Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Zfp7'

175001

Institutional Source

Beutler Lab

Gene Symbol

Zfp7

Ensembl Gene

ENSMUSG00000033669

Gene Name

zinc finger protein 7

Synonyms

Zfp86-rs1, Zfp-7, Zfp65, Krox-2, KRAB20, Zfp80, mszf73-2, KRAB7

MMRRC Submission

039662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76763459-76776595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76765374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 22 (D22E)

Ref Sequence

ENSEMBL: ENSMUSP00000155815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023179] [ENSMUST00000229831] [ENSMUST00000229990] [ENSMUST00000230106] [ENSMUST00000230214]

AlphaFold

Q3TFZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023179
AA Change: D22E

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023179
Gene: ENSMUSG00000033669
AA Change: D22E

Domain	Start	End	E-Value	Type
KRAB	4	65	3.07e-33	SMART
ZnF_C2H2	192	214	6.88e-4	SMART
ZnF_C2H2	220	242	4.24e-4	SMART
ZnF_C2H2	248	270	2.09e-3	SMART
ZnF_C2H2	276	298	1.45e-2	SMART
ZnF_C2H2	304	326	1.13e-4	SMART
ZnF_C2H2	332	354	9.08e-4	SMART
ZnF_C2H2	360	383	2.24e-3	SMART
ZnF_C2H2	412	434	9.08e-4	SMART
ZnF_C2H2	440	462	1.67e-2	SMART
ZnF_C2H2	468	490	3.44e-4	SMART
ZnF_C2H2	496	518	8.47e-4	SMART
ZnF_C2H2	524	546	4.54e-4	SMART
ZnF_C2H2	552	574	7.9e-4	SMART
ZnF_C2H2	580	602	1.72e-4	SMART
ZnF_C2H2	633	655	1.98e-4	SMART
ZnF_C2H2	661	683	4.79e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229782

Predicted Effect

probably damaging
Transcript: ENSMUST00000229831
AA Change: D22E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229990
AA Change: D22E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230106
AA Change: D22E

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000230214
AA Change: D22E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230954

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het

Other mutations in Zfp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Zfp7	APN	15	76,775,101 (GRCm39)	intron	probably benign
IGL01509:Zfp7	APN	15	76,765,333 (GRCm39)	missense	probably damaging	1.00
IGL01694:Zfp7	APN	15	76,774,995 (GRCm39)	nonsense	probably null
IGL01731:Zfp7	APN	15	76,772,505 (GRCm39)	nonsense	probably null
IGL02025:Zfp7	APN	15	76,772,464 (GRCm39)	missense	probably damaging	1.00
R0841:Zfp7	UTSW	15	76,775,704 (GRCm39)	missense	probably damaging	1.00
R1345:Zfp7	UTSW	15	76,774,908 (GRCm39)	missense	probably damaging	1.00
R1872:Zfp7	UTSW	15	76,775,977 (GRCm39)	missense	probably benign	0.00
R2330:Zfp7	UTSW	15	76,775,509 (GRCm39)	missense	probably damaging	1.00
R4170:Zfp7	UTSW	15	76,775,818 (GRCm39)	missense	probably benign	0.00
R4795:Zfp7	UTSW	15	76,775,546 (GRCm39)	nonsense	probably null
R4796:Zfp7	UTSW	15	76,775,546 (GRCm39)	nonsense	probably null
R5038:Zfp7	UTSW	15	76,776,010 (GRCm39)	missense	probably benign	0.01
R5277:Zfp7	UTSW	15	76,765,403 (GRCm39)	missense	probably damaging	1.00
R5285:Zfp7	UTSW	15	76,775,422 (GRCm39)	missense	probably damaging	1.00
R5287:Zfp7	UTSW	15	76,775,422 (GRCm39)	missense	probably damaging	1.00
R5445:Zfp7	UTSW	15	76,775,054 (GRCm39)	nonsense	probably null
R5655:Zfp7	UTSW	15	76,775,629 (GRCm39)	missense	probably damaging	1.00
R6320:Zfp7	UTSW	15	76,774,810 (GRCm39)	missense	possibly damaging	0.79
R7063:Zfp7	UTSW	15	76,775,919 (GRCm39)	missense	possibly damaging	0.82
R8110:Zfp7	UTSW	15	76,775,131 (GRCm39)	missense	possibly damaging	0.94
R9058:Zfp7	UTSW	15	76,764,981 (GRCm39)	start codon destroyed	probably null	0.77
R9205:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9206:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9352:Zfp7	UTSW	15	76,775,674 (GRCm39)	missense	probably damaging	1.00
R9364:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9368:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9369:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9372:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9373:Zfp7	UTSW	15	76,774,800 (GRCm39)	intron	probably benign
R9373:Zfp7	UTSW	15	76,774,798 (GRCm39)	intron	probably benign
R9513:Zfp7	UTSW	15	76,775,484 (GRCm39)	missense	probably damaging	1.00
R9515:Zfp7	UTSW	15	76,775,484 (GRCm39)	missense	probably damaging	1.00
R9516:Zfp7	UTSW	15	76,775,484 (GRCm39)	missense	probably damaging	1.00
R9623:Zfp7	UTSW	15	76,774,531 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GAATAAATGTCCGCCCAGACCAGAG -3'
(R):5'- AGCCTGGCAAACTCAGATTCAAGG -3'

Sequencing Primer
(F):5'- CCAGACCAGAGTTTAGCTGTG -3'
(R):5'- CAGTTAGCACCAcacacacac -3'

Posted On

2014-04-24