Mutagenetix > Incidental Mutation

Incidental Mutation 'R5777:Zfp976'

446757

Institutional Source

Beutler Lab

Gene Symbol

Zfp976

Ensembl Gene

ENSMUSG00000074158

Gene Name

zinc finger protein 976

Synonyms

9830147E19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42609526-42642588 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42614080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 111 (H111P)

Ref Sequence

ENSEMBL: ENSMUSP00000141023 (fasta)

Gene Model

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

AlphaFold

E9Q981

Predicted Effect

probably benign
Transcript: ENSMUST00000098503
AA Change: H112P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: H112P

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 benign
Transcript: ENSMUST00000187616
AA Change: H111P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: H111P

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Amph	A	T	13: 19,046,016	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,832,522	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,890,749	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548	I306F	probably benign	Het
Cobll1	A	T	2: 65,103,268	M460K	probably benign	Het
Col6a4	A	T	9: 106,013,696	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,394,068	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,675,885	H618R	probably benign	Het
Dhx38	C	A	8: 109,556,902	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,159,813	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,338,536	L51P	probably damaging	Het
Gm4781	C	T	10: 100,396,969		noncoding transcript	Het
Gm5134	C	A	10: 76,004,760	F479L	probably benign	Het
Hexa	T	G	9: 59,560,960	V290G	probably damaging	Het
Hist3h2ba	A	G	11: 58,949,009	K24E	probably benign	Het
Ifi206	C	T	1: 173,481,362	R356K	possibly damaging	Het
Kcnj12	G	A	11: 61,070,451	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,455,525	I3774N	probably damaging	Het
Msh4	C	A	3: 153,863,439	M832I	probably benign	Het
Myh10	A	G	11: 68,785,859	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,660,482	C32*	probably null	Het
Nos2	A	G	11: 78,940,152	E387G	probably null	Het
Olfr1062	A	G	2: 86,423,325	V117A	probably benign	Het
Olfr1311	C	T	2: 112,021,531	G108R	probably damaging	Het
Olfr1352	A	C	10: 78,984,678	D296A	possibly damaging	Het
Olfr197	T	A	16: 59,185,903	L193F	unknown	Het
Olfr545	A	G	7: 102,493,971	V268A	probably benign	Het
Olfr847	A	T	9: 19,375,718	H54Q	probably benign	Het
P3h3	T	C	6: 124,855,958	T211A	probably benign	Het
Pcdh7	A	G	5: 57,719,514	N137S	probably damaging	Het
Pgf	T	C	12: 85,169,374	T157A	possibly damaging	Het
Prex1	T	C	2: 166,586,659	D714G	probably damaging	Het
Scn7a	T	C	2: 66,692,569	I930M	probably damaging	Het
Siglecg	T	C	7: 43,409,413	S197P	possibly damaging	Het
Skint7	T	A	4: 111,988,092	I367N	probably benign	Het
Slfn5	A	T	11: 82,961,004	D652V	probably damaging	Het
Stx1b	G	A	7: 127,810,918	Q3*	probably null	Het
Tex35	T	C	1: 157,107,207	M46V	probably benign	Het
Tkt	A	C	14: 30,558,776	T55P	possibly damaging	Het
Trim30c	T	C	7: 104,383,331	R263G	probably benign	Het
U2af2	G	A	7: 5,066,451	R33Q	probably benign	Het
Washc4	T	A	10: 83,555,605	V182D	probably damaging	Het
Xirp2	T	C	2: 67,510,004	V863A	possibly damaging	Het
Zfp982	A	T	4: 147,510,864	N48Y	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
R1978:Zfp976	UTSW	7	42613841	missense	probably damaging	1.00
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
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'- TGTAGGGTCTCACTCCAGTATGTA -3'
(R):5'- CCATCTCTCTAGTCCCGTGATAA -3'

Sequencing Primer
(F):5'- CTCCTTAGAGTAAAGGCTTTAGCAC -3'
(R):5'- TCTAGTCCCGTGATAAAGCCCTAAG -3'

Posted On

2016-12-15