Mutagenetix > Incidental Mutation

Incidental Mutation 'R4210:Zfp976'

319127

Institutional Source

Beutler Lab

Gene Symbol

Zfp976

Ensembl Gene

ENSMUSG00000074158

Gene Name

zinc finger protein 976

Synonyms

9830147E19Rik

MMRRC Submission

041039-MU

Accession Numbers

Essential gene?

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

Stock #

R4210 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

42258950-42292012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42265749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 12 (F12S)

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: F13S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: F13S

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: F12S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: F12S

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,490,222 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,708 (GRCm39)	Y1076H	probably damaging	Het
Adamts7	C	T	9: 90,076,063 (GRCm39)	T1265I	possibly damaging	Het
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Axin2	T	A	11: 108,833,402 (GRCm39)	I529N	possibly damaging	Het
Bbof1	T	C	12: 84,455,957 (GRCm39)	M1T	probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cmpk2	G	T	12: 26,519,570 (GRCm39)	A74S	probably benign	Het
Colgalt1	G	A	8: 72,075,350 (GRCm39)	V419I	probably benign	Het
Crybg3	A	G	16: 59,364,414 (GRCm39)	S2403P	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,632 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,176,578 (GRCm39)	C733S	possibly damaging	Het
Drc1	G	A	5: 30,504,490 (GRCm39)	V211M	possibly damaging	Het
Ephx2	T	C	14: 66,322,393 (GRCm39)	T525A	probably damaging	Het
Eya4	A	G	10: 23,102,698 (GRCm39)		probably null	Het
Foxc1	T	C	13: 31,991,690 (GRCm39)	F167S	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Gm6370	C	A	5: 146,430,734 (GRCm39)	F306L	possibly damaging	Het
Hmgcr	A	G	13: 96,796,729 (GRCm39)	V187A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,242 (GRCm39)	S114R	possibly damaging	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Ikzf3	T	C	11: 98,381,313 (GRCm39)	Y89C	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Iqsec3	T	C	6: 121,389,999 (GRCm39)		probably benign	Het
Itga3	C	A	11: 94,953,449 (GRCm39)	V298L	probably benign	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lbh	T	A	17: 73,228,178 (GRCm39)		probably null	Het
Lrba	G	A	3: 86,267,433 (GRCm39)	G1708S	probably damaging	Het
Lrig2	C	T	3: 104,374,620 (GRCm39)	V154I	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mast4	A	T	13: 102,875,713 (GRCm39)	F1318L	probably damaging	Het
Ncam2	T	C	16: 81,323,991 (GRCm39)	V545A	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Or2w1	A	T	13: 21,317,607 (GRCm39)	I221L	possibly damaging	Het
Or6n2	G	A	1: 173,897,574 (GRCm39)	A237T	probably damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Pdlim4	T	G	11: 53,946,744 (GRCm39)	D181A	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Pik3r4	G	A	9: 105,527,957 (GRCm39)	A437T	possibly damaging	Het
Proser3	G	A	7: 30,245,525 (GRCm39)		probably benign	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Rnf152	A	G	1: 105,212,077 (GRCm39)	V160A	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sidt2	T	C	9: 45,854,073 (GRCm39)	T652A	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Sspo	C	A	6: 48,441,835 (GRCm39)	H1948Q	probably benign	Het
Stap2	G	T	17: 56,304,827 (GRCm39)	Y318*	probably null	Het
Sytl1	T	C	4: 132,980,876 (GRCm39)	D421G	probably damaging	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tenm3	C	T	8: 48,802,439 (GRCm39)	G374D	probably damaging	Het
Terf2	A	G	8: 107,806,080 (GRCm39)	S291P	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Tnxb	T	C	17: 34,929,951 (GRCm39)	I2895T	possibly damaging	Het
Tsbp1	G	T	17: 34,679,257 (GRCm39)		probably benign	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Uxs1	T	A	1: 43,789,398 (GRCm39)	H419L	possibly damaging	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Zc3h14	A	G	12: 98,751,658 (GRCm39)	H199R	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	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
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
R8715:Zfp976	UTSW	7	42,262,869 (GRCm39)	missense	possibly damaging	0.89
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'- GTTATGATCTTTCCAATTGTACCCT -3'
(R):5'- TGGTTGCTGGCATTTGAACTC -3'

Sequencing Primer
(F):5'- TCTCATTCAAGGTTACACAAGGGC -3'
(R):5'- TGGCATTTGAACTCAGGACC -3'

Posted On

2015-06-10