Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:C87436'

184661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C87436

Ensembl Gene

ENSMUSG00000046679

Gene Name

expressed sequence C87436

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

86415356-86450482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86430677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 366 (M366V)

Ref Sequence

ENSEMBL: ENSMUSP00000109328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050497
AA Change: M376V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: M376V

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	1.1e-22	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113698
AA Change: M366V

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: M366V

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	1e-22	PFAM
low complexity region	278	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113700
AA Change: M376V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: M376V

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	16	57	1.3e-22	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133753
AA Change: M376V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: M376V

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	6.2e-23	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141972
AA Change: M376V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: M376V

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	6.2e-23	PFAM
low complexity region	288	300	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in C87436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:C87436	APN	6	86,434,837 (GRCm39)	missense	probably damaging	1.00
IGL01596:C87436	APN	6	86,423,201 (GRCm39)	missense	probably damaging	1.00
IGL02798:C87436	APN	6	86,423,184 (GRCm39)	missense	probably benign	0.01
R0008:C87436	UTSW	6	86,423,265 (GRCm39)	unclassified	probably benign
R0128:C87436	UTSW	6	86,446,809 (GRCm39)	missense	probably damaging	1.00
R0445:C87436	UTSW	6	86,426,832 (GRCm39)	missense	possibly damaging	0.77
R0970:C87436	UTSW	6	86,424,310 (GRCm39)	missense	probably damaging	0.99
R1125:C87436	UTSW	6	86,424,344 (GRCm39)	missense	probably benign	0.00
R1310:C87436	UTSW	6	86,422,432 (GRCm39)	missense	possibly damaging	0.78
R1640:C87436	UTSW	6	86,423,233 (GRCm39)	missense	probably damaging	0.99
R1764:C87436	UTSW	6	86,430,594 (GRCm39)	missense	possibly damaging	0.92
R2213:C87436	UTSW	6	86,422,455 (GRCm39)	missense	probably benign	0.04
R2275:C87436	UTSW	6	86,422,582 (GRCm39)	missense	probably damaging	1.00
R3947:C87436	UTSW	6	86,423,168 (GRCm39)	missense	probably damaging	1.00
R5416:C87436	UTSW	6	86,442,832 (GRCm39)	missense	probably damaging	1.00
R5604:C87436	UTSW	6	86,424,337 (GRCm39)	missense	probably benign	0.01
R5982:C87436	UTSW	6	86,422,957 (GRCm39)	missense	possibly damaging	0.87
R6171:C87436	UTSW	6	86,422,449 (GRCm39)	missense	probably benign	0.04
R6744:C87436	UTSW	6	86,423,046 (GRCm39)	missense	probably damaging	1.00
R7215:C87436	UTSW	6	86,439,662 (GRCm39)	missense	possibly damaging	0.80
R7253:C87436	UTSW	6	86,442,790 (GRCm39)	missense	probably damaging	1.00
R7876:C87436	UTSW	6	86,423,411 (GRCm39)	splice site	probably null
R8035:C87436	UTSW	6	86,424,337 (GRCm39)	missense	probably benign	0.01
R8312:C87436	UTSW	6	86,434,813 (GRCm39)	missense	probably damaging	1.00
R8919:C87436	UTSW	6	86,422,774 (GRCm39)	missense	probably damaging	1.00
R9091:C87436	UTSW	6	86,442,813 (GRCm39)	missense	probably benign	0.00
R9099:C87436	UTSW	6	86,439,567 (GRCm39)	missense	probably damaging	1.00
R9208:C87436	UTSW	6	86,423,227 (GRCm39)	missense	probably benign	0.16
R9270:C87436	UTSW	6	86,442,813 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07