Mutagenetix > Incidental Mutations

Incidental Mutation 'R1721:Zfp947'

191505

Institutional Source

Beutler Lab

Gene Symbol

Zfp947

Ensembl Gene

ENSMUSG00000063383

Gene Name

zinc finger protein 947

Synonyms

Gm4769

MMRRC Submission

039753-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22144359-22166190 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22146203 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 163 (N163K)

Ref Sequence

ENSEMBL: ENSMUSP00000079137 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080249
AA Change: N163K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079137
Gene: ENSMUSG00000063383
AA Change: N163K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,743,598	S743T	probably damaging	Het
Acin1	A	T	14: 54,664,538	V559E	probably benign	Het
Adamts20	A	G	15: 94,338,459	F844L	probably benign	Het
Adcy5	C	A	16: 35,298,424	D1048E	probably damaging	Het
Agrn	A	T	4: 156,175,173	C768*	probably null	Het
Aldh18a1	G	T	19: 40,564,838	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,921,271		probably benign	Het
Asb18	T	G	1: 89,968,580	D246A	probably benign	Het
Atp2b1	T	C	10: 98,996,888	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,838,598		probably null	Het
Cage1	T	A	13: 38,023,333	K285*	probably null	Het
Cldn17	A	G	16: 88,506,556	L95P	probably damaging	Het
Cldn20	A	T	17: 3,532,882	D110V	probably damaging	Het
Cnot10	T	C	9: 114,614,999	T443A	probably benign	Het
Col14a1	T	A	15: 55,447,462		probably benign	Het
Col23a1	T	C	11: 51,527,889	Y135H	unknown	Het
Cse1l	T	C	2: 166,926,411	S210P	probably damaging	Het
Cspg4	T	G	9: 56,888,743	V1254G	probably damaging	Het
Ctgf	A	C	10: 24,596,797	T202P	probably damaging	Het
Dip2c	A	G	13: 9,659,368	T1415A	probably damaging	Het
Epc2	A	G	2: 49,532,105	Y337C	probably damaging	Het
Epha2	A	G	4: 141,322,652	S799G	probably damaging	Het
Fndc10	A	G	4: 155,694,898	Y133C	probably damaging	Het
Gli3	G	T	13: 15,726,297	S1423I	probably benign	Het
Gm6034	A	T	17: 36,043,153		probably benign	Het
Gmip	A	G	8: 69,811,232	S109G	probably damaging	Het
Grik2	C	A	10: 49,523,746	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,454,061	L504H	probably damaging	Het
Il6	T	A	5: 30,013,492	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684	C253F	probably damaging	Het
Itga9	A	G	9: 118,698,306		probably benign	Het
Kcna7	T	C	7: 45,406,921	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,613,181		probably benign	Het
Knl1	T	G	2: 119,076,334	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,656,011	S72P	unknown	Het
Lox	T	G	18: 52,520,911		probably null	Het
Mdc1	A	G	17: 35,847,826	D366G	possibly damaging	Het
Meiob	T	C	17: 24,834,047	C344R	probably damaging	Het
Mier2	A	G	10: 79,548,830	V150A	probably damaging	Het
Mon2	A	T	10: 123,031,097	M551K	probably damaging	Het
Mrps15	A	G	4: 126,051,394	T125A	probably benign	Het
Mtmr14	A	G	6: 113,253,732	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598	M1T	probably null	Het
Mup5	G	A	4: 61,832,370	R179*	probably null	Het
Ncoa3	T	G	2: 166,069,301	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,307,581	N429K	probably benign	Het
Nrxn1	C	T	17: 90,162,404	A241T	probably damaging	Het
Olfr331	C	T	11: 58,501,939	V206M	probably damaging	Het
Olfr59	A	T	11: 74,289,300	Y218F	probably damaging	Het
Pcdh9	G	A	14: 93,888,035	S233L	probably damaging	Het
Peg3	C	A	7: 6,709,901	S774I	possibly damaging	Het
Phyh	A	G	2: 4,937,809	K321R	probably null	Het
Plcg1	T	A	2: 160,731,920	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086		probably benign	Het
Ppargc1b	T	A	18: 61,307,204		probably null	Het
Prcd	A	C	11: 116,657,545	S27R	probably benign	Het
Prx	T	A	7: 27,517,523	M622K	probably benign	Het
Psmd1	T	A	1: 86,071,845	D51E	probably damaging	Het
Psmd13	C	T	7: 140,883,517	T38I	probably damaging	Het
Ptprf	A	C	4: 118,224,899	D1047E	possibly damaging	Het
Rai14	C	A	15: 10,633,228	Q25H	probably damaging	Het
Riiad1	G	A	3: 94,472,869	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,486,270	N53K	probably benign	Het
Scn4a	C	T	11: 106,320,820	R1457H	probably benign	Het
Sema6c	A	T	3: 95,170,788	I492F	probably damaging	Het
Shbg	T	C	11: 69,614,972	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,072,847		probably benign	Het
Slc38a1	G	A	15: 96,587,135	T221M	probably damaging	Het
Slc6a16	T	A	7: 45,261,176	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,472,176	M559L	probably damaging	Het
Slmap	A	G	14: 26,460,218		probably benign	Het
Sorcs2	G	A	5: 36,026,748	R965W	probably damaging	Het
St8sia4	C	A	1: 95,653,669	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,675,338	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,678,810	Y676F	probably benign	Het
Tmod2	A	G	9: 75,586,042		probably benign	Het
Trim75	T	C	8: 64,982,739		probably null	Het
Ubr5	A	T	15: 38,041,846	S169T	probably benign	Het
Usp54	A	T	14: 20,583,440	Y37*	probably null	Het
Vill	T	C	9: 119,066,014	F100S	probably damaging	Het
Vstm5	A	G	9: 15,257,367	R76G	probably benign	Het
Zfp608	T	C	18: 54,899,249	T540A	probably benign	Het
Zfyve26	T	C	12: 79,261,799	H228R	possibly damaging	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
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
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'- aagatcaccAACTTGAATGAAACAtttctcac -3'
(R):5'- TGTTGAATCATCAAACCTAAGCAGACATGAA -3'

Sequencing Primer
(F):5'- gatgaatactaagactgcctttctg -3'
(R):5'- GAAACTAAAAACAACAGAGAACCTTG -3'

Posted On

2014-05-14