Mutagenetix > Incidental Mutation

Incidental Mutation 'R1978:Zfp976'

222008

Institutional Source

Beutler Lab

Gene Symbol

Zfp976

Ensembl Gene

ENSMUSG00000074158

Gene Name

zinc finger protein 976

Synonyms

9830147E19Rik

MMRRC Submission

039991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42609526-42642588 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42613841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 191 (C191R)

Ref Sequence

ENSEMBL: ENSMUSP00000141023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098503] [ENSMUST00000187616]

AlphaFold

E9Q981

Predicted Effect

probably damaging
Transcript: ENSMUST00000098503
AA Change: C192R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: C192R

Domain	Start	End	E-Value	Type
KRAB	4	66	1.73e-18	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	1.67e-2	SMART
ZnF_C2H2	187	209	5.9e-3	SMART
ZnF_C2H2	215	237	1.38e-3	SMART
ZnF_C2H2	243	265	8.94e-3	SMART
ZnF_C2H2	271	293	2.24e-3	SMART
ZnF_C2H2	299	321	1.03e-2	SMART
ZnF_C2H2	327	349	1.58e-3	SMART
ZnF_C2H2	355	377	7.9e-4	SMART
ZnF_C2H2	383	405	5.9e-3	SMART
ZnF_C2H2	411	433	2.57e-3	SMART
ZnF_C2H2	439	461	3.16e-3	SMART
ZnF_C2H2	467	489	1.26e-2	SMART
ZnF_C2H2	495	517	8.34e-3	SMART
ZnF_C2H2	523	545	3.63e-3	SMART
ZnF_C2H2	551	573	4.79e-3	SMART
ZnF_C2H2	579	601	9.73e-4	SMART
ZnF_C2H2	607	629	3.63e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107994

Predicted Effect

probably damaging
Transcript: ENSMUST00000187616
AA Change: C191R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: C191R

Domain	Start	End	E-Value	Type
KRAB	3	65	7.4e-21	SMART
ZnF_C2H2	130	152	3.2e-5	SMART
ZnF_C2H2	158	180	7.1e-5	SMART
ZnF_C2H2	186	208	2.4e-5	SMART
ZnF_C2H2	214	236	5.7e-6	SMART
ZnF_C2H2	242	264	3.8e-5	SMART
ZnF_C2H2	270	292	9.7e-6	SMART
ZnF_C2H2	298	320	4.2e-5	SMART
ZnF_C2H2	326	348	6.6e-6	SMART
ZnF_C2H2	354	376	3.3e-6	SMART
ZnF_C2H2	382	404	2.5e-5	SMART
ZnF_C2H2	410	432	1e-5	SMART
ZnF_C2H2	438	460	1.3e-5	SMART
ZnF_C2H2	466	488	5.2e-5	SMART
ZnF_C2H2	494	516	3.6e-5	SMART
ZnF_C2H2	522	544	1.6e-5	SMART
ZnF_C2H2	550	572	2e-5	SMART
ZnF_C2H2	578	600	4e-6	SMART
ZnF_C2H2	606	628	1.5e-5	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het

Other mutations in Zfp976

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Zfp976	APN	7	42613685	missense	unknown
IGL01102:Zfp976	APN	7	42613909	nonsense	probably null
IGL01111:Zfp976	APN	7	42616287	missense	probably damaging	0.99
IGL01628:Zfp976	APN	7	42612511	missense	unknown
IGL02008:Zfp976	APN	7	42614232	splice site	probably benign
IGL02548:Zfp976	APN	7	42612529	missense	unknown
R0190:Zfp976	UTSW	7	42642524	start gained	probably benign
R0685:Zfp976	UTSW	7	42613717	missense	probably damaging	0.98
R1310:Zfp976	UTSW	7	42613186	missense	probably damaging	1.00
R1353:Zfp976	UTSW	7	42616018	missense	probably damaging	0.99
R1447:Zfp976	UTSW	7	42612599	missense	possibly damaging	0.79
R1569:Zfp976	UTSW	7	42613382	missense	probably damaging	1.00
R1702:Zfp976	UTSW	7	42616000	missense	possibly damaging	0.86
R1829:Zfp976	UTSW	7	42616311	missense	probably damaging	1.00
R1939:Zfp976	UTSW	7	42613681	missense	unknown
R1981:Zfp976	UTSW	7	42613622	missense	probably damaging	0.99
R2160:Zfp976	UTSW	7	42613930	missense	probably benign
R2192:Zfp976	UTSW	7	42613271	missense	probably damaging	1.00
R3121:Zfp976	UTSW	7	42613514	missense	probably damaging	1.00
R4210:Zfp976	UTSW	7	42616325	missense	probably damaging	0.99
R4724:Zfp976	UTSW	7	42613033	missense	possibly damaging	0.91
R4943:Zfp976	UTSW	7	42612422	unclassified	probably benign
R5047:Zfp976	UTSW	7	42613419	nonsense	probably null
R5071:Zfp976	UTSW	7	42612930	nonsense	probably null
R5125:Zfp976	UTSW	7	42612501	splice site	probably null
R5178:Zfp976	UTSW	7	42612501	splice site	probably null
R5305:Zfp976	UTSW	7	42613478	missense	probably benign	0.00
R5777:Zfp976	UTSW	7	42614080	missense	probably benign	0.00
R6153:Zfp976	UTSW	7	42614186	missense	probably damaging	0.99
R6694:Zfp976	UTSW	7	42614186	missense	probably damaging	0.99
R7226:Zfp976	UTSW	7	42613260	nonsense	probably null
R7479:Zfp976	UTSW	7	42613179	missense	probably benign	0.01
R7561:Zfp976	UTSW	7	42616277	missense	probably damaging	1.00
R8178:Zfp976	UTSW	7	42613535	missense	probably benign	0.03
R8261:Zfp976	UTSW	7	42612701	missense	unknown
R8715:Zfp976	UTSW	7	42613445	missense	possibly damaging	0.89
R8921:Zfp976	UTSW	7	42613151	missense	possibly damaging	0.57
R9168:Zfp976	UTSW	7	42613587	nonsense	probably null
R9575:Zfp976	UTSW	7	42612617	missense	unknown
Z1088:Zfp976	UTSW	7	42612760	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GTGTGAATAGGCTTTATCACACAG -3'
(R):5'- GCCTTCAAATATCACAGTCATCTTC -3'

Sequencing Primer
(F):5'- TGAATAGGCTTTATCACACAGATTAC -3'
(R):5'- GTGCATGCATGTCAAAGTACTCTC -3'

Posted On

2014-08-25