Mutagenetix > Incidental Mutation

Incidental Mutation 'R7109:Zfp764'

551394

Institutional Source

Beutler Lab

Gene Symbol

Zfp764

Ensembl Gene

ENSMUSG00000045757

Gene Name

zinc finger protein 764

Synonyms

8030466O12Rik

MMRRC Submission

045201-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7109 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127002840-127005994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127003887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 415 (S415P)

Ref Sequence

ENSEMBL: ENSMUSP00000052944 (fasta)

Gene Model

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

AlphaFold

E9QAP1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059199
AA Change: S415P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052944
Gene: ENSMUSG00000045757
AA Change: S415P

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	G	2: 151,315,673 (GRCm39)	K2Q	probably damaging	Het
Abtb2	T	C	2: 103,545,860 (GRCm39)	Y903H	probably benign	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Alcam	T	A	16: 52,097,192 (GRCm39)	T355S	probably damaging	Het
Anapc1	A	G	2: 128,516,522 (GRCm39)	V404A	probably benign	Het
Bst2	A	G	8: 71,989,926 (GRCm39)	F49S	possibly damaging	Het
C1qtnf9	G	C	14: 61,017,019 (GRCm39)	W183S	probably benign	Het
Camsap3	A	G	8: 3,648,087 (GRCm39)	I132V	possibly damaging	Het
Cchcr1	T	A	17: 35,828,838 (GRCm39)		probably null	Het
Cenpk	A	G	13: 104,367,256 (GRCm39)	K31E	probably benign	Het
Cfap221	T	C	1: 119,853,301 (GRCm39)	K798E	possibly damaging	Het
Copb2	T	A	9: 98,463,333 (GRCm39)		probably null	Het
Dennd1a	T	A	2: 37,938,804 (GRCm39)	Y102F	probably damaging	Het
Eif2ak4	C	T	2: 118,235,532 (GRCm39)	P88S	probably damaging	Het
Epha6	C	A	16: 59,503,031 (GRCm39)	V959F	probably damaging	Het
Fam193a	C	A	5: 34,623,165 (GRCm39)	T1251K	possibly damaging	Het
Herc1	A	T	9: 66,389,171 (GRCm39)	Q3896L	probably benign	Het
Ikbip	C	A	10: 90,919,090 (GRCm39)	D34E	probably benign	Het
Insr	A	G	8: 3,308,481 (GRCm39)	V185A	probably benign	Het
Jakmip1	C	T	5: 37,332,109 (GRCm39)	Q930*	probably null	Het
Klc1	A	G	12: 111,743,299 (GRCm39)	I209V	probably benign	Het
Lrrk2	T	A	15: 91,648,985 (GRCm39)	L1660M	probably damaging	Het
Mbd3l1	G	T	9: 18,396,210 (GRCm39)	D112Y	possibly damaging	Het
Mrps2	T	A	2: 28,358,258 (GRCm39)	V16E	probably benign	Het
Ncoa1	G	A	12: 4,372,978 (GRCm39)	T141I	possibly damaging	Het
Ndst2	G	T	14: 20,779,911 (GRCm39)	R110S	probably damaging	Het
Nlrp2	A	G	7: 5,331,616 (GRCm39)	V260A	probably damaging	Het
Or4d10	A	G	19: 12,051,576 (GRCm39)	I140T	probably benign	Het
Or51a6	A	T	7: 102,604,460 (GRCm39)	V116E	probably damaging	Het
Or5p1	A	G	7: 107,916,959 (GRCm39)	N286S	probably damaging	Het
Or7g16	A	T	9: 18,726,904 (GRCm39)	S229T	probably benign	Het
Pah	T	C	10: 87,406,148 (GRCm39)	V262A	probably damaging	Het
Pcnt	T	G	10: 76,205,738 (GRCm39)	E2538A	probably damaging	Het
Pdxk	T	A	10: 78,282,810 (GRCm39)	I162F	probably damaging	Het
Plod2	T	C	9: 92,455,650 (GRCm39)	F110L	probably damaging	Het
Pm20d2	A	T	4: 33,187,186 (GRCm39)	L154Q	probably damaging	Het
Podxl2	C	T	6: 88,820,566 (GRCm39)	V445I	possibly damaging	Het
Ppp1r3a	A	T	6: 14,719,235 (GRCm39)	W560R	probably benign	Het
Rasal3	A	G	17: 32,611,683 (GRCm39)	S815P	probably damaging	Het
Rdm1	A	G	11: 101,524,654 (GRCm39)	K196E	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,181,286 (GRCm39)	D79G	possibly damaging	Het
Slc22a21	A	G	11: 53,870,329 (GRCm39)	Y119H	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Synrg	C	A	11: 83,930,498 (GRCm39)	A1280E	possibly damaging	Het
Szt2	A	G	4: 118,232,676 (GRCm39)	C2396R	unknown	Het
Trappc3	A	G	4: 126,167,726 (GRCm39)	N95S	probably benign	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Ush2a	T	A	1: 188,113,681 (GRCm39)	D633E	probably benign	Het
Wasl	G	A	6: 24,633,186 (GRCm39)	P151S	probably benign	Het
Wwp2	A	G	8: 108,209,988 (GRCm39)	N122S	probably benign	Het
Zfp51	A	G	17: 21,683,831 (GRCm39)	R149G	possibly 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
R7214:Zfp764	UTSW	7	127,004,450 (GRCm39)	missense	probably benign	0.05
R8047:Zfp764	UTSW	7	127,005,412 (GRCm39)	missense	probably damaging	1.00
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'- TGACTTCCGGAAGATGACATAG -3'
(R):5'- CATGCGCATCCATACAGGTG -3'

Sequencing Primer
(F):5'- GATGACATAGGTTCAACCCTCTGG -3'
(R):5'- GGTGAAAAGCCTTATTCATGCCCTG -3'

Posted On

2019-05-15