Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22363336-22385153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22366415 bp (GRCm39)

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]

AlphaFold

Q8BIQ6

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: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abi2	C	A	1: 60,503,738 (GRCm39)	P212T	probably damaging	Het
Ano4	A	G	10: 89,153,108 (GRCm39)	F68S	possibly damaging	Het
Art5	C	A	7: 101,747,591 (GRCm39)	A63S	probably benign	Het
Asgr1	T	A	11: 69,947,247 (GRCm39)	S96R	probably benign	Het
Bdp1	A	T	13: 100,163,957 (GRCm39)	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 135,998,705 (GRCm39)	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,390,738 (GRCm39)	K357E	probably damaging	Het
Cdhr18	T	C	14: 13,864,282 (GRCm38)	N348S	probably damaging	Het
Cfap52	C	T	11: 67,837,126 (GRCm39)	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,456,965 (GRCm39)	F249S	probably damaging	Het
Ece2	A	G	16: 20,449,112 (GRCm39)	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,871,760 (GRCm39)	T425I	probably damaging	Het
Eprs1	A	G	1: 185,128,306 (GRCm39)	E562G	probably damaging	Het
Fbn2	T	C	18: 58,177,295 (GRCm39)	T2001A	probably benign	Het
Flt4	G	A	11: 49,527,867 (GRCm39)	R940H	probably damaging	Het
Fry	T	A	5: 150,351,644 (GRCm39)	M1716K	probably benign	Het
Gm10684	T	A	9: 45,019,039 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,311,416 (GRCm39)	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Il23r	C	T	6: 67,455,938 (GRCm39)	V177M	probably damaging	Het
Klf12	T	C	14: 100,137,650 (GRCm39)	S299G	probably benign	Het
Lama5	G	A	2: 179,848,806 (GRCm39)	R265C	probably damaging	Het
Lifr	A	G	15: 7,216,424 (GRCm39)	T800A	probably damaging	Het
Megf8	T	C	7: 25,063,831 (GRCm39)	L2729P	probably damaging	Het
Mki67	A	C	7: 135,298,532 (GRCm39)	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,534,032 (GRCm39)	K400E	probably damaging	Het
Nomo1	T	A	7: 45,712,423 (GRCm39)	I656N	possibly damaging	Het
Oas3	T	C	5: 120,907,384 (GRCm39)	T418A	probably benign	Het
Olr1	A	G	6: 129,470,504 (GRCm39)	L221P	probably damaging	Het
Or14c44	C	T	7: 86,062,478 (GRCm39)	L303F	probably benign	Het
Or5m9	T	C	2: 85,876,928 (GRCm39)	M34T	probably benign	Het
Or8b3	T	A	9: 38,314,601 (GRCm39)	C144S	probably benign	Het
Or8g22	A	G	9: 38,958,403 (GRCm39)	V104A	probably damaging	Het
Or8k28	T	A	2: 86,286,133 (GRCm39)	I161L	probably benign	Het
Pih1d1	C	T	7: 44,805,738 (GRCm39)	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,703,967 (GRCm39)	S656R	probably damaging	Het
Polr3f	A	G	2: 144,377,943 (GRCm39)	D171G	probably damaging	Het
Rasal1	T	C	5: 120,787,566 (GRCm39)	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Sptbn4	T	A	7: 27,063,595 (GRCm39)	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,502,240 (GRCm39)	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,066,499 (GRCm39)	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 63,989,150 (GRCm39)	Q30K	probably benign	Het
Wipf2	C	T	11: 98,787,005 (GRCm39)	P345S	probably benign	Het
Zeb2	G	T	2: 44,878,652 (GRCm39)	S1170*	probably null	Het

Other mutations in Zfp947

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02092:Zfp947	APN	17	22,366,477 (GRCm39)	missense	probably damaging	1.00
IGL02592:Zfp947	APN	17	22,365,233 (GRCm39)	missense	possibly damaging	0.95
deformity	UTSW	17	22,364,594 (GRCm39)	missense	probably damaging	1.00
Gnarled	UTSW	17	22,365,165 (GRCm39)	missense	probably benign	0.00
R0070:Zfp947	UTSW	17	22,365,165 (GRCm39)	missense	probably benign	0.00
R1519:Zfp947	UTSW	17	22,365,273 (GRCm39)	missense	probably benign	0.02
R1521:Zfp947	UTSW	17	22,364,813 (GRCm39)	missense	probably benign	0.00
R1639:Zfp947	UTSW	17	22,365,074 (GRCm39)	missense	probably benign
R1721:Zfp947	UTSW	17	22,365,184 (GRCm39)	missense	probably benign
R1801:Zfp947	UTSW	17	22,365,443 (GRCm39)	missense	probably benign
R2264:Zfp947	UTSW	17	22,364,919 (GRCm39)	missense	probably benign
R3943:Zfp947	UTSW	17	22,364,801 (GRCm39)	missense	probably damaging	1.00
R4561:Zfp947	UTSW	17	22,365,124 (GRCm39)	nonsense	probably null
R4562:Zfp947	UTSW	17	22,365,124 (GRCm39)	nonsense	probably null
R4943:Zfp947	UTSW	17	22,364,813 (GRCm39)	missense	probably benign
R5688:Zfp947	UTSW	17	22,365,066 (GRCm39)	missense	probably benign	0.00
R6037:Zfp947	UTSW	17	22,366,415 (GRCm39)	missense	probably damaging	0.99
R6414:Zfp947	UTSW	17	22,365,395 (GRCm39)	missense	probably damaging	0.98
R6786:Zfp947	UTSW	17	22,364,750 (GRCm39)	missense	probably benign	0.01
R6993:Zfp947	UTSW	17	22,364,961 (GRCm39)	missense	probably benign	0.11
R7556:Zfp947	UTSW	17	22,364,597 (GRCm39)	missense	probably benign
R8224:Zfp947	UTSW	17	22,364,363 (GRCm39)	missense	probably benign
R8398:Zfp947	UTSW	17	22,365,102 (GRCm39)	missense	probably benign	0.03
R8670:Zfp947	UTSW	17	22,364,687 (GRCm39)	missense	probably benign	0.09
R8871:Zfp947	UTSW	17	22,364,695 (GRCm39)	missense	probably benign	0.13
R9000:Zfp947	UTSW	17	22,365,161 (GRCm39)	missense	probably benign	0.12
R9099:Zfp947	UTSW	17	22,364,855 (GRCm39)	missense	probably benign	0.00
R9180:Zfp947	UTSW	17	22,364,386 (GRCm39)	missense	probably damaging	1.00
R9287:Zfp947	UTSW	17	22,364,594 (GRCm39)	missense	probably damaging	1.00
R9371:Zfp947	UTSW	17	22,364,384 (GRCm39)	missense	possibly damaging	0.63
R9507:Zfp947	UTSW	17	22,364,582 (GRCm39)	missense	probably benign	0.00
R9738:Zfp947	UTSW	17	22,365,341 (GRCm39)	missense	probably benign	0.01

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