Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Zfp947'

486653

Institutional Source

Beutler Lab

Gene Symbol

Zfp947

Ensembl Gene

ENSMUSG00000063383

Gene Name

zinc finger protein 947

Synonyms

Gm4769

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22144359-22166190 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22147434 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 38 (Y38H)

Ref Sequence

ENSEMBL: ENSMUSP00000079137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080249]

Predicted Effect

probably damaging
Transcript: ENSMUST00000080249
AA Change: Y38H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079137
Gene: ENSMUSG00000063383
AA Change: Y38H

Domain	Start	End	E-Value	Type
KRAB	13	73	9.26e-19	SMART
ZnF_C2H2	183	205	7.05e-1	SMART
ZnF_C2H2	211	233	1.5e-4	SMART
ZnF_C2H2	239	261	7.67e-2	SMART
ZnF_C2H2	267	289	2.79e-4	SMART
ZnF_C2H2	295	317	5.59e-4	SMART
ZnF_C2H2	323	345	4.24e-4	SMART
ZnF_C2H2	351	373	3.21e-4	SMART
ZnF_C2H2	379	401	5.99e-4	SMART
ZnF_C2H2	407	429	8.02e-5	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het

Other mutations in Zfp947

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02092:Zfp947	APN	17	22147496	missense	probably damaging	1.00
IGL02592:Zfp947	APN	17	22146252	missense	possibly damaging	0.95
R0070:Zfp947	UTSW	17	22146184	missense	probably benign	0.00
R1519:Zfp947	UTSW	17	22146292	missense	probably benign	0.02
R1521:Zfp947	UTSW	17	22145832	missense	probably benign	0.00
R1639:Zfp947	UTSW	17	22146093	missense	probably benign
R1721:Zfp947	UTSW	17	22146203	missense	probably benign
R1801:Zfp947	UTSW	17	22146462	missense	probably benign
R2264:Zfp947	UTSW	17	22145938	missense	probably benign
R3943:Zfp947	UTSW	17	22145820	missense	probably damaging	1.00
R4561:Zfp947	UTSW	17	22146143	nonsense	probably null
R4562:Zfp947	UTSW	17	22146143	nonsense	probably null
R4943:Zfp947	UTSW	17	22145832	missense	probably benign
R5688:Zfp947	UTSW	17	22146085	missense	probably benign	0.00
R6037:Zfp947	UTSW	17	22147434	missense	probably damaging	0.99
R6414:Zfp947	UTSW	17	22146414	missense	probably damaging	0.98
R6786:Zfp947	UTSW	17	22145769	missense	probably benign	0.01
R6993:Zfp947	UTSW	17	22145980	missense	probably benign	0.11
R7556:Zfp947	UTSW	17	22145616	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTATGTTGGTAACCACGATTTCC -3'
(R):5'- TCCTATGCATCGTCTTATAAGAGC -3'

Sequencing Primer
(F):5'- AACCACGATTTCCTTTATTCTGGGAG -3'
(R):5'- GCATCGTCTTATAAGAGCAACAATG -3'

Posted On

2017-08-16