Mutagenetix > Incidental Mutation

Incidental Mutation 'R7631:Zfp82'

589639

Institutional Source

Beutler Lab

Gene Symbol

Zfp82

Ensembl Gene

ENSMUSG00000098022

Gene Name

zinc finger protein 82

Synonyms

KRAB16

MMRRC Submission

045692-MU

Accession Numbers

Essential gene?

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

Stock #

R7631 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29755459-29772248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29755851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 410 (S410R)

Ref Sequence

ENSEMBL: ENSMUSP00000138217 (fasta)

Gene Model

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

AlphaFold

Q6P9Y7

Predicted Effect

probably damaging
Transcript: ENSMUST00000080834
AA Change: S440R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: S440R

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

probably damaging
Transcript: ENSMUST00000182546
AA Change: S410R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: S410R

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

probably benign
Transcript: ENSMUST00000183115

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

87% (46/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	A	6: 34,834,606 (GRCm39)	L930H	possibly damaging	Het
Albfm1	T	C	5: 90,727,531 (GRCm39)	L383S	probably damaging	Het
Alcam	C	T	16: 52,109,276 (GRCm39)		probably null	Het
Ankrd31	A	G	13: 97,015,462 (GRCm39)	H1577R	probably benign	Het
Arfgef1	T	C	1: 10,302,694 (GRCm39)	N9S	probably benign	Het
Cpne9	T	C	6: 113,279,079 (GRCm39)	V491A	possibly damaging	Het
Cyb5d1	A	T	11: 69,285,865 (GRCm39)	L57Q	possibly damaging	Het
Cyp7a1	T	A	4: 6,272,763 (GRCm39)	Q150L	possibly damaging	Het
D430041D05Rik	A	C	2: 103,979,363 (GRCm39)	Y1336*	probably null	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dchs1	T	C	7: 105,408,445 (GRCm39)	T1796A	probably benign	Het
Defa27	T	A	8: 21,805,657 (GRCm39)	D32E	probably benign	Het
Eno2	T	C	6: 124,744,019 (GRCm39)	E96G	probably benign	Het
Fbxw19	T	A	9: 109,311,069 (GRCm39)	Y380F	probably damaging	Het
Fer1l4	A	T	2: 155,890,195 (GRCm39)	N243K	probably damaging	Het
Fndc7	G	A	3: 108,776,568 (GRCm39)	A491V	probably damaging	Het
Gm14305	A	G	2: 176,410,790 (GRCm39)	Q15R	probably benign	Het
Gpr155	T	C	2: 73,213,291 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,624,513 (GRCm39)	H360R	probably damaging	Het
Ifi203	G	A	1: 173,754,688 (GRCm39)	T681I	unknown	Het
Klc2	A	G	19: 5,158,647 (GRCm39)	S616P	probably benign	Het
Lifr	A	G	15: 7,214,258 (GRCm39)	Y704C	probably damaging	Het
Lingo4	A	C	3: 94,306,767 (GRCm39)	D15A	possibly damaging	Het
Lrrc74a	A	T	12: 86,795,884 (GRCm39)	N286Y	probably damaging	Het
Mcm8	A	G	2: 132,669,963 (GRCm39)	T374A	not run	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa25	A	G	5: 121,576,791 (GRCm39)	T847A	possibly damaging	Het
Nrxn2	T	A	19: 6,531,825 (GRCm39)	M763K	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or1p4-ps1	A	C	11: 74,208,357 (GRCm39)	T169P	unknown	Het
Or2r3	T	A	6: 42,448,870 (GRCm39)	M81L	probably benign	Het
Or5m11	A	T	2: 85,782,218 (GRCm39)	E270D	probably benign	Het
Or8c13	A	T	9: 38,092,002 (GRCm39)	V39E	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Pabpc4	T	G	4: 123,182,763 (GRCm39)	D133E	probably damaging	Het
Pcsk5	A	T	19: 17,542,144 (GRCm39)	C816S	probably damaging	Het
Pgm2	A	G	5: 64,265,522 (GRCm39)	T408A	possibly damaging	Het
Polr2m	G	C	9: 71,390,757 (GRCm39)	Y148*	probably null	Het
Reln	T	C	5: 22,176,933 (GRCm39)	N1911S	probably damaging	Het
Scaf4	T	C	16: 90,026,445 (GRCm39)	D1124G	unknown	Het
Scgb1b19	C	T	7: 32,986,784 (GRCm39)	T18I	probably damaging	Het
Septin12	T	A	16: 4,814,320 (GRCm39)	I50F	probably damaging	Het
Slc25a20	T	A	9: 108,539,491 (GRCm39)	M22K	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smchd1	A	G	17: 71,705,684 (GRCm39)	F972L	probably benign	Het
Spem1	T	C	11: 69,712,409 (GRCm39)	Y85C	probably benign	Het
Strip1	C	T	3: 107,524,247 (GRCm39)	V557I	possibly damaging	Het
Tcirg1	G	T	19: 3,947,160 (GRCm39)	Q634K	probably damaging	Het
Tma7	T	A	9: 108,911,507 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,299,414 (GRCm39)	L35P	probably damaging	Het
Trpc6	A	G	9: 8,626,702 (GRCm39)	T351A	probably benign	Het
Tubb2a	A	G	13: 34,259,227 (GRCm39)	S188P	probably damaging	Het
Ubr5	C	A	15: 38,029,751 (GRCm39)	L485F		Het
Vmn1r71	A	T	7: 10,482,378 (GRCm39)	S103R	probably damaging	Het
Vmn2r40	C	T	7: 8,911,119 (GRCm39)	D725N		Het
Zfp473	T	C	7: 44,383,128 (GRCm39)	R402G	possibly damaging	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
R1697:Zfp82	UTSW	7	29,756,779 (GRCm39)	missense	probably benign
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
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'- GGTGAGAATGTTGTCTAAAGGCC -3'
(R):5'- TGTCGTCGACAGACTGTACG -3'

Sequencing Primer
(F):5'- CACCAGAATGGATTCTCAGATGTTGG -3'
(R):5'- CGTTTAGAGTTCGACAGCAGCTAAC -3'

Posted On

2019-10-24