Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Zfp975'

661384

Institutional Source

Beutler Lab

Gene Symbol

Zfp975

Ensembl Gene

ENSMUSG00000069727

Gene Name

zinc finger protein 975

Synonyms

Gm5595

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42660105-42692742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42662840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 116 (S116R)

Ref Sequence

ENSEMBL: ENSMUSP00000103626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107992]

AlphaFold

Q6NVD6

Predicted Effect

probably benign
Transcript: ENSMUST00000107992
AA Change: S116R

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103626
Gene: ENSMUSG00000069727
AA Change: S116R

Domain	Start	End	E-Value	Type
KRAB	4	66	1.53e-19	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	9.73e-4	SMART
ZnF_C2H2	187	209	1.47e-3	SMART
ZnF_C2H2	215	237	3.89e-3	SMART
ZnF_C2H2	243	265	2.57e-3	SMART
ZnF_C2H2	271	293	7.26e-3	SMART
ZnF_C2H2	299	321	1.58e-3	SMART
ZnF_C2H2	327	349	7.9e-4	SMART
ZnF_C2H2	355	377	5.9e-3	SMART
ZnF_C2H2	383	405	1.58e-3	SMART
ZnF_C2H2	411	433	6.32e-3	SMART
ZnF_C2H2	439	461	8.47e-4	SMART
ZnF_C2H2	467	489	2.57e-3	SMART
ZnF_C2H2	495	517	3.16e-3	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het

Other mutations in Zfp975

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Zfp975	APN	7	42662791	missense	probably damaging	1.00
R0194:Zfp975	UTSW	7	42662492	missense	probably benign	0.02
R0662:Zfp975	UTSW	7	42662526	missense	probably benign	0.02
R1491:Zfp975	UTSW	7	42662812	missense	probably benign	0.19
R1573:Zfp975	UTSW	7	42662083	missense	probably benign	0.03
R1738:Zfp975	UTSW	7	42662949	missense	probably benign	0.05
R1833:Zfp975	UTSW	7	42661839	missense	probably benign	0.01
R2185:Zfp975	UTSW	7	42661681	missense	possibly damaging	0.90
R4031:Zfp975	UTSW	7	42662953	nonsense	probably null
R4090:Zfp975	UTSW	7	42662874	missense	probably benign	0.10
R4356:Zfp975	UTSW	7	42661827	missense	probably damaging	1.00
R4631:Zfp975	UTSW	7	42662945	missense	probably benign	0.09
R4795:Zfp975	UTSW	7	42665146	critical splice acceptor site	probably null
R4896:Zfp975	UTSW	7	42662292	missense	probably damaging	1.00
R5266:Zfp975	UTSW	7	42662230	missense	probably damaging	1.00
R5267:Zfp975	UTSW	7	42662230	missense	probably damaging	1.00
R5580:Zfp975	UTSW	7	42665089	nonsense	probably null
R5874:Zfp975	UTSW	7	42662888	missense	probably benign	0.00
R5898:Zfp975	UTSW	7	42662539	missense	probably damaging	1.00
R6529:Zfp975	UTSW	7	42661901	missense	possibly damaging	0.79
R6782:Zfp975	UTSW	7	42662030	missense	probably benign	0.41
R6937:Zfp975	UTSW	7	42665056	missense	possibly damaging	0.61
R7088:Zfp975	UTSW	7	42662672	missense	probably benign	0.02
R7233:Zfp975	UTSW	7	42662494	missense	probably benign	0.38
R7253:Zfp975	UTSW	7	42661612	makesense	probably null
R7358:Zfp975	UTSW	7	42662791	missense	probably damaging	1.00
R7659:Zfp975	UTSW	7	42662424	missense	probably benign	0.00
R7999:Zfp975	UTSW	7	42662932	missense	probably benign	0.02
R8957:Zfp975	UTSW	7	42661733	missense	probably damaging	1.00
R9274:Zfp975	UTSW	7	42662875	missense	probably benign	0.02
R9326:Zfp975	UTSW	7	42662413	nonsense	probably null
R9536:Zfp975	UTSW	7	42662921	missense	probably benign	0.11
R9569:Zfp975	UTSW	7	42661989	missense	probably benign	0.00
R9717:Zfp975	UTSW	7	42662908	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GATTACATTGGTAAGGTTTCTCTCC -3'
(R):5'- ATGTCCCAATTATCATTGCAGGC -3'

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

Posted On

2021-03-08