Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Zfp691'

302449

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp691

Ensembl Gene

ENSMUSG00000045268

Gene Name

zinc finger protein 691

Synonyms

6430544H17Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

119026710-119031392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119027704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 176 (F176S)

Ref Sequence

ENSEMBL: ENSMUSP00000136119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052715] [ENSMUST00000106355] [ENSMUST00000138395] [ENSMUST00000154226] [ENSMUST00000179290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052715
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053013
Gene: ENSMUSG00000045268
AA Change: F176S

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	4.54e-4	SMART
ZnF_C2H2	111	133	5.99e-4	SMART
ZnF_C2H2	139	161	3.89e-3	SMART
ZnF_C2H2	167	189	3.95e-4	SMART
ZnF_C2H2	195	217	4.72e-2	SMART
ZnF_C2H2	223	245	2.4e-3	SMART
ZnF_C2H2	251	273	1.6e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106355
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101962
Gene: ENSMUSG00000045268
AA Change: F176S

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	4.54e-4	SMART
ZnF_C2H2	111	133	5.99e-4	SMART
ZnF_C2H2	139	161	3.89e-3	SMART
ZnF_C2H2	167	189	3.95e-4	SMART
ZnF_C2H2	195	217	4.72e-2	SMART
ZnF_C2H2	223	245	2.4e-3	SMART
ZnF_C2H2	251	273	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138395

SMART Domains

Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644

Domain	Start	End	E-Value	Type
IGv	68	151	9.26e-8	SMART
transmembrane domain	272	294	N/A	INTRINSIC
coiled coil region	304	342	N/A	INTRINSIC
PRY	354	406	1.15e-27	SMART
SPRY	407	532	3.25e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154226

Predicted Effect

probably damaging
Transcript: ENSMUST00000179290
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136119
Gene: ENSMUSG00000045268
AA Change: F176S

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	4.54e-4	SMART
ZnF_C2H2	111	133	5.99e-4	SMART
ZnF_C2H2	139	161	3.89e-3	SMART
ZnF_C2H2	167	189	3.95e-4	SMART
ZnF_C2H2	195	217	4.72e-2	SMART
ZnF_C2H2	223	245	2.4e-3	SMART
ZnF_C2H2	251	273	1.6e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,386 (GRCm39)	Y946F	probably benign	Het
Abcb4	T	G	5: 8,984,240 (GRCm39)	W657G	probably benign	Het
Adcy1	T	C	11: 7,088,279 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,124,047 (GRCm39)	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,153,201 (GRCm39)	Y89S	probably benign	Het
Carns1	C	T	19: 4,223,083 (GRCm39)	C47Y	probably benign	Het
Chd5	C	T	4: 152,445,050 (GRCm39)	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,957,807 (GRCm39)	T481A	probably benign	Het
Cyth1	T	A	11: 118,073,072 (GRCm39)	D264V	probably damaging	Het
Dph1	C	A	11: 75,071,461 (GRCm39)	L311F	probably benign	Het
Eif3l	A	G	15: 78,961,142 (GRCm39)	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,976,146 (GRCm39)	F3Y	probably benign	Het
Hcn4	A	T	9: 58,766,748 (GRCm39)	T770S	unknown	Het
Hydin	A	T	8: 111,139,908 (GRCm39)	I726F	possibly damaging	Het
Klf2	A	G	8: 73,072,940 (GRCm39)	I7V	probably benign	Het
Ltn1	A	T	16: 87,212,662 (GRCm39)	L633H	probably damaging	Het
Ncoa3	A	G	2: 165,893,313 (GRCm39)	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,149,138 (GRCm39)	D248E	probably benign	Het
Nyap1	A	G	5: 137,733,746 (GRCm39)	I429T	probably damaging	Het
Or1j10	T	A	2: 36,267,072 (GRCm39)	C95S	probably damaging	Het
Or2p2	G	A	13: 21,256,982 (GRCm39)	T163I	probably damaging	Het
Or2t6	T	A	14: 14,175,732 (GRCm38)	M117L	possibly damaging	Het
Or51g1	A	G	7: 102,633,537 (GRCm39)	M278T	probably benign	Het
Or8s16	A	G	15: 98,211,237 (GRCm39)	S65P	probably damaging	Het
Pcf11	T	C	7: 92,296,254 (GRCm39)	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,792,689 (GRCm39)	F217I	probably benign	Het
Plxna4	A	T	6: 32,162,346 (GRCm39)	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,091 (GRCm39)	Y239C	probably benign	Het
Psma6	A	G	12: 55,458,996 (GRCm39)	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,551,141 (GRCm39)	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,663,240 (GRCm39)	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992 (GRCm39)	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,765,613 (GRCm39)	N345I	probably benign	Het
Sncaip	T	C	18: 53,028,027 (GRCm39)	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,178,530 (GRCm39)	I864N	probably damaging	Het
Spag5	C	T	11: 78,212,157 (GRCm39)	Q1062*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Szrd1	A	G	4: 140,867,057 (GRCm39)		probably benign	Het
Tns2	C	A	15: 102,016,231 (GRCm39)		probably benign	Het
Trcg1	C	A	9: 57,149,511 (GRCm39)	S361*	probably null	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,280,090 (GRCm39)	V124A	probably damaging	Het
Ttf1	T	C	2: 28,964,023 (GRCm39)	I633T	probably damaging	Het

Other mutations in Zfp691

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02440:Zfp691	APN	4	119,027,493 (GRCm39)	missense	probably damaging	0.96
IGL02850:Zfp691	APN	4	119,027,389 (GRCm39)	missense	probably damaging	0.96
R0417:Zfp691	UTSW	4	119,027,693 (GRCm39)	missense	possibly damaging	0.67
R4822:Zfp691	UTSW	4	119,027,764 (GRCm39)	missense	probably damaging	1.00
R4923:Zfp691	UTSW	4	119,027,999 (GRCm39)	missense	probably benign
R7619:Zfp691	UTSW	4	119,028,181 (GRCm39)	missense	probably damaging	0.98
R8738:Zfp691	UTSW	4	119,027,861 (GRCm39)	missense	probably damaging	1.00
R8841:Zfp691	UTSW	4	119,027,861 (GRCm39)	missense	probably damaging	0.99
R9574:Zfp691	UTSW	4	119,028,230 (GRCm39)	start codon destroyed	possibly damaging	0.85
RF007:Zfp691	UTSW	4	119,027,932 (GRCm39)	missense	probably benign	0.08

Posted On

2015-04-16