Mutagenetix > Incidental Mutation

Incidental Mutation 'R8047:Zfp764'

618818

Institutional Source

Beutler Lab

Gene Symbol

Zfp764

Ensembl Gene

ENSMUSG00000045757

Gene Name

zinc finger protein 764

Synonyms

8030466O12Rik

MMRRC Submission

067484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127002840-127005994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127005412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 75 (E75G)

Ref Sequence

ENSEMBL: ENSMUSP00000052944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059199]

AlphaFold

E9QAP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059199
AA Change: E75G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052944
Gene: ENSMUSG00000045757
AA Change: E75G

Domain	Start	End	E-Value	Type
KRAB	22	82	7.33e-31	SMART
low complexity region	102	115	N/A	INTRINSIC
ZnF_C2H2	152	174	4.47e-3	SMART
ZnF_C2H2	180	202	1.47e-3	SMART
ZnF_C2H2	208	230	4.3e-5	SMART
ZnF_C2H2	236	258	6.78e-3	SMART
ZnF_C2H2	264	286	1.47e-3	SMART
ZnF_C2H2	292	315	1.45e-2	SMART
ZnF_C2H2	321	343	6.52e-5	SMART
ZnF_C2H2	349	371	6.67e-2	SMART
ZnF_C2H2	377	399	1.67e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,427,817 (GRCm39)	T157I	possibly damaging	Het
Cd200l2	T	C	16: 45,340,829 (GRCm39)	I245V	probably benign	Het
Cdh22	G	A	2: 165,012,687 (GRCm39)	R133W	probably damaging	Het
Cep152	A	T	2: 125,406,247 (GRCm39)	N1428K	probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Coch	G	A	12: 51,650,496 (GRCm39)		probably null	Het
D6Ertd527e	G	T	6: 87,088,454 (GRCm39)	V206F	unknown	Het
Dnaaf9	A	T	2: 130,617,019 (GRCm39)	V439E	probably damaging	Het
Dock3	T	C	9: 106,870,208 (GRCm39)	I625M	possibly damaging	Het
Dpy19l4	A	G	4: 11,317,139 (GRCm39)	S20P	probably benign	Het
Eef1e1	T	C	13: 38,830,222 (GRCm39)	Q150R	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Engase	T	C	11: 118,377,282 (GRCm39)	S526P	probably benign	Het
Fbxo40	T	A	16: 36,790,231 (GRCm39)	D293V	probably damaging	Het
Gipc3	T	A	10: 81,177,132 (GRCm39)	N146I	probably damaging	Het
Gm11569	T	C	11: 99,689,616 (GRCm39)	T28A	unknown	Het
Gm43302	T	C	5: 105,422,623 (GRCm39)	I470V	possibly damaging	Het
Gpihbp1	A	G	15: 75,469,627 (GRCm39)	Q114R	possibly damaging	Het
Grhl2	T	A	15: 37,336,465 (GRCm39)	M454K	probably benign	Het
Gsap	A	T	5: 21,462,866 (GRCm39)		probably null	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Kif1b	C	A	4: 149,299,379 (GRCm39)	V1010L	probably damaging	Het
Krt8	A	T	15: 101,912,406 (GRCm39)	I90N	probably damaging	Het
Lrrc69	A	T	4: 14,773,726 (GRCm39)	I110N	probably benign	Het
Lta	T	C	17: 35,423,011 (GRCm39)	Y104C	probably damaging	Het
Madd	A	G	2: 91,009,546 (GRCm39)	Y13H	probably damaging	Het
Mccc2	C	T	13: 100,091,181 (GRCm39)	V439I	probably benign	Het
Mecom	T	A	3: 30,292,404 (GRCm39)	D35V		Het
Msra	C	T	14: 64,522,612 (GRCm39)	A76T	probably damaging	Het
Myo18b	G	T	5: 112,871,681 (GRCm39)	D2133E	possibly damaging	Het
Ncapd2	C	T	6: 125,166,762 (GRCm39)	V31M	probably damaging	Het
Npc1	A	G	18: 12,346,374 (GRCm39)	V274A	probably benign	Het
Or5m11b	T	C	2: 85,806,271 (GRCm39)	I228T	possibly damaging	Het
Patz1	C	T	11: 3,256,283 (GRCm39)	P523L	probably benign	Het
Pbx2	T	C	17: 34,814,262 (GRCm39)	S350P	probably benign	Het
Plk4	T	C	3: 40,760,187 (GRCm39)	I361T	probably benign	Het
Ppat	G	T	5: 77,073,557 (GRCm39)	N122K	probably damaging	Het
Prss23	T	A	7: 89,159,136 (GRCm39)	Q311L	probably damaging	Het
Psg26	G	T	7: 18,212,474 (GRCm39)	Q294K	possibly damaging	Het
Rab3il1	G	T	19: 10,011,166 (GRCm39)	R285L	probably benign	Het
Radil	A	G	5: 142,480,695 (GRCm39)	C587R	probably damaging	Het
Rd3	A	T	1: 191,709,620 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,927,221 (GRCm39)	L504P	probably damaging	Het
Rmc1	C	T	18: 12,313,586 (GRCm39)	T233M	possibly damaging	Het
Selenov	A	C	7: 27,990,108 (GRCm39)	L132R	probably benign	Het
Spag16	A	T	1: 69,882,155 (GRCm39)	D49V	probably damaging	Het
Ston2	C	T	12: 91,608,617 (GRCm39)	V828I	probably damaging	Het
Tiam1	A	G	16: 89,694,672 (GRCm39)	S262P	probably benign	Het
Tlnrd1	A	T	7: 83,532,069 (GRCm39)	S121T	probably damaging	Het
Unc13c	T	A	9: 73,719,636 (GRCm39)	K1011*	probably null	Het
Vmn2r89	T	A	14: 51,692,549 (GRCm39)	D117E	probably benign	Het
Zbtb7c	A	C	18: 76,270,221 (GRCm39)	N103T	probably damaging	Het

Other mutations in Zfp764

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Zfp764	APN	7	127,004,376 (GRCm39)	missense	possibly damaging	0.93
PIT4514001:Zfp764	UTSW	7	127,003,913 (GRCm39)	missense	probably benign	0.26
R0528:Zfp764	UTSW	7	127,004,051 (GRCm39)	missense	possibly damaging	0.92
R0619:Zfp764	UTSW	7	127,005,713 (GRCm39)	missense	probably benign	0.08
R1183:Zfp764	UTSW	7	127,005,419 (GRCm39)	missense	probably damaging	1.00
R1770:Zfp764	UTSW	7	127,004,739 (GRCm39)	nonsense	probably null
R1878:Zfp764	UTSW	7	127,004,214 (GRCm39)	missense	probably benign	0.04
R1885:Zfp764	UTSW	7	127,004,211 (GRCm39)	missense	probably benign
R2181:Zfp764	UTSW	7	127,005,671 (GRCm39)	missense	probably damaging	1.00
R4780:Zfp764	UTSW	7	127,003,943 (GRCm39)	missense	probably benign	0.13
R5242:Zfp764	UTSW	7	127,004,541 (GRCm39)	missense	probably benign
R5493:Zfp764	UTSW	7	127,004,105 (GRCm39)	missense	probably benign	0.00
R7109:Zfp764	UTSW	7	127,003,887 (GRCm39)	missense	possibly damaging	0.92
R7214:Zfp764	UTSW	7	127,004,450 (GRCm39)	missense	probably benign	0.05
R8748:Zfp764	UTSW	7	127,003,862 (GRCm39)	missense	possibly damaging	0.92
R9131:Zfp764	UTSW	7	127,005,719 (GRCm39)	nonsense	probably null
R9187:Zfp764	UTSW	7	127,004,608 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATGAATCCAGGAGCCAG -3'
(R):5'- TCTCGGTGAGAACCTTCCTG -3'

Sequencing Primer
(F):5'- GCTTTGGCCAGGAAACAGC -3'
(R):5'- TGAGAACCTTCCTGGCCGC -3'

Posted On

2020-01-23