Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Zfp65'

646700

Institutional Source

Beutler Lab

Gene Symbol

Zfp65

Ensembl Gene

ENSMUSG00000071281

Gene Name

zinc finger protein 65

Synonyms

KRAB5, Zfp71-rs1

MMRRC Submission

067744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67853428-67877238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67857037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 81 (Y81D)

Ref Sequence

ENSEMBL: ENSMUSP00000072900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073157] [ENSMUST00000127979] [ENSMUST00000130891] [ENSMUST00000223829]

AlphaFold

Q91W94

Predicted Effect

probably damaging
Transcript: ENSMUST00000073157
AA Change: Y81D

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

SMART Domains

Protein: ENSMUSP00000072900
Gene: ENSMUSG00000071281
AA Change: Y81D

Domain	Start	End	E-Value	Type
KRAB	5	65	9.17e-32	SMART
ZnF_C2H2	81	101	1.05e1	SMART
ZnF_C2H2	109	131	8.4e1	SMART
ZnF_C2H2	137	159	3.58e-2	SMART
ZnF_C2H2	165	187	5.99e-4	SMART
ZnF_C2H2	193	215	1.56e-2	SMART
ZnF_C2H2	221	243	1.95e-3	SMART
ZnF_C2H2	249	271	4.79e-3	SMART
ZnF_C2H2	277	299	3.63e-3	SMART
ZnF_C2H2	305	327	8.22e-2	SMART
ZnF_C2H2	333	355	5.9e-3	SMART
ZnF_C2H2	361	383	2.57e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127979
AA Change: Y78D

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

SMART Domains

Protein: ENSMUSP00000117218
Gene: ENSMUSG00000071281
AA Change: Y78D

Domain	Start	End	E-Value	Type
KRAB	2	62	9.17e-32	SMART
ZnF_C2H2	78	98	1.05e1	SMART
ZnF_C2H2	106	128	8.4e1	SMART
ZnF_C2H2	134	156	3.58e-2	SMART
ZnF_C2H2	162	184	5.99e-4	SMART
ZnF_C2H2	190	212	1.56e-2	SMART
ZnF_C2H2	218	240	1.95e-3	SMART
ZnF_C2H2	246	268	4.79e-3	SMART
ZnF_C2H2	274	296	3.63e-3	SMART
ZnF_C2H2	302	324	8.22e-2	SMART
ZnF_C2H2	330	352	5.9e-3	SMART
ZnF_C2H2	358	380	2.57e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123380
Gene: ENSMUSG00000071281
AA Change: Y91D

Domain	Start	End	E-Value	Type
KRAB	15	75	9.17e-32	SMART
ZnF_C2H2	91	111	1.05e1	SMART
ZnF_C2H2	119	141	8.4e1	SMART
ZnF_C2H2	147	169	3.58e-2	SMART
ZnF_C2H2	175	197	5.99e-4	SMART
ZnF_C2H2	203	225	1.56e-2	SMART
ZnF_C2H2	231	253	1.95e-3	SMART
ZnF_C2H2	259	281	4.79e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223829
AA Change: Y81D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	C	8: 25,409,936 (GRCm39)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,610,520 (GRCm39)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atp12a	G	T	14: 56,612,083 (GRCm39)		probably null	Het
Birc6	C	T	17: 74,896,635 (GRCm39)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,888,414 (GRCm39)	N67K	probably benign	Het
Cachd1	G	A	4: 100,832,073 (GRCm39)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,354,665 (GRCm39)	Q238*	probably null	Het
Cdc42	G	A	4: 137,056,205 (GRCm39)	T102I	probably benign	Het
Cfhr1	A	C	1: 139,475,549 (GRCm39)	C307W	unknown	Het
Ddb1	G	A	19: 10,596,669 (GRCm39)	V463M	probably damaging	Het
Dhx30	G	A	9: 109,917,707 (GRCm39)	R365C	probably benign	Het
Dnah1	A	G	14: 31,023,303 (GRCm39)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,672,653 (GRCm39)	V144A	probably benign	Het
Enpp2	T	A	15: 54,773,491 (GRCm39)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,063,519 (GRCm39)	V317I	possibly damaging	Het
Gc	G	A	5: 89,586,118 (GRCm39)	Q341*	probably null	Het
Gpt2	A	T	8: 86,219,694 (GRCm39)	I47F	probably benign	Het
Ino80	A	T	2: 119,272,968 (GRCm39)	S503T	probably benign	Het
Kcnn4	C	A	7: 24,077,051 (GRCm39)	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,534,753 (GRCm39)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,112,018 (GRCm39)	V630A	probably benign	Het
Man2a2	C	T	7: 80,010,671 (GRCm39)	W773*	probably null	Het
Mgrn1	T	A	16: 4,733,630 (GRCm39)	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,121,478 (GRCm39)	V52A	probably benign	Het
Myc	A	T	15: 61,859,395 (GRCm39)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,551,076 (GRCm39)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,023,592 (GRCm39)	N493D	probably damaging	Het
Or52w1	C	A	7: 105,017,847 (GRCm39)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,052,661 (GRCm39)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,518,684 (GRCm39)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,426,947 (GRCm39)	I703V	possibly damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,944,071 (GRCm39)	S36P	probably damaging	Het
Plk5	T	C	10: 80,196,179 (GRCm39)	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,821,638 (GRCm39)	E99D	probably benign	Het
Rnf4	C	T	5: 34,508,701 (GRCm39)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scel	A	G	14: 103,809,451 (GRCm39)	S264G	probably benign	Het
Sdk1	A	G	5: 142,144,376 (GRCm39)	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,718,115 (GRCm39)	Y255H	probably benign	Het
Syne1	C	T	10: 4,993,615 (GRCm39)	G525D	probably benign	Het
Taldo1	T	C	7: 140,981,788 (GRCm39)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,853 (GRCm39)	T428A	probably damaging	Het
Tlr6	T	C	5: 65,112,455 (GRCm39)	K151E	probably benign	Het
Ubr2	T	A	17: 47,253,721 (GRCm39)	D1468V	probably benign	Het
Ubtf	A	C	11: 102,199,737 (GRCm39)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,314,697 (GRCm39)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,149,869 (GRCm39)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,525,230 (GRCm39)	V296D	probably damaging	Het
Zw10	A	T	9: 48,988,783 (GRCm39)	Y683F	possibly damaging	Het

Other mutations in Zfp65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02094:Zfp65	APN	13	67,856,304 (GRCm39)	missense	possibly damaging	0.92
IGL02563:Zfp65	APN	13	67,856,184 (GRCm39)	missense	possibly damaging	0.88
R2142:Zfp65	UTSW	13	67,856,311 (GRCm39)	missense	probably damaging	1.00
R2169:Zfp65	UTSW	13	67,858,499 (GRCm39)	missense	probably damaging	1.00
R4702:Zfp65	UTSW	13	67,872,341 (GRCm39)	start codon destroyed	probably null	0.98
R4770:Zfp65	UTSW	13	67,856,477 (GRCm39)	missense	probably damaging	1.00
R4836:Zfp65	UTSW	13	67,856,994 (GRCm39)	missense	probably benign	0.15
R4943:Zfp65	UTSW	13	67,859,099 (GRCm39)	missense	probably damaging	0.99
R5229:Zfp65	UTSW	13	67,856,929 (GRCm39)	missense	probably benign	0.02
R6178:Zfp65	UTSW	13	67,858,437 (GRCm39)	missense	probably benign	0.21
R6786:Zfp65	UTSW	13	67,856,130 (GRCm39)	missense	probably damaging	1.00
R6991:Zfp65	UTSW	13	67,856,640 (GRCm39)	missense	probably damaging	0.97
R7896:Zfp65	UTSW	13	67,877,174 (GRCm39)	splice site	probably null
R9762:Zfp65	UTSW	13	67,856,478 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGTAAGGTTTCCCTCCTGTATG -3'
(R):5'- ACTAATGCTCTTCTTTCACTGGAAG -3'

Sequencing Primer
(F):5'- GTAAGGTTTCCCTCCTGTATGAATTC -3'
(R):5'- CACTGGAAGGTGACATGATTTTCAC -3'

Posted On

2020-09-02