Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Zfp82'

192326

Institutional Source

Beutler Lab

Gene Symbol

Zfp82

Ensembl Gene

ENSMUSG00000098022

Gene Name

zinc finger protein 82

Synonyms

KRAB16

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29755459-29772248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29756779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 37 (D37G)

Ref Sequence

ENSEMBL: ENSMUSP00000138677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080834] [ENSMUST00000182546] [ENSMUST00000182746] [ENSMUST00000182919] [ENSMUST00000183115] [ENSMUST00000183190]

AlphaFold

Q6P9Y7

Predicted Effect

probably benign
Transcript: ENSMUST00000080834
AA Change: D131G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: D131G

Domain	Start	End	E-Value	Type
KRAB	6	66	8.68e-33	SMART
ZnF_C2H2	168	190	1.1e-2	SMART
ZnF_C2H2	196	218	1.69e-3	SMART
ZnF_C2H2	224	246	1.79e-2	SMART
ZnF_C2H2	252	274	4.24e-4	SMART
ZnF_C2H2	280	300	5.2e0	SMART
ZnF_C2H2	308	330	7.05e-1	SMART
ZnF_C2H2	336	358	1.2e-3	SMART
ZnF_C2H2	364	386	3.63e-3	SMART
ZnF_C2H2	392	414	4.47e-3	SMART
ZnF_C2H2	420	442	1.79e-2	SMART
ZnF_C2H2	448	470	5.5e-3	SMART
ZnF_C2H2	476	498	5.9e-3	SMART
ZnF_C2H2	504	526	1.92e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182483

Predicted Effect

probably benign
Transcript: ENSMUST00000182546
AA Change: D101G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: D101G

Domain	Start	End	E-Value	Type
KRAB	6	62	5.01e-15	SMART
ZnF_C2H2	138	160	1.1e-2	SMART
ZnF_C2H2	166	188	1.69e-3	SMART
ZnF_C2H2	194	216	1.79e-2	SMART
ZnF_C2H2	222	244	4.24e-4	SMART
ZnF_C2H2	250	270	5.2e0	SMART
ZnF_C2H2	278	300	7.05e-1	SMART
ZnF_C2H2	306	328	1.2e-3	SMART
ZnF_C2H2	334	356	3.63e-3	SMART
ZnF_C2H2	362	384	4.47e-3	SMART
ZnF_C2H2	390	412	1.79e-2	SMART
ZnF_C2H2	418	440	5.5e-3	SMART
ZnF_C2H2	446	468	5.9e-3	SMART
ZnF_C2H2	474	496	1.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182746

SMART Domains

Protein: ENSMUSP00000138567
Gene: ENSMUSG00000058447

Domain	Start	End	E-Value	Type
KRAB	6	56	1.44e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183025

Predicted Effect

probably benign
Transcript: ENSMUST00000183115
AA Change: D37G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000183190

SMART Domains

Protein: ENSMUSP00000138469
Gene: ENSMUSG00000098022

Domain	Start	End	E-Value	Type
KRAB	6	66	8.68e-33	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,928 (GRCm39)	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het

Other mutations in Zfp82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Zfp82	APN	7	29,765,755 (GRCm39)	missense	probably damaging	1.00
IGL03030:Zfp82	APN	7	29,756,890 (GRCm39)	missense	probably benign	0.00
G1citation:Zfp82	UTSW	7	29,755,712 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Zfp82	UTSW	7	29,756,701 (GRCm39)	missense	probably damaging	1.00
R0432:Zfp82	UTSW	7	29,755,754 (GRCm39)	missense	probably damaging	1.00
R0513:Zfp82	UTSW	7	29,756,265 (GRCm39)	missense	probably damaging	1.00
R0659:Zfp82	UTSW	7	29,755,754 (GRCm39)	missense	probably damaging	1.00
R0959:Zfp82	UTSW	7	29,755,876 (GRCm39)	missense	probably damaging	1.00
R1510:Zfp82	UTSW	7	29,756,047 (GRCm39)	missense	probably damaging	1.00
R2198:Zfp82	UTSW	7	29,756,936 (GRCm39)	missense	probably benign
R2892:Zfp82	UTSW	7	29,755,864 (GRCm39)	missense	probably damaging	1.00
R4274:Zfp82	UTSW	7	29,755,792 (GRCm39)	missense	probably damaging	0.99
R4932:Zfp82	UTSW	7	29,756,312 (GRCm39)	splice site	probably null
R5377:Zfp82	UTSW	7	29,756,591 (GRCm39)	missense	probably damaging	1.00
R5677:Zfp82	UTSW	7	29,756,549 (GRCm39)	missense	probably benign	0.43
R6822:Zfp82	UTSW	7	29,755,712 (GRCm39)	missense	probably damaging	1.00
R7146:Zfp82	UTSW	7	29,755,592 (GRCm39)	missense	probably benign
R7163:Zfp82	UTSW	7	29,761,669 (GRCm39)	missense	probably benign
R7450:Zfp82	UTSW	7	29,756,320 (GRCm39)	missense	probably damaging	1.00
R7476:Zfp82	UTSW	7	29,755,597 (GRCm39)	missense	possibly damaging	0.69
R7627:Zfp82	UTSW	7	29,756,147 (GRCm39)	missense	probably damaging	1.00
R7631:Zfp82	UTSW	7	29,755,851 (GRCm39)	missense	probably damaging	1.00
R8025:Zfp82	UTSW	7	29,756,278 (GRCm39)	missense	probably damaging	1.00
R8406:Zfp82	UTSW	7	29,761,652 (GRCm39)	critical splice donor site	probably null
R9022:Zfp82	UTSW	7	29,761,714 (GRCm39)	missense	probably damaging	1.00
R9659:Zfp82	UTSW	7	29,755,963 (GRCm39)	missense	probably damaging	1.00
R9788:Zfp82	UTSW	7	29,755,963 (GRCm39)	missense	probably damaging	1.00
Z1186:Zfp82	UTSW	7	29,756,450 (GRCm39)	missense	possibly damaging	0.49
Z1186:Zfp82	UTSW	7	29,756,260 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGACATTAAGCTTCTGATGGCGAG -3'
(R):5'- ACTAAGGATGAGACCAACCAGGTGTTC -3'

Sequencing Primer
(F):5'- ccatcccacactccttacattc -3'
(R):5'- CAACCAGGTGTTCTCAGAAAATG -3'

Posted On

2014-05-14