Mutagenetix > Incidental Mutations

Incidental Mutation 'R5377:Zfp82'

425611

Institutional Source

Beutler Lab

Gene Symbol

Zfp82

Ensembl Gene

ENSMUSG00000098022

Gene Name

zinc finger protein 82

Synonyms

KRAB16

MMRRC Submission

042845-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30054489-30072900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30057166 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 164 (K164E)

Ref Sequence

ENSEMBL: ENSMUSP00000138217 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080834
AA Change: K194E

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

SMART Domains

Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: K194E

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: K164E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: K164E

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: ENSMUST00000183190

SMART Domains

Protein: ENSMUSP00000138469
Gene: ENSMUSG00000098022

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,645,253	V372F	probably benign	Het
Adcy10	G	A	1: 165,519,895	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,730,306	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,321,511		probably benign	Het
Akr1a1	A	T	4: 116,639,895	V156E	probably damaging	Het
Alk	T	G	17: 71,895,739	D1167A	probably damaging	Het
Ankrd11	T	C	8: 122,893,714		probably null	Het
Aspm	T	A	1: 139,457,483	N288K	probably damaging	Het
Aspm	A	G	1: 139,470,395		probably null	Het
Asxl2	G	A	12: 3,474,618		probably null	Het
Atp6v0a1	A	G	11: 101,055,587	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,171,822	T531A	possibly damaging	Het
Ccdc114	C	T	7: 45,942,082	R257*	probably null	Het
Cecr2	A	G	6: 120,756,569	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,759,865	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,675,616	I413F	probably null	Het
Defb12	C	A	8: 19,114,326		probably null	Het
Dnah2	T	C	11: 69,421,848	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,791,513	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,903,189	T207N	probably benign	Het
Esrrb	C	T	12: 86,519,009	Q416*	probably null	Het
Exd2	T	C	12: 80,489,448	L284P	probably damaging	Het
Fat3	T	A	9: 16,376,443	I595F	probably benign	Het
Gm9920	A	G	15: 55,108,975		probably benign	Het
Hephl1	T	C	9: 15,069,788	K783E	probably damaging	Het
Irs2	A	G	8: 11,005,277	S1052P	probably benign	Het
Kctd18	T	C	1: 57,963,093	I192V	probably benign	Het
Lama3	A	G	18: 12,453,746	D722G	probably damaging	Het
Lepr	T	C	4: 101,815,019	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,563,655	G504S	probably damaging	Het
Lrit2	A	C	14: 37,069,183	Q273P	possibly damaging	Het
Mgea5	A	T	19: 45,758,022	Y779*	probably null	Het
Mlkl	T	A	8: 111,327,937	E189D	probably benign	Het
Mttp	C	T	3: 138,105,029	R608H	probably benign	Het
Nav2	T	C	7: 49,589,160	V2011A	probably benign	Het
Nos2	A	T	11: 78,957,491	I1075F	probably benign	Het
Npat	A	G	9: 53,550,036		probably null	Het
Nucks1	T	C	1: 131,919,033	F16L	probably damaging	Het
Nus1	T	C	10: 52,429,213	S150P	possibly damaging	Het
Olfr1230	G	T	2: 89,297,162	T36K	probably damaging	Het
Olfr881	A	T	9: 37,992,612	Y40F	probably benign	Het
Pclo	A	G	5: 14,681,353	T3290A	unknown	Het
Pign	A	T	1: 105,657,812	F4Y	probably benign	Het
Rfx4	A	G	10: 84,860,542	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,160,195	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf11	T	A	15: 96,417,120	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,518,637	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,283,128	L426I	probably damaging	Het
Slc17a2	T	C	13: 23,812,592	S27P	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Tacc1	A	G	8: 25,182,283	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084	R110C	probably damaging	Het
Trip12	T	C	1: 84,757,431	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,842,855		probably null	Het
Ush2a	G	A	1: 188,912,123	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,187,631	V140I	probably benign	Het
Vmn2r66	A	T	7: 85,006,818	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,379,269	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,272,221	V172G	probably benign	Het
Zfhx3	C	T	8: 108,951,185	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,982,251	L283P	possibly damaging	Het

Other mutations in Zfp82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Zfp82	APN	7	30066330	missense	probably damaging	1.00
IGL03030:Zfp82	APN	7	30057465	missense	probably benign	0.00
PIT4142001:Zfp82	UTSW	7	30057276	missense	probably damaging	1.00
R0432:Zfp82	UTSW	7	30056329	missense	probably damaging	1.00
R0513:Zfp82	UTSW	7	30056840	missense	probably damaging	1.00
R0659:Zfp82	UTSW	7	30056329	missense	probably damaging	1.00
R0959:Zfp82	UTSW	7	30056451	missense	probably damaging	1.00
R1510:Zfp82	UTSW	7	30056622	missense	probably damaging	1.00
R1697:Zfp82	UTSW	7	30057354	missense	probably benign
R2198:Zfp82	UTSW	7	30057511	missense	probably benign
R2892:Zfp82	UTSW	7	30056439	missense	probably damaging	1.00
R4274:Zfp82	UTSW	7	30056367	missense	probably damaging	0.99
R4932:Zfp82	UTSW	7	30056887	splice site	probably null
R5677:Zfp82	UTSW	7	30057124	missense	probably benign	0.43
R6822:Zfp82	UTSW	7	30056287	missense	probably damaging	1.00
R7146:Zfp82	UTSW	7	30056167	missense	probably benign
R7163:Zfp82	UTSW	7	30062244	missense	probably benign
R7450:Zfp82	UTSW	7	30056895	missense	probably damaging	1.00
R7476:Zfp82	UTSW	7	30056172	missense	possibly damaging	0.69
R7627:Zfp82	UTSW	7	30056722	missense	probably damaging	1.00
R7631:Zfp82	UTSW	7	30056426	missense	probably damaging	1.00
R8025:Zfp82	UTSW	7	30056853	missense	probably damaging	1.00
R8406:Zfp82	UTSW	7	30062227	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCTTCTGATGGCGAGTGAG -3'
(R):5'- ATCTCAGTCAAGTGAGGCAC -3'

Sequencing Primer
(F):5'- CCCAGTATGGATCCTCTGATGGAG -3'
(R):5'- GGCACACATCTGAAAGAGTGTCC -3'

Posted On

2016-08-04