Mutagenetix > Incidental Mutation

Incidental Mutation 'B5639:Zfhx4'

552

Institutional Source

Beutler Lab

Gene Symbol

Zfhx4

Ensembl Gene

ENSMUSG00000025255

Gene Name

zinc finger homeodomain 4

Synonyms

Zfh-4, Zfh4, C130041O22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

B5639 of strain 3d

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5283586-5480917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5468235 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Glycine to Tryptophan at position 2798 (G2798W)

Ref Sequence

ENSEMBL: ENSMUSP00000135289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026284] [ENSMUST00000175866] [ENSMUST00000176383]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026284
AA Change: G2798W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026284
Gene: ENSMUSG00000025255
AA Change: G2798W

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	99	1.78e2	SMART
low complexity region	110	122	N/A	INTRINSIC
ZnF_C2H2	277	300	1.55e1	SMART
low complexity region	421	438	N/A	INTRINSIC
low complexity region	470	475	N/A	INTRINSIC
low complexity region	590	610	N/A	INTRINSIC
ZnF_C2H2	611	634	2.45e0	SMART
ZnF_C2H2	642	665	6.78e-3	SMART
ZnF_U1	694	728	1.8e-1	SMART
ZnF_C2H2	697	721	4.87e-4	SMART
low complexity region	754	763	N/A	INTRINSIC
ZnF_C2H2	765	789	6.67e-2	SMART
ZnF_C2H2	876	897	2.44e2	SMART
ZnF_U1	912	946	2.88e0	SMART
ZnF_C2H2	915	939	1.23e0	SMART
ZnF_C2H2	971	993	7.05e-1	SMART
ZnF_U1	1016	1050	3.73e0	SMART
ZnF_C2H2	1019	1043	4.98e-1	SMART
ZnF_C2H2	1188	1211	1.1e-2	SMART
ZnF_C2H2	1217	1240	4.94e0	SMART
ZnF_C2H2	1368	1390	7.67e-2	SMART
ZnF_C2H2	1396	1419	1.33e-1	SMART
ZnF_U1	1509	1543	7.4e-1	SMART
ZnF_C2H2	1512	1536	8.22e-2	SMART
ZnF_U1	1561	1595	3.73e0	SMART
ZnF_C2H2	1564	1588	1.16e-1	SMART
low complexity region	1664	1692	N/A	INTRINSIC
low complexity region	1701	1713	N/A	INTRINSIC
low complexity region	1762	1808	N/A	INTRINSIC
ZnF_C2H2	1916	1939	3.07e-1	SMART
low complexity region	1964	1990	N/A	INTRINSIC
low complexity region	2008	2032	N/A	INTRINSIC
low complexity region	2055	2072	N/A	INTRINSIC
HOX	2100	2162	4.23e-16	SMART
HOX	2197	2259	5.62e-21	SMART
ZnF_C2H2	2283	2303	1.13e1	SMART
low complexity region	2364	2376	N/A	INTRINSIC
low complexity region	2408	2425	N/A	INTRINSIC
low complexity region	2449	2460	N/A	INTRINSIC
ZnF_C2H2	2461	2483	2.17e-1	SMART
HOX	2573	2635	3.18e-20	SMART
ZnF_C2H2	2643	2666	6.67e-2	SMART
low complexity region	2874	2886	N/A	INTRINSIC
HOX	2896	2958	4.54e-16	SMART
ZnF_U1	2971	3005	6.59e-1	SMART
ZnF_C2H2	2974	2998	1.36e1	SMART
low complexity region	3066	3078	N/A	INTRINSIC
low complexity region	3106	3119	N/A	INTRINSIC
low complexity region	3163	3186	N/A	INTRINSIC
coiled coil region	3279	3308	N/A	INTRINSIC
ZnF_C2H2	3368	3388	1.12e2	SMART
ZnF_U1	3409	3443	6.16e-2	SMART
ZnF_C2H2	3412	3436	6.57e0	SMART
low complexity region	3461	3479	N/A	INTRINSIC
low complexity region	3505	3527	N/A	INTRINSIC
low complexity region	3536	3547	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175866
AA Change: G2823W

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135827
Gene: ENSMUSG00000025255
AA Change: G2823W

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	99	1.78e2	SMART
low complexity region	110	122	N/A	INTRINSIC
ZnF_C2H2	277	300	1.55e1	SMART
low complexity region	421	438	N/A	INTRINSIC
low complexity region	470	475	N/A	INTRINSIC
low complexity region	590	610	N/A	INTRINSIC
ZnF_C2H2	611	634	2.45e0	SMART
ZnF_C2H2	642	665	6.78e-3	SMART
ZnF_U1	694	728	1.8e-1	SMART
ZnF_C2H2	697	721	4.87e-4	SMART
low complexity region	754	763	N/A	INTRINSIC
ZnF_C2H2	765	789	6.67e-2	SMART
ZnF_C2H2	902	923	2.44e2	SMART
ZnF_U1	938	972	2.88e0	SMART
ZnF_C2H2	941	965	1.23e0	SMART
ZnF_C2H2	997	1019	7.05e-1	SMART
ZnF_U1	1042	1076	3.73e0	SMART
ZnF_C2H2	1045	1069	4.98e-1	SMART
ZnF_C2H2	1213	1236	1.1e-2	SMART
ZnF_C2H2	1242	1265	4.94e0	SMART
ZnF_C2H2	1393	1415	7.67e-2	SMART
ZnF_C2H2	1421	1444	1.33e-1	SMART
ZnF_U1	1534	1568	7.4e-1	SMART
ZnF_C2H2	1537	1561	8.22e-2	SMART
ZnF_U1	1586	1620	3.73e0	SMART
ZnF_C2H2	1589	1613	1.16e-1	SMART
low complexity region	1689	1717	N/A	INTRINSIC
low complexity region	1726	1738	N/A	INTRINSIC
low complexity region	1787	1833	N/A	INTRINSIC
ZnF_C2H2	1941	1964	3.07e-1	SMART
low complexity region	1989	2015	N/A	INTRINSIC
low complexity region	2033	2057	N/A	INTRINSIC
low complexity region	2080	2097	N/A	INTRINSIC
HOX	2125	2187	4.23e-16	SMART
HOX	2222	2284	5.62e-21	SMART
ZnF_C2H2	2308	2328	1.13e1	SMART
low complexity region	2389	2401	N/A	INTRINSIC
low complexity region	2433	2450	N/A	INTRINSIC
low complexity region	2474	2485	N/A	INTRINSIC
ZnF_C2H2	2486	2508	2.17e-1	SMART
HOX	2598	2660	3.18e-20	SMART
ZnF_C2H2	2668	2691	6.67e-2	SMART
low complexity region	2899	2911	N/A	INTRINSIC
HOX	2921	2983	4.54e-16	SMART
ZnF_U1	2996	3030	6.59e-1	SMART
ZnF_C2H2	2999	3023	1.36e1	SMART
low complexity region	3091	3103	N/A	INTRINSIC
low complexity region	3131	3144	N/A	INTRINSIC
low complexity region	3188	3211	N/A	INTRINSIC
coiled coil region	3304	3333	N/A	INTRINSIC
ZnF_C2H2	3393	3413	1.12e2	SMART
ZnF_U1	3434	3468	6.16e-2	SMART
ZnF_C2H2	3437	3461	6.57e0	SMART
low complexity region	3486	3504	N/A	INTRINSIC
low complexity region	3530	3552	N/A	INTRINSIC
low complexity region	3561	3572	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176383
AA Change: G2798W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135289
Gene: ENSMUSG00000025255
AA Change: G2798W

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	99	1.78e2	SMART
low complexity region	110	122	N/A	INTRINSIC
ZnF_C2H2	277	300	1.55e1	SMART
low complexity region	421	438	N/A	INTRINSIC
low complexity region	470	475	N/A	INTRINSIC
low complexity region	590	610	N/A	INTRINSIC
ZnF_C2H2	611	634	2.45e0	SMART
ZnF_C2H2	642	665	6.78e-3	SMART
ZnF_U1	694	728	1.8e-1	SMART
ZnF_C2H2	697	721	4.87e-4	SMART
low complexity region	754	763	N/A	INTRINSIC
ZnF_C2H2	765	789	6.67e-2	SMART
ZnF_C2H2	876	897	2.44e2	SMART
ZnF_U1	912	946	2.88e0	SMART
ZnF_C2H2	915	939	1.23e0	SMART
ZnF_C2H2	971	993	7.05e-1	SMART
ZnF_U1	1016	1050	3.73e0	SMART
ZnF_C2H2	1019	1043	4.98e-1	SMART
ZnF_C2H2	1188	1211	1.1e-2	SMART
ZnF_C2H2	1217	1240	4.94e0	SMART
ZnF_C2H2	1368	1390	7.67e-2	SMART
ZnF_C2H2	1396	1419	1.33e-1	SMART
ZnF_U1	1509	1543	7.4e-1	SMART
ZnF_C2H2	1512	1536	8.22e-2	SMART
ZnF_U1	1561	1595	3.73e0	SMART
ZnF_C2H2	1564	1588	1.16e-1	SMART
low complexity region	1664	1692	N/A	INTRINSIC
low complexity region	1701	1713	N/A	INTRINSIC
low complexity region	1762	1808	N/A	INTRINSIC
ZnF_C2H2	1916	1939	3.07e-1	SMART
low complexity region	1964	1990	N/A	INTRINSIC
low complexity region	2008	2032	N/A	INTRINSIC
low complexity region	2055	2072	N/A	INTRINSIC
HOX	2100	2162	4.23e-16	SMART
HOX	2197	2259	5.62e-21	SMART
ZnF_C2H2	2283	2303	1.13e1	SMART
low complexity region	2364	2376	N/A	INTRINSIC
low complexity region	2408	2425	N/A	INTRINSIC
low complexity region	2449	2460	N/A	INTRINSIC
ZnF_C2H2	2461	2483	2.17e-1	SMART
HOX	2573	2635	3.18e-20	SMART
ZnF_C2H2	2643	2666	6.67e-2	SMART
low complexity region	2874	2886	N/A	INTRINSIC
HOX	2896	2958	4.54e-16	SMART
ZnF_U1	2971	3005	6.59e-1	SMART
ZnF_C2H2	2974	2998	1.36e1	SMART
low complexity region	3066	3078	N/A	INTRINSIC
low complexity region	3106	3119	N/A	INTRINSIC
low complexity region	3163	3186	N/A	INTRINSIC
coiled coil region	3279	3308	N/A	INTRINSIC
ZnF_C2H2	3368	3388	1.12e2	SMART
ZnF_U1	3409	3443	6.16e-2	SMART
ZnF_C2H2	3412	3436	6.57e0	SMART
low complexity region	3461	3479	N/A	INTRINSIC
low complexity region	3505	3527	N/A	INTRINSIC
low complexity region	3536	3547	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 89.7%
3x: 78.3%

Het Detection Efficiency

55.9%

Validation Efficiency

83% (206/248)

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnmt1	G	A	9: 20,819,264 (GRCm39)		probably benign	Het
Eno1	A	G	4: 150,329,569 (GRCm39)		probably benign	Het
Ercc8	G	A	13: 108,297,257 (GRCm39)	G56R	probably damaging	Homo
Fam237b	C	T	5: 5,624,060 (GRCm39)		probably benign	Homo
Idh1	A	G	1: 65,204,257 (GRCm39)		probably null	Homo
Incenp	G	A	19: 9,871,182 (GRCm39)	T149I	unknown	Het
Or5d16	G	A	2: 87,773,942 (GRCm39)	S10F	probably benign	Het
Or5k17	A	T	16: 58,746,889 (GRCm39)	I15K	probably benign	Homo
Pdk2	T	C	11: 94,923,324 (GRCm39)	D100G	possibly damaging	Homo
Prss56	T	C	1: 87,114,892 (GRCm39)	L465P	probably benign	Homo
Slc10a3	G	A	X: 73,413,145 (GRCm39)	P416L	probably damaging	Homo
Syne2	C	A	12: 75,976,564 (GRCm39)	T1243K	probably benign	Het
Vwf	T	C	6: 125,619,947 (GRCm39)	Y1542H	probably damaging	Homo
Zc3h13	G	A	14: 75,553,479 (GRCm39)	R302Q	probably damaging	Het
Zfp667	A	G	7: 6,293,544 (GRCm39)	T15A	probably damaging	Het

Other mutations in Zfhx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Zfhx4	APN	3	5,307,401 (GRCm39)	missense	probably damaging	1.00
IGL00915:Zfhx4	APN	3	5,310,583 (GRCm39)	missense	probably damaging	0.99
IGL01145:Zfhx4	APN	3	5,310,407 (GRCm39)	missense	probably damaging	1.00
IGL01302:Zfhx4	APN	3	5,308,628 (GRCm39)	missense	probably damaging	1.00
IGL01314:Zfhx4	APN	3	5,478,154 (GRCm39)	missense	probably damaging	0.98
IGL01321:Zfhx4	APN	3	5,307,388 (GRCm39)	missense	probably benign	0.01
IGL01328:Zfhx4	APN	3	5,309,344 (GRCm39)	missense	probably damaging	1.00
IGL01333:Zfhx4	APN	3	5,464,387 (GRCm39)	missense	probably damaging	1.00
IGL01351:Zfhx4	APN	3	5,466,196 (GRCm39)	missense	probably damaging	1.00
IGL01524:Zfhx4	APN	3	5,309,036 (GRCm39)	missense	probably damaging	1.00
IGL01549:Zfhx4	APN	3	5,464,522 (GRCm39)	missense	probably damaging	1.00
IGL01715:Zfhx4	APN	3	5,307,105 (GRCm39)	missense	probably benign	0.00
IGL01736:Zfhx4	APN	3	5,309,152 (GRCm39)	missense	possibly damaging	0.85
IGL01904:Zfhx4	APN	3	5,477,769 (GRCm39)	missense	probably damaging	1.00
IGL02298:Zfhx4	APN	3	5,309,364 (GRCm39)	splice site	probably null
IGL02342:Zfhx4	APN	3	5,467,434 (GRCm39)	missense	probably benign	0.14
IGL02465:Zfhx4	APN	3	5,464,663 (GRCm39)	missense	possibly damaging	0.48
IGL02481:Zfhx4	APN	3	5,476,903 (GRCm39)	missense	probably damaging	0.99
IGL02511:Zfhx4	APN	3	5,464,243 (GRCm39)	missense	probably damaging	1.00
IGL02571:Zfhx4	APN	3	5,394,583 (GRCm39)	missense	probably damaging	1.00
IGL02685:Zfhx4	APN	3	5,477,213 (GRCm39)	missense	probably damaging	1.00
IGL02721:Zfhx4	APN	3	5,308,367 (GRCm39)	missense	possibly damaging	0.76
IGL02806:Zfhx4	APN	3	5,455,468 (GRCm39)	missense	probably benign	0.00
IGL03140:Zfhx4	APN	3	5,307,585 (GRCm39)	missense	probably damaging	1.00
IGL03185:Zfhx4	APN	3	5,468,974 (GRCm39)	missense	probably benign	0.05
IGL03209:Zfhx4	APN	3	5,466,231 (GRCm39)	missense	probably damaging	1.00
IGL03292:Zfhx4	APN	3	5,476,840 (GRCm39)	nonsense	probably null
IGL03302:Zfhx4	APN	3	5,468,773 (GRCm39)	missense	possibly damaging	0.88
IGL03303:Zfhx4	APN	3	5,468,410 (GRCm39)	missense	probably damaging	1.00
IGL03341:Zfhx4	APN	3	5,476,910 (GRCm39)	missense	probably damaging	0.98
3-1:Zfhx4	UTSW	3	5,468,445 (GRCm39)	missense	probably benign	0.14
IGL02796:Zfhx4	UTSW	3	5,464,599 (GRCm39)	missense	probably damaging	1.00
IGL03047:Zfhx4	UTSW	3	5,308,793 (GRCm39)	missense	probably damaging	0.99
P0025:Zfhx4	UTSW	3	5,464,648 (GRCm39)	missense	probably benign	0.04
PIT4377001:Zfhx4	UTSW	3	5,307,802 (GRCm39)	missense	probably damaging	0.98
R0090:Zfhx4	UTSW	3	5,308,685 (GRCm39)	missense	probably damaging	1.00
R0107:Zfhx4	UTSW	3	5,464,042 (GRCm39)	missense	probably damaging	1.00
R0401:Zfhx4	UTSW	3	5,466,221 (GRCm39)	missense	possibly damaging	0.87
R0465:Zfhx4	UTSW	3	5,310,716 (GRCm39)	splice site	probably benign
R0506:Zfhx4	UTSW	3	5,467,795 (GRCm39)	missense	probably damaging	1.00
R0507:Zfhx4	UTSW	3	5,466,048 (GRCm39)	nonsense	probably null
R0550:Zfhx4	UTSW	3	5,465,554 (GRCm39)	missense	probably damaging	0.99
R0576:Zfhx4	UTSW	3	5,467,161 (GRCm39)	missense	probably damaging	1.00
R0590:Zfhx4	UTSW	3	5,467,693 (GRCm39)	missense	probably damaging	1.00
R0697:Zfhx4	UTSW	3	5,466,793 (GRCm39)	missense	probably damaging	0.99
R0727:Zfhx4	UTSW	3	5,466,133 (GRCm39)	missense	probably damaging	0.98
R0762:Zfhx4	UTSW	3	5,468,880 (GRCm39)	missense	probably damaging	1.00
R0815:Zfhx4	UTSW	3	5,310,375 (GRCm39)	missense	possibly damaging	0.87
R0863:Zfhx4	UTSW	3	5,310,375 (GRCm39)	missense	possibly damaging	0.87
R0866:Zfhx4	UTSW	3	5,477,272 (GRCm39)	missense	possibly damaging	0.58
R1109:Zfhx4	UTSW	3	5,464,930 (GRCm39)	missense	possibly damaging	0.59
R1177:Zfhx4	UTSW	3	5,465,891 (GRCm39)	small deletion	probably benign
R1338:Zfhx4	UTSW	3	5,462,021 (GRCm39)	missense	possibly damaging	0.86
R1388:Zfhx4	UTSW	3	5,466,447 (GRCm39)	missense	probably damaging	1.00
R1434:Zfhx4	UTSW	3	5,306,919 (GRCm39)	missense	probably benign	0.00
R1470:Zfhx4	UTSW	3	5,478,206 (GRCm39)	makesense	probably null
R1470:Zfhx4	UTSW	3	5,478,206 (GRCm39)	makesense	probably null
R1552:Zfhx4	UTSW	3	5,468,170 (GRCm39)	missense	probably damaging	1.00
R1589:Zfhx4	UTSW	3	5,306,789 (GRCm39)	missense	probably damaging	1.00
R1633:Zfhx4	UTSW	3	5,465,473 (GRCm39)	missense	probably damaging	1.00
R1656:Zfhx4	UTSW	3	5,478,076 (GRCm39)	missense	probably damaging	1.00
R1717:Zfhx4	UTSW	3	5,468,164 (GRCm39)	missense	probably benign	0.20
R1739:Zfhx4	UTSW	3	5,466,790 (GRCm39)	missense	probably damaging	1.00
R1760:Zfhx4	UTSW	3	5,447,676 (GRCm39)	missense	probably benign
R1842:Zfhx4	UTSW	3	5,466,558 (GRCm39)	missense	probably damaging	1.00
R1867:Zfhx4	UTSW	3	5,477,774 (GRCm39)	missense	probably damaging	1.00
R1868:Zfhx4	UTSW	3	5,477,774 (GRCm39)	missense	probably damaging	1.00
R2064:Zfhx4	UTSW	3	5,463,987 (GRCm39)	missense	probably damaging	1.00
R2083:Zfhx4	UTSW	3	5,468,223 (GRCm39)	missense	possibly damaging	0.58
R2154:Zfhx4	UTSW	3	5,466,801 (GRCm39)	missense	possibly damaging	0.86
R2165:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R2181:Zfhx4	UTSW	3	5,468,392 (GRCm39)	missense	probably damaging	1.00
R2201:Zfhx4	UTSW	3	5,307,349 (GRCm39)	missense	probably damaging	1.00
R2209:Zfhx4	UTSW	3	5,461,978 (GRCm39)	missense	probably damaging	1.00
R2303:Zfhx4	UTSW	3	5,462,120 (GRCm39)	missense	probably damaging	0.99
R2327:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R2420:Zfhx4	UTSW	3	5,455,465 (GRCm39)	missense	probably benign	0.00
R2422:Zfhx4	UTSW	3	5,455,465 (GRCm39)	missense	probably benign	0.00
R2516:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R2518:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R2519:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R2520:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R2566:Zfhx4	UTSW	3	5,310,203 (GRCm39)	missense	probably damaging	0.98
R2922:Zfhx4	UTSW	3	5,468,724 (GRCm39)	missense	probably damaging	1.00
R3000:Zfhx4	UTSW	3	5,468,714 (GRCm39)	missense	probably damaging	1.00
R3103:Zfhx4	UTSW	3	5,464,386 (GRCm39)	missense	probably damaging	1.00
R3409:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R3414:Zfhx4	UTSW	3	5,468,883 (GRCm39)	missense	probably damaging	1.00
R3746:Zfhx4	UTSW	3	5,308,225 (GRCm39)	missense	possibly damaging	0.82
R3747:Zfhx4	UTSW	3	5,308,225 (GRCm39)	missense	possibly damaging	0.82
R3748:Zfhx4	UTSW	3	5,308,225 (GRCm39)	missense	possibly damaging	0.82
R3749:Zfhx4	UTSW	3	5,308,225 (GRCm39)	missense	possibly damaging	0.82
R3750:Zfhx4	UTSW	3	5,308,225 (GRCm39)	missense	possibly damaging	0.82
R3763:Zfhx4	UTSW	3	5,468,404 (GRCm39)	missense	probably damaging	1.00
R3826:Zfhx4	UTSW	3	5,466,269 (GRCm39)	missense	probably damaging	1.00
R3827:Zfhx4	UTSW	3	5,466,269 (GRCm39)	missense	probably damaging	1.00
R3830:Zfhx4	UTSW	3	5,466,269 (GRCm39)	missense	probably damaging	1.00
R3877:Zfhx4	UTSW	3	5,465,845 (GRCm39)	missense	probably benign
R3919:Zfhx4	UTSW	3	5,464,175 (GRCm39)	missense	possibly damaging	0.48
R3922:Zfhx4	UTSW	3	5,465,707 (GRCm39)	missense	probably damaging	1.00
R3927:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R3965:Zfhx4	UTSW	3	5,468,907 (GRCm39)	missense	probably damaging	1.00
R4004:Zfhx4	UTSW	3	5,468,418 (GRCm39)	missense	probably benign	0.32
R4049:Zfhx4	UTSW	3	5,463,919 (GRCm39)	missense	probably damaging	1.00
R4073:Zfhx4	UTSW	3	5,464,384 (GRCm39)	missense	probably damaging	1.00
R4134:Zfhx4	UTSW	3	5,308,687 (GRCm39)	missense	probably damaging	1.00
R4401:Zfhx4	UTSW	3	5,468,405 (GRCm39)	nonsense	probably null
R4439:Zfhx4	UTSW	3	5,279,875 (GRCm39)	unclassified	probably benign
R4497:Zfhx4	UTSW	3	5,464,680 (GRCm39)	missense	possibly damaging	0.88
R4518:Zfhx4	UTSW	3	5,477,578 (GRCm39)	missense	probably damaging	1.00
R4569:Zfhx4	UTSW	3	5,466,894 (GRCm39)	missense	probably benign	0.00
R4612:Zfhx4	UTSW	3	5,462,123 (GRCm39)	missense	probably damaging	1.00
R4616:Zfhx4	UTSW	3	5,478,127 (GRCm39)	missense	possibly damaging	0.66
R4626:Zfhx4	UTSW	3	5,467,699 (GRCm39)	missense	probably damaging	1.00
R4628:Zfhx4	UTSW	3	5,468,536 (GRCm39)	missense	probably damaging	1.00
R4637:Zfhx4	UTSW	3	5,468,464 (GRCm39)	missense	probably damaging	1.00
R4647:Zfhx4	UTSW	3	5,464,341 (GRCm39)	missense	probably damaging	0.99
R4708:Zfhx4	UTSW	3	5,310,563 (GRCm39)	splice site	probably null
R4729:Zfhx4	UTSW	3	5,464,557 (GRCm39)	missense	probably damaging	1.00
R4732:Zfhx4	UTSW	3	5,279,867 (GRCm39)	unclassified	probably benign
R4757:Zfhx4	UTSW	3	5,465,122 (GRCm39)	missense	possibly damaging	0.85
R4765:Zfhx4	UTSW	3	5,465,212 (GRCm39)	missense	probably benign
R4819:Zfhx4	UTSW	3	5,468,974 (GRCm39)	missense	probably benign	0.05
R4937:Zfhx4	UTSW	3	5,307,071 (GRCm39)	missense	probably damaging	1.00
R4980:Zfhx4	UTSW	3	5,464,039 (GRCm39)	missense	possibly damaging	0.47
R5124:Zfhx4	UTSW	3	5,307,107 (GRCm39)	missense	probably damaging	1.00
R5214:Zfhx4	UTSW	3	5,468,701 (GRCm39)	missense	probably damaging	1.00
R5361:Zfhx4	UTSW	3	5,464,267 (GRCm39)	missense	probably damaging	0.99
R5375:Zfhx4	UTSW	3	5,477,485 (GRCm39)	missense	probably damaging	0.99
R5485:Zfhx4	UTSW	3	5,308,067 (GRCm39)	missense	probably damaging	1.00
R5588:Zfhx4	UTSW	3	5,468,198 (GRCm39)	missense	probably damaging	1.00
R5609:Zfhx4	UTSW	3	5,468,679 (GRCm39)	missense	probably damaging	1.00
R5726:Zfhx4	UTSW	3	5,468,381 (GRCm39)	missense	probably benign	0.02
R5758:Zfhx4	UTSW	3	5,467,680 (GRCm39)	missense	probably damaging	1.00
R5865:Zfhx4	UTSW	3	5,467,719 (GRCm39)	missense	probably damaging	1.00
R5938:Zfhx4	UTSW	3	5,467,198 (GRCm39)	missense	probably damaging	0.99
R5952:Zfhx4	UTSW	3	5,462,030 (GRCm39)	missense	probably damaging	0.99
R6043:Zfhx4	UTSW	3	5,468,487 (GRCm39)	missense	probably benign	0.00
R6045:Zfhx4	UTSW	3	5,462,019 (GRCm39)	missense	probably damaging	1.00
R6125:Zfhx4	UTSW	3	5,463,871 (GRCm39)	missense	possibly damaging	0.68
R6354:Zfhx4	UTSW	3	5,467,011 (GRCm39)	missense	probably benign
R6374:Zfhx4	UTSW	3	5,309,095 (GRCm39)	missense	probably damaging	1.00
R6378:Zfhx4	UTSW	3	5,308,410 (GRCm39)	missense	probably benign	0.07
R6380:Zfhx4	UTSW	3	5,478,170 (GRCm39)	missense	probably damaging	0.99
R6413:Zfhx4	UTSW	3	5,308,205 (GRCm39)	missense	probably damaging	1.00
R6449:Zfhx4	UTSW	3	5,307,488 (GRCm39)	missense	probably damaging	1.00
R6539:Zfhx4	UTSW	3	5,309,168 (GRCm39)	missense	probably damaging	0.99
R6714:Zfhx4	UTSW	3	5,306,897 (GRCm39)	missense	probably damaging	1.00
R6933:Zfhx4	UTSW	3	5,478,047 (GRCm39)	missense	probably damaging	0.99
R6982:Zfhx4	UTSW	3	5,468,890 (GRCm39)	missense	probably damaging	1.00
R7104:Zfhx4	UTSW	3	5,467,549 (GRCm39)	missense	probably damaging	0.97
R7127:Zfhx4	UTSW	3	5,478,104 (GRCm39)	missense	probably damaging	0.99
R7138:Zfhx4	UTSW	3	5,477,107 (GRCm39)	missense	possibly damaging	0.69
R7161:Zfhx4	UTSW	3	5,309,143 (GRCm39)	missense	possibly damaging	0.65
R7213:Zfhx4	UTSW	3	5,461,704 (GRCm39)	missense	probably benign
R7483:Zfhx4	UTSW	3	5,477,237 (GRCm39)	missense	probably damaging	0.98
R7514:Zfhx4	UTSW	3	5,307,267 (GRCm39)	missense	possibly damaging	0.91
R7544:Zfhx4	UTSW	3	5,477,875 (GRCm39)	missense	probably damaging	0.98
R7565:Zfhx4	UTSW	3	5,455,426 (GRCm39)	missense	probably benign	0.04
R7611:Zfhx4	UTSW	3	5,468,831 (GRCm39)	missense	probably damaging	1.00
R7640:Zfhx4	UTSW	3	5,477,540 (GRCm39)	missense	probably benign	0.19
R7649:Zfhx4	UTSW	3	5,307,170 (GRCm39)	missense	probably damaging	1.00
R7689:Zfhx4	UTSW	3	5,476,946 (GRCm39)	missense	probably benign	0.05
R7711:Zfhx4	UTSW	3	5,462,016 (GRCm39)	missense	probably damaging	0.98
R7895:Zfhx4	UTSW	3	5,307,259 (GRCm39)	missense	probably benign	0.00
R7920:Zfhx4	UTSW	3	5,465,515 (GRCm39)	missense	possibly damaging	0.62
R7972:Zfhx4	UTSW	3	5,477,533 (GRCm39)	missense	probably benign	0.02
R7993:Zfhx4	UTSW	3	5,478,047 (GRCm39)	missense	probably damaging	1.00
R8133:Zfhx4	UTSW	3	5,465,554 (GRCm39)	missense	probably damaging	0.99
R8158:Zfhx4	UTSW	3	5,464,010 (GRCm39)	nonsense	probably null
R8272:Zfhx4	UTSW	3	5,308,927 (GRCm39)	missense	probably damaging	0.99
R8285:Zfhx4	UTSW	3	5,466,916 (GRCm39)	missense	probably benign	0.17
R8321:Zfhx4	UTSW	3	5,466,187 (GRCm39)	missense	probably damaging	1.00
R8381:Zfhx4	UTSW	3	5,447,676 (GRCm39)	missense	probably benign	0.00
R8434:Zfhx4	UTSW	3	5,463,918 (GRCm39)	missense	probably damaging	0.99
R8466:Zfhx4	UTSW	3	5,307,762 (GRCm39)	missense	probably damaging	1.00
R8515:Zfhx4	UTSW	3	5,464,534 (GRCm39)	missense	probably benign	0.00
R8525:Zfhx4	UTSW	3	5,464,603 (GRCm39)	missense	probably damaging	1.00
R8743:Zfhx4	UTSW	3	5,309,084 (GRCm39)	missense	probably damaging	1.00
R8830:Zfhx4	UTSW	3	5,463,949 (GRCm39)	missense	probably damaging	1.00
R8839:Zfhx4	UTSW	3	5,466,915 (GRCm39)	missense	probably benign
R8856:Zfhx4	UTSW	3	5,455,484 (GRCm39)	missense	probably benign	0.45
R8900:Zfhx4	UTSW	3	5,463,924 (GRCm39)	missense	probably damaging	1.00
R8917:Zfhx4	UTSW	3	5,464,159 (GRCm39)	missense	probably damaging	1.00
R9101:Zfhx4	UTSW	3	5,477,198 (GRCm39)	missense	probably benign	0.10
R9126:Zfhx4	UTSW	3	5,394,589 (GRCm39)	missense	probably damaging	0.99
R9159:Zfhx4	UTSW	3	5,466,217 (GRCm39)	missense	probably damaging	1.00
R9159:Zfhx4	UTSW	3	5,464,312 (GRCm39)	missense	probably damaging	0.98
R9241:Zfhx4	UTSW	3	5,308,697 (GRCm39)	missense	probably damaging	1.00
R9295:Zfhx4	UTSW	3	5,394,525 (GRCm39)	missense	probably benign
R9376:Zfhx4	UTSW	3	5,465,395 (GRCm39)	missense	probably benign	0.04
R9376:Zfhx4	UTSW	3	5,306,833 (GRCm39)	missense	probably damaging	1.00
R9550:Zfhx4	UTSW	3	5,464,572 (GRCm39)	missense	probably damaging	1.00
R9680:Zfhx4	UTSW	3	5,465,656 (GRCm39)	missense	probably damaging	1.00
R9782:Zfhx4	UTSW	3	5,466,514 (GRCm39)	missense	probably benign	0.38
R9787:Zfhx4	UTSW	3	5,455,506 (GRCm39)	missense	possibly damaging	0.94
R9790:Zfhx4	UTSW	3	5,464,922 (GRCm39)	missense	probably damaging	1.00
R9791:Zfhx4	UTSW	3	5,464,922 (GRCm39)	missense	probably damaging	1.00
RF019:Zfhx4	UTSW	3	5,468,327 (GRCm39)	missense	probably benign	0.08
X0025:Zfhx4	UTSW	3	5,476,896 (GRCm39)	missense	probably damaging	0.99
X0026:Zfhx4	UTSW	3	5,477,398 (GRCm39)	missense	probably benign	0.00
X0028:Zfhx4	UTSW	3	5,468,327 (GRCm39)	missense	probably damaging	1.00
X0028:Zfhx4	UTSW	3	5,467,474 (GRCm39)	missense	probably benign	0.13
X0054:Zfhx4	UTSW	3	5,464,770 (GRCm39)	nonsense	probably null
Z1177:Zfhx4	UTSW	3	5,307,506 (GRCm39)	missense	probably damaging	1.00
Z1187:Zfhx4	UTSW	3	5,308,067 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to T transversion at position 8812 of the Zfhx4 transcript in exon 10 of 11 total exons. Two transcripts of the Zfhx4 gene are displayed on Ensembl. The mutated nucleotide causes a glycine to tryptophan substitution at amino acid 2798 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

The Zfhx4 gene encodes the 3581 amino acid zinc finger homeobox protein 4 (ZFH-4). The protein is a transcription factor that may play a role in neural and muscle differentiation. ZFH-4 belongs to the Krueppel C2H2-type zinc finger protein family and contains 20 C2H2-type zinc fingers and four homeobox DNA-binding domains (Uniprot Q9JJN2).

The G2798W change is located between the 17^th C2H2-type zinc finger domain and the 4^th homeobox domain, and is predicted to be probably damaging by the PolyPhen program.

Posted On

2010-11-19