Mutagenetix > Incidental Mutation

Incidental Mutation 'R8715:Zfp976'

669817

Institutional Source

Beutler Lab

Gene Symbol

Zfp976

Ensembl Gene

ENSMUSG00000074158

Gene Name

zinc finger protein 976

Synonyms

9830147E19Rik

MMRRC Submission

068613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42258950-42292012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42262869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 324 (E324K)

Ref Sequence

ENSEMBL: ENSMUSP00000096105 (fasta)

Gene Model

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

AlphaFold

E9Q981

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098503
AA Change: E324K

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: E324K

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

probably damaging
Transcript: ENSMUST00000187616
AA Change: E323K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: E323K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,862,750 (GRCm39)	H144L	probably benign	Het
Adam25	A	G	8: 41,207,099 (GRCm39)	N122D	probably benign	Het
Armc10	T	C	5: 21,858,516 (GRCm39)	F187S	possibly damaging	Het
Atosb	A	G	4: 43,033,944 (GRCm39)	V444A	possibly damaging	Het
Best3	T	A	10: 116,828,971 (GRCm39)	F84I	probably damaging	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccdc60	A	T	5: 116,328,153 (GRCm39)	F104I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdhr4	G	A	9: 107,874,596 (GRCm39)	V9M		Het
Cfap46	T	C	7: 139,185,560 (GRCm39)	T41A		Het
Cyp2c66	A	G	19: 39,159,388 (GRCm39)	T280A	probably benign	Het
Dis3l	C	T	9: 64,214,342 (GRCm39)	D1049N	probably benign	Het
Dlc1	T	A	8: 37,405,795 (GRCm39)		probably benign	Het
Faap100	T	C	11: 120,265,299 (GRCm39)	T526A	probably benign	Het
Gimap6	A	T	6: 48,679,552 (GRCm39)	D161E	probably damaging	Het
Gmpr	T	C	13: 45,696,102 (GRCm39)	V282A	possibly damaging	Het
Gsap	A	G	5: 21,431,245 (GRCm39)	I190V	possibly damaging	Het
Gucy2d	C	T	7: 98,093,319 (GRCm39)	T232I	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrp1	C	A	10: 127,396,490 (GRCm39)	S2358I	possibly damaging	Het
Lrrc74a	A	G	12: 86,805,239 (GRCm39)	N354D	probably damaging	Het
Mdga2	T	C	12: 66,915,526 (GRCm39)	E112G	probably damaging	Het
Msh6	C	T	17: 88,293,195 (GRCm39)	T650I	probably benign	Het
Mst1	T	C	9: 107,959,242 (GRCm39)	V203A	possibly damaging	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Naa11	A	G	5: 97,540,066 (GRCm39)	Y31H	probably damaging	Het
Nphp1	G	T	2: 127,605,729 (GRCm39)	H365Q	possibly damaging	Het
Or1p4-ps1	T	A	11: 74,207,986 (GRCm39)	I45N	probably damaging	Het
Or2y17	A	T	11: 49,232,154 (GRCm39)	Y265F	probably damaging	Het
Or5m13	G	A	2: 85,748,273 (GRCm39)	M1I	probably null	Het
Osbpl9	A	G	4: 108,959,773 (GRCm39)	F15S	probably benign	Het
Pcdha12	A	C	18: 37,153,523 (GRCm39)	N81H	probably damaging	Het
Pde4d	A	G	13: 110,071,876 (GRCm39)	Q290R	probably benign	Het
Pla1a	A	T	16: 38,230,000 (GRCm39)	N237K	probably damaging	Het
Podnl1	T	C	8: 84,855,956 (GRCm39)	Y239H		Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ptch2	T	C	4: 116,968,719 (GRCm39)	V995A	probably damaging	Het
Ptprt	C	T	2: 161,372,463 (GRCm39)	C1403Y	probably damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rspry1	A	G	8: 95,349,888 (GRCm39)	E92G	probably damaging	Het
Sdccag8	T	A	1: 176,773,803 (GRCm39)		probably benign	Het
Sdk2	G	A	11: 113,671,728 (GRCm39)	T2140M	probably damaging	Het
Serpina1e	T	C	12: 103,917,177 (GRCm39)	N164S	probably benign	Het
Shisal1	A	C	15: 84,301,346 (GRCm39)	V99G	probably damaging	Het
Tdrkh	T	C	3: 94,331,968 (GRCm39)	V131A	probably damaging	Het
Tm9sf3	T	A	19: 41,244,724 (GRCm39)	N51I	probably damaging	Het
Trav4-3	A	G	14: 53,836,762 (GRCm39)	N76D	possibly damaging	Het
Trhr2	T	A	8: 123,085,619 (GRCm39)	I122F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r99	A	T	17: 19,613,922 (GRCm39)		probably benign	Het
Zfp663	T	C	2: 165,194,644 (GRCm39)	E525G	probably damaging	Het

Other mutations in Zfp976

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Zfp976	APN	7	42,263,109 (GRCm39)	missense	unknown
IGL01102:Zfp976	APN	7	42,263,333 (GRCm39)	nonsense	probably null
IGL01111:Zfp976	APN	7	42,265,711 (GRCm39)	missense	probably damaging	0.99
IGL01628:Zfp976	APN	7	42,261,935 (GRCm39)	missense	unknown
IGL02008:Zfp976	APN	7	42,263,656 (GRCm39)	splice site	probably benign
IGL02548:Zfp976	APN	7	42,261,953 (GRCm39)	missense	unknown
R0190:Zfp976	UTSW	7	42,291,948 (GRCm39)	start gained	probably benign
R0685:Zfp976	UTSW	7	42,263,141 (GRCm39)	missense	probably damaging	0.98
R1310:Zfp976	UTSW	7	42,262,610 (GRCm39)	missense	probably damaging	1.00
R1353:Zfp976	UTSW	7	42,265,442 (GRCm39)	missense	probably damaging	0.99
R1447:Zfp976	UTSW	7	42,262,023 (GRCm39)	missense	possibly damaging	0.79
R1569:Zfp976	UTSW	7	42,262,806 (GRCm39)	missense	probably damaging	1.00
R1702:Zfp976	UTSW	7	42,265,424 (GRCm39)	missense	possibly damaging	0.86
R1829:Zfp976	UTSW	7	42,265,735 (GRCm39)	missense	probably damaging	1.00
R1939:Zfp976	UTSW	7	42,263,105 (GRCm39)	missense	unknown
R1978:Zfp976	UTSW	7	42,263,265 (GRCm39)	missense	probably damaging	1.00
R1981:Zfp976	UTSW	7	42,263,046 (GRCm39)	missense	probably damaging	0.99
R2160:Zfp976	UTSW	7	42,263,354 (GRCm39)	missense	probably benign
R2192:Zfp976	UTSW	7	42,262,695 (GRCm39)	missense	probably damaging	1.00
R3121:Zfp976	UTSW	7	42,262,938 (GRCm39)	missense	probably damaging	1.00
R4210:Zfp976	UTSW	7	42,265,749 (GRCm39)	missense	probably damaging	0.99
R4724:Zfp976	UTSW	7	42,262,457 (GRCm39)	missense	possibly damaging	0.91
R4943:Zfp976	UTSW	7	42,261,846 (GRCm39)	unclassified	probably benign
R5047:Zfp976	UTSW	7	42,262,843 (GRCm39)	nonsense	probably null
R5071:Zfp976	UTSW	7	42,262,354 (GRCm39)	nonsense	probably null
R5125:Zfp976	UTSW	7	42,261,925 (GRCm39)	splice site	probably null
R5178:Zfp976	UTSW	7	42,261,925 (GRCm39)	splice site	probably null
R5305:Zfp976	UTSW	7	42,262,902 (GRCm39)	missense	probably benign	0.00
R5777:Zfp976	UTSW	7	42,263,504 (GRCm39)	missense	probably benign	0.00
R6153:Zfp976	UTSW	7	42,263,610 (GRCm39)	missense	probably damaging	0.99
R6694:Zfp976	UTSW	7	42,263,610 (GRCm39)	missense	probably damaging	0.99
R7226:Zfp976	UTSW	7	42,262,684 (GRCm39)	nonsense	probably null
R7479:Zfp976	UTSW	7	42,262,603 (GRCm39)	missense	probably benign	0.01
R7561:Zfp976	UTSW	7	42,265,701 (GRCm39)	missense	probably damaging	1.00
R8178:Zfp976	UTSW	7	42,262,959 (GRCm39)	missense	probably benign	0.03
R8261:Zfp976	UTSW	7	42,262,125 (GRCm39)	missense	unknown
R8921:Zfp976	UTSW	7	42,262,575 (GRCm39)	missense	possibly damaging	0.57
R9168:Zfp976	UTSW	7	42,263,011 (GRCm39)	nonsense	probably null
R9575:Zfp976	UTSW	7	42,262,041 (GRCm39)	missense	unknown
Z1088:Zfp976	UTSW	7	42,262,184 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TGGGATGTAAGAAGGCTTTATCACA -3'
(R):5'- ATTCACACCAGAGTAATCTCCGAA -3'

Sequencing Primer
(F):5'- TCATGCATTCGAAGATAGCTGG -3'
(R):5'- ACCAGAGTAATCTCCGAATACATG -3'

Posted On

2021-04-30