Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:C87436'

73783

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: 0.369) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

86438374-86473500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86457855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 395 (F395S)

Ref Sequence

ENSEMBL: ENSMUSP00000109330 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050497
AA Change: F395S

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

SMART Domains

Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: F395S

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 damaging
Transcript: ENSMUST00000113698
AA Change: F385S

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

SMART Domains

Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: F385S

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 damaging
Transcript: ENSMUST00000113700
AA Change: F395S

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

SMART Domains

Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: F395S

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

SMART Domains

Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679

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

SMART Domains

Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	probably damaging	Het

Other mutations in C87436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:C87436	APN	6	86446219	missense	probably damaging	1.00
IGL02039:C87436	APN	6	86453695	missense	probably benign	0.40
IGL02798:C87436	APN	6	86446202	missense	probably benign	0.01
R0008:C87436	UTSW	6	86446283	unclassified	probably benign
R0128:C87436	UTSW	6	86469827	missense	probably damaging	1.00
R0445:C87436	UTSW	6	86449850	missense	possibly damaging	0.77
R0970:C87436	UTSW	6	86447328	missense	probably damaging	0.99
R1125:C87436	UTSW	6	86447362	missense	probably benign	0.00
R1310:C87436	UTSW	6	86445450	missense	possibly damaging	0.78
R1640:C87436	UTSW	6	86446251	missense	probably damaging	0.99
R1764:C87436	UTSW	6	86453612	missense	possibly damaging	0.92
R2213:C87436	UTSW	6	86445473	missense	probably benign	0.04
R2275:C87436	UTSW	6	86445600	missense	probably damaging	1.00
R3947:C87436	UTSW	6	86446186	missense	probably damaging	1.00
R5416:C87436	UTSW	6	86465850	missense	probably damaging	1.00
R5604:C87436	UTSW	6	86447355	missense	probably benign	0.01
R5982:C87436	UTSW	6	86445975	missense	possibly damaging	0.87
R6171:C87436	UTSW	6	86445467	missense	probably benign	0.04
R6744:C87436	UTSW	6	86446064	missense	probably damaging	1.00
R7215:C87436	UTSW	6	86462680	missense	possibly damaging	0.80
R7253:C87436	UTSW	6	86465808	missense	probably damaging	1.00
R7876:C87436	UTSW	6	86446429	splice site	probably null
R8035:C87436	UTSW	6	86447355	missense	probably benign	0.01
R8312:C87436	UTSW	6	86457831	missense	probably damaging	1.00
R8919:C87436	UTSW	6	86445792	missense	probably damaging	1.00
R9091:C87436	UTSW	6	86465831	missense	probably benign	0.00
R9099:C87436	UTSW	6	86462585	missense	probably damaging	1.00
R9208:C87436	UTSW	6	86446245	missense	probably benign	0.16
R9270:C87436	UTSW	6	86465831	missense	probably benign	0.00

Posted On

2013-10-07