Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Zfp82'

61784

Institutional Source

Beutler Lab

Gene Symbol

Zfp82

Ensembl Gene

ENSMUSG00000098022

Gene Name

zinc finger protein 82

Synonyms

KRAB16

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

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

Stock #

R0659 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

29755459-29772248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29755754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 443 (E443K)

Ref Sequence

ENSEMBL: ENSMUSP00000138217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080834] [ENSMUST00000182546] [ENSMUST00000182746] [ENSMUST00000182919] [ENSMUST00000183115] [ENSMUST00000207873] [ENSMUST00000207072] [ENSMUST00000183190]

AlphaFold

Q6P9Y7

Predicted Effect

probably damaging
Transcript: ENSMUST00000080834
AA Change: E473K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: E473K

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 damaging
Transcript: ENSMUST00000182546
AA Change: E443K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: E443K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207873

Predicted Effect

probably benign
Transcript: ENSMUST00000207072

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

0.2913

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Cep78	C	T	19: 15,933,554 (GRCm39)	V675M	probably damaging	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Chpf	A	G	1: 75,454,367 (GRCm39)	V137A	probably damaging	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cth	A	G	3: 157,625,752 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Lin28a	T	C	4: 133,735,410 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Sult1c2	A	T	17: 54,138,806 (GRCm39)	M257K	probably damaging	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	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
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
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'- GGAGACGGCTAAGACTTTGTCACAC -3'
(R):5'- CCTCACTCGCCATCAGAAGCTTAATG -3'

Sequencing Primer
(F):5'- GTCACACTTTGACAGTATGAACC -3'
(R):5'- cttatttcgcatcagagcatcc -3'

Posted On

2013-07-30