Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Zfp810'

314852

Institutional Source

Beutler Lab

Gene Symbol

Zfp810

Ensembl Gene

ENSMUSG00000066829

Gene Name

zinc finger protein 810

Synonyms

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22188044-22218944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22190369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 180 (K180E)

Ref Sequence

ENSEMBL: ENSMUSP00000083459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086278] [ENSMUST00000215202]

AlphaFold

Q99K45

Predicted Effect

probably damaging
Transcript: ENSMUST00000086278
AA Change: K180E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: K180E

Domain	Start	End	E-Value	Type
KRAB	4	64	1.09e-33	SMART
ZnF_C2H2	126	148	2.44e2	SMART
ZnF_C2H2	182	204	3.07e-1	SMART
ZnF_C2H2	210	232	8.47e-4	SMART
ZnF_C2H2	238	260	6.78e-3	SMART
ZnF_C2H2	266	288	6.13e-1	SMART
ZnF_C2H2	294	316	5.06e-2	SMART
ZnF_C2H2	322	344	4.79e-3	SMART
ZnF_C2H2	350	372	2.99e-4	SMART
ZnF_C2H2	378	400	1.33e-1	SMART
ZnF_C2H2	406	428	2.75e-3	SMART
ZnF_C2H2	434	456	1.58e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214499

Predicted Effect

probably benign
Transcript: ENSMUST00000215202

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Bak1	T	A	17: 27,240,244 (GRCm39)	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Chst5	T	C	8: 112,616,816 (GRCm39)	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Mcc	T	C	18: 44,857,707 (GRCm39)	D136G	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Washc3	G	A	10: 88,055,142 (GRCm39)	E111K	probably benign	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het

Other mutations in Zfp810

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Zfp810	APN	9	22,189,605 (GRCm39)	nonsense	probably null
IGL03079:Zfp810	APN	9	22,195,423 (GRCm39)	missense	probably damaging	1.00
IGL03402:Zfp810	APN	9	22,190,441 (GRCm39)	splice site	probably null
H8562:Zfp810	UTSW	9	22,190,387 (GRCm39)	missense	probably benign	0.42
R1116:Zfp810	UTSW	9	22,190,381 (GRCm39)	missense	probably benign	0.11
R1160:Zfp810	UTSW	9	22,189,828 (GRCm39)	missense	possibly damaging	0.64
R1171:Zfp810	UTSW	9	22,190,122 (GRCm39)	missense	possibly damaging	0.95
R1393:Zfp810	UTSW	9	22,191,810 (GRCm39)	missense	probably benign
R1608:Zfp810	UTSW	9	22,190,216 (GRCm39)	missense	probably benign	0.00
R1644:Zfp810	UTSW	9	22,190,324 (GRCm39)	missense	possibly damaging	0.67
R1766:Zfp810	UTSW	9	22,189,828 (GRCm39)	missense	possibly damaging	0.64
R2568:Zfp810	UTSW	9	22,190,534 (GRCm39)	missense	probably benign	0.01
R3684:Zfp810	UTSW	9	22,189,531 (GRCm39)	missense	probably benign	0.01
R4002:Zfp810	UTSW	9	22,190,188 (GRCm39)	missense	probably damaging	1.00
R4134:Zfp810	UTSW	9	22,190,369 (GRCm39)	missense	probably damaging	0.97
R4334:Zfp810	UTSW	9	22,190,080 (GRCm39)	missense	probably benign	0.00
R4545:Zfp810	UTSW	9	22,190,041 (GRCm39)	missense	probably damaging	0.96
R5399:Zfp810	UTSW	9	22,190,125 (GRCm39)	missense	possibly damaging	0.91
R5622:Zfp810	UTSW	9	22,190,392 (GRCm39)	missense	probably benign	0.00
R5643:Zfp810	UTSW	9	22,194,467 (GRCm39)	missense	probably benign	0.26
R7375:Zfp810	UTSW	9	22,201,833 (GRCm39)	critical splice donor site	probably null
R7441:Zfp810	UTSW	9	22,190,568 (GRCm39)	nonsense	probably null
R7809:Zfp810	UTSW	9	22,190,278 (GRCm39)	missense	possibly damaging	0.51
R8422:Zfp810	UTSW	9	22,194,518 (GRCm39)	nonsense	probably null
R8526:Zfp810	UTSW	9	22,189,586 (GRCm39)	missense	probably damaging	1.00
R8719:Zfp810	UTSW	9	22,190,571 (GRCm39)	missense	probably benign	0.00
R9177:Zfp810	UTSW	9	22,189,936 (GRCm39)	missense	probably damaging	1.00
R9479:Zfp810	UTSW	9	22,194,497 (GRCm39)	missense	possibly damaging	0.68
R9521:Zfp810	UTSW	9	22,190,227 (GRCm39)	missense	possibly damaging	0.81
R9683:Zfp810	UTSW	9	22,189,799 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGTAGAAAGCCTTCCTGCAGTC -3'
(R):5'- TCATGAGGAAATCCACCGAGGG -3'

Sequencing Primer
(F):5'- ACATTCATAAGGCTTCTCACCGG -3'
(R):5'- ACCGAGGGGCCAAATCCTATG -3'

Posted On

2015-05-14