Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Zfp976'

528496

Institutional Source

Beutler Lab

Gene Symbol

Zfp976

Ensembl Gene

ENSMUSG00000074158

Gene Name

zinc finger protein 976

Synonyms

9830147E19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42609526-42642588 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42614186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 76 (Y76N)

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: Y77N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: Y77N

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: Y76N

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

SMART Domains

Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: Y76N

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Ccdc116	T	C	16: 17,142,791	E54G	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Exoc3l	G	C	8: 105,290,490	R622G	probably benign	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,625,526	E16G	probably damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Nuak2	T	G	1: 132,332,310	S609A	probably damaging	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,962,277	E373G	probably benign	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,935,134	A383V	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	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
R5777:Zfp976	UTSW	7	42614080	missense	probably benign	0.00
R6153: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
Z1088:Zfp976	UTSW	7	42612760	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TTACATATGTAGGGTCTCACTCCA -3'
(R):5'- TCTAGTCCCGTGATAAAGCCC -3'

Sequencing Primer
(F):5'- CATGTGCTCGAAGATACTTGAGC -3'
(R):5'- TAGTCCCGTGATAAAGCCCTAAGATC -3'

Posted On

2018-07-24