Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01672:AI314180'

103531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AI314180

Ensembl Gene

ENSMUSG00000050812

Gene Name

expressed sequence AI314180

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

58798911-58912749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58814041 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1355 (V1355A)

Ref Sequence

ENSEMBL: ENSMUSP00000099953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102889] [ENSMUST00000149301]

Predicted Effect

probably benign
Transcript: ENSMUST00000102889
AA Change: V1355A

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

SMART Domains

Protein: ENSMUSP00000099953
Gene: ENSMUSG00000050812
AA Change: V1355A

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	1.1e-155	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
SCOP:d1qbkb_	693	1491	3e-31	SMART
low complexity region	1781	1797	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131611

Predicted Effect

probably benign
Transcript: ENSMUST00000149301
AA Change: V1355A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117585
Gene: ENSMUSG00000050812
AA Change: V1355A

Domain	Start	End	E-Value	Type
Pfam:Ecm29	10	517	4e-163	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
SCOP:d1qbkb_	693	1490	8e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149513

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,641,357	E203G	probably damaging	Het
Ano1	G	T	7: 144,655,675	Q206K	probably damaging	Het
Ap4e1	T	A	2: 127,052,189	S620T	probably damaging	Het
Arfip1	A	T	3: 84,548,032		probably benign	Het
Atp8a2	A	T	14: 59,691,533	M1024K	probably benign	Het
Brap	T	C	5: 121,678,845		probably benign	Het
Calcrl	T	A	2: 84,345,070	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,607,873		probably null	Het
Cpb1	T	A	3: 20,275,421	Q47L	probably null	Het
Cse1l	T	C	2: 166,929,967	I402T	probably damaging	Het
Dnah17	A	G	11: 118,042,160	S3591P	probably damaging	Het
Dst	T	G	1: 34,225,693	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884	R2194*	probably null	Het
Eno4	A	G	19: 58,943,545	N30S	possibly damaging	Het
Ero1l	A	C	14: 45,292,430	S349A	probably benign	Het
Fat1	C	T	8: 45,040,700	T3938I	probably benign	Het
Focad	T	C	4: 88,360,590		probably null	Het
Gnai3	A	T	3: 108,109,459	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,557	V221A	probably benign	Het
Gpr153	C	A	4: 152,279,913	S142*	probably null	Het
Itpr1	C	A	6: 108,381,032	Y557*	probably null	Het
Nat8f5	A	G	6: 85,817,952	Y9H	probably damaging	Het
Nbas	T	C	12: 13,379,649	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,675,407	V1047A	possibly damaging	Het
Olfr330	A	C	11: 58,529,122	L288R	probably benign	Het
Olfr491	T	A	7: 108,317,518	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,766,824	T178I	probably damaging	Het
Palld	T	A	8: 61,877,502	I114F	probably benign	Het
Pcca	A	T	14: 122,690,145	Y440F	probably benign	Het
Pclo	T	C	5: 14,678,535		probably benign	Het
Piwil1	T	C	5: 128,749,973	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,080,732	Y189F	possibly damaging	Het
Plscr3	A	G	11: 69,847,682	K91R	possibly damaging	Het
Rars	A	T	11: 35,808,553	C638S	probably damaging	Het
Relb	T	A	7: 19,611,694	H406L	probably benign	Het
Ros1	G	T	10: 52,101,803	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,270,169	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,751,934	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,185,175	M1931K	probably benign	Het
Sphk2	T	C	7: 45,711,653	D309G	possibly damaging	Het
Stil	T	C	4: 115,032,789	S825P	probably damaging	Het
Swt1	C	T	1: 151,394,608		probably null	Het
Virma	C	T	4: 11,527,792	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,508,502	H362Q	probably benign	Het
Zfp451	C	A	1: 33,762,166	M1056I	probably benign	Het
Zfp458	T	A	13: 67,257,236	M380L	probably benign	Het

Other mutations in AI314180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:AI314180	APN	4	58828047	missense	possibly damaging	0.95
IGL01145:AI314180	APN	4	58811501	missense	probably null	0.08
IGL01371:AI314180	APN	4	58809718	missense	probably damaging	1.00
IGL01445:AI314180	APN	4	58833988	missense	probably benign	0.08
IGL01452:AI314180	APN	4	58836181	missense	probably damaging	0.99
IGL01626:AI314180	APN	4	58832814	splice site	probably benign
IGL01943:AI314180	APN	4	58849937	missense	possibly damaging	0.91
IGL01944:AI314180	APN	4	58861544	missense	probably benign	0.42
IGL02190:AI314180	APN	4	58800190	missense	probably benign	0.12
IGL02272:AI314180	APN	4	58811731	missense	probably benign	0.00
IGL02435:AI314180	APN	4	58830325	splice site	probably benign
IGL02516:AI314180	APN	4	58877102	missense	probably damaging	1.00
IGL02540:AI314180	APN	4	58805534	splice site	probably benign
IGL02709:AI314180	APN	4	58872699	missense	possibly damaging	0.90
IGL02742:AI314180	APN	4	58840757	missense	probably damaging	0.96
IGL02812:AI314180	APN	4	58864343	splice site	probably benign
IGL02828:AI314180	APN	4	58875512	missense	possibly damaging	0.59
IGL03130:AI314180	APN	4	58800288	missense	probably benign
IGL03179:AI314180	APN	4	58832777	missense	probably damaging	1.00
IGL03237:AI314180	APN	4	58810668	missense	probably benign	0.40
IGL03344:AI314180	APN	4	58828538	missense	probably damaging	1.00
R0051:AI314180	UTSW	4	58832729	missense	probably damaging	1.00
R0051:AI314180	UTSW	4	58832729	missense	probably damaging	1.00
R0313:AI314180	UTSW	4	58811892	missense	probably benign	0.11
R0399:AI314180	UTSW	4	58827047	missense	possibly damaging	0.69
R0487:AI314180	UTSW	4	58819155	missense	probably damaging	1.00
R0492:AI314180	UTSW	4	58864418	missense	probably damaging	1.00
R0705:AI314180	UTSW	4	58885366	critical splice donor site	probably null
R0847:AI314180	UTSW	4	58841439	missense	probably benign	0.14
R1467:AI314180	UTSW	4	58832753	missense	probably benign
R1467:AI314180	UTSW	4	58832753	missense	probably benign
R1482:AI314180	UTSW	4	58820163	missense	possibly damaging	0.85
R1529:AI314180	UTSW	4	58832701	splice site	probably null
R1771:AI314180	UTSW	4	58879100	missense	probably damaging	1.00
R1776:AI314180	UTSW	4	58879100	missense	probably damaging	1.00
R1822:AI314180	UTSW	4	58805539	critical splice donor site	probably null
R1864:AI314180	UTSW	4	58849942	missense	possibly damaging	0.62
R2029:AI314180	UTSW	4	58844165	nonsense	probably null
R2061:AI314180	UTSW	4	58824270	missense	probably damaging	1.00
R2125:AI314180	UTSW	4	58833978	missense	probably benign
R2266:AI314180	UTSW	4	58830332	critical splice donor site	probably null
R2889:AI314180	UTSW	4	58836165	missense	probably benign
R2902:AI314180	UTSW	4	58809691	missense	probably benign	0.31
R2903:AI314180	UTSW	4	58828622	missense	possibly damaging	0.50
R2925:AI314180	UTSW	4	58833928	nonsense	probably null
R4151:AI314180	UTSW	4	58836254	missense	possibly damaging	0.51
R4225:AI314180	UTSW	4	58847027	missense	probably damaging	1.00
R4486:AI314180	UTSW	4	58820086	intron	probably benign
R4576:AI314180	UTSW	4	58834708	intron	probably benign
R4580:AI314180	UTSW	4	58840751	missense	probably damaging	1.00
R4654:AI314180	UTSW	4	58834523	missense	possibly damaging	0.86
R4688:AI314180	UTSW	4	58840757	missense	probably damaging	0.96
R4726:AI314180	UTSW	4	58844191	missense	probably damaging	1.00
R4825:AI314180	UTSW	4	58850911	missense	probably damaging	0.99
R4928:AI314180	UTSW	4	58827073	missense	probably damaging	1.00
R5098:AI314180	UTSW	4	58877048	missense	probably damaging	1.00
R5284:AI314180	UTSW	4	58836172	missense	possibly damaging	0.90
R5375:AI314180	UTSW	4	58809401	nonsense	probably null
R5382:AI314180	UTSW	4	58850934	missense	probably benign	0.38
R5487:AI314180	UTSW	4	58809421	missense	probably benign	0.22
R5703:AI314180	UTSW	4	58877171	splice site	probably null
R5761:AI314180	UTSW	4	58853131	missense	probably damaging	1.00
R5791:AI314180	UTSW	4	58814027	missense	possibly damaging	0.90
R5791:AI314180	UTSW	4	58822111	missense	probably damaging	1.00
R5928:AI314180	UTSW	4	58849948	missense	possibly damaging	0.59
R6062:AI314180	UTSW	4	58826453	missense	possibly damaging	0.84
R6246:AI314180	UTSW	4	58811365	splice site	probably null
R6298:AI314180	UTSW	4	58877157	missense	probably damaging	1.00
R6326:AI314180	UTSW	4	58827068	missense	probably benign	0.34
R6478:AI314180	UTSW	4	58810785	missense	probably damaging	1.00
R6707:AI314180	UTSW	4	58879101	missense	possibly damaging	0.52
R6846:AI314180	UTSW	4	58814081	missense	possibly damaging	0.85
R6857:AI314180	UTSW	4	58814065	missense	probably damaging	1.00
R6951:AI314180	UTSW	4	58853114	critical splice donor site	probably null
R7088:AI314180	UTSW	4	58849766	missense	possibly damaging	0.93
R7302:AI314180	UTSW	4	58834593	missense	probably benign	0.43
R7337:AI314180	UTSW	4	58827047	missense	possibly damaging	0.69
R7341:AI314180	UTSW	4	58809415	missense	possibly damaging	0.94
R7344:AI314180	UTSW	4	58824770	missense	probably benign	0.08
R7525:AI314180	UTSW	4	58847038	missense	possibly damaging	0.84
R7530:AI314180	UTSW	4	58815317	missense	probably damaging	0.99
R7533:AI314180	UTSW	4	58809411	missense	probably benign	0.12
R7557:AI314180	UTSW	4	58849691	missense	possibly damaging	0.85
R7698:AI314180	UTSW	4	58832660	missense	unknown
X0060:AI314180	UTSW	4	58840752	missense	possibly damaging	0.73

Posted On

2014-01-21