Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02720:Clptm1l'

304980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02720

Quality Score

Status

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 73614602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022102]

AlphaFold

Q8BXA5

Predicted Effect

probably benign
Transcript: ENSMUST00000022102

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610

Domain	Start	End	E-Value	Type
Pfam:CLPTM1	10	423	3.2e-134	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222343

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,122,703		probably benign	Het
Adgrv1	A	G	13: 81,578,872	S454P	probably damaging	Het
Adh4	A	T	3: 138,419,220	I51F	possibly damaging	Het
Amigo2	A	T	15: 97,245,697	C281*	probably null	Het
Btn2a2	C	T	13: 23,480,467	R307Q	probably benign	Het
C2cd6	T	C	1: 59,051,148	I483M	probably damaging	Het
Capn9	T	C	8: 124,600,497		probably benign	Het
Carmil3	A	G	14: 55,507,410	K1279E	probably damaging	Het
Cdadc1	T	C	14: 59,586,047	Y332C	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cep112	T	G	11: 108,859,351	F893L	probably damaging	Het
Cit	A	G	5: 115,995,452	S1867G	probably benign	Het
Cyp4a12b	A	T	4: 115,435,171		probably benign	Het
Dlx3	G	T	11: 95,123,644	W251L	possibly damaging	Het
Dnah1	C	T	14: 31,262,220	V3993M	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Fam53c	T	A	18: 34,770,667	W331R	probably damaging	Het
Gm5414	T	C	15: 101,625,555	E331G	probably damaging	Het
Gstcd	A	G	3: 133,071,961	V363A	probably benign	Het
Jak1	A	G	4: 101,164,450		probably benign	Het
Kifc3	A	G	8: 95,108,365	V264A	probably benign	Het
Mapk8ip2	A	G	15: 89,457,582	D332G	probably damaging	Het
Nbeal1	G	A	1: 60,283,987	E2075K	probably damaging	Het
Olfr553	C	T	7: 102,614,839	G50E	probably damaging	Het
Opn5	T	G	17: 42,596,626	S120R	probably damaging	Het
Paqr8	C	T	1: 20,935,509	Q296*	probably null	Het
Pcsk6	C	T	7: 65,980,247	R374*	probably null	Het
Pld1	A	G	3: 28,087,262	H469R	probably damaging	Het
Rbl1	A	G	2: 157,199,429	S93P	possibly damaging	Het
Reln	C	T	5: 21,997,941	R1287Q	probably damaging	Het
Rev3l	C	T	10: 39,822,395	R963*	probably null	Het
Serinc4	C	T	2: 121,452,427	S418N	probably benign	Het
Slc6a18	A	G	13: 73,669,968	M310T	probably benign	Het
Slitrk3	T	A	3: 73,050,768	S224C	probably damaging	Het
Slu7	T	C	11: 43,445,203	I471T	probably benign	Het
Stxbp5	A	G	10: 9,789,361		probably null	Het
Tm7sf3	A	T	6: 146,613,374		probably benign	Het
Trem1	C	T	17: 48,232,841	S16L	probably benign	Het
Trp53bp2	T	A	1: 182,453,724	D963E	probably benign	Het
Trp63	A	T	16: 25,863,741	D184V	probably damaging	Het
Ttll6	T	C	11: 96,152,073		probably null	Het
Usp32	A	G	11: 85,006,991		probably null	Het
Vmn2r14	A	T	5: 109,221,439	N89K	probably damaging	Het
Vmn2r76	T	C	7: 86,225,706	R688G	probably benign	Het
Vmn2r93	A	T	17: 18,305,034	H318L	probably damaging	Het
Vstm4	A	G	14: 32,863,617	H47R	probably damaging	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het
Ybx2	T	A	11: 69,940,331	S56T	probably benign	Het
Ybx2	C	A	11: 69,940,332	S251Y	probably benign	Het
Zbtb3	T	C	19: 8,804,214		probably null	Het

Other mutations in Clptm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Clptm1l	APN	13	73607873	splice site	probably null
IGL01963:Clptm1l	APN	13	73617569	splice site	probably benign
IGL02169:Clptm1l	APN	13	73611663	missense	probably damaging	0.96
IGL02554:Clptm1l	APN	13	73607760	missense	probably benign	0.07
IGL02596:Clptm1l	APN	13	73613666	missense	probably benign	0.02
IGL03100:Clptm1l	APN	13	73612390	splice site	probably benign
P0023:Clptm1l	UTSW	13	73604952	missense	possibly damaging	0.67
R0308:Clptm1l	UTSW	13	73611667	missense	possibly damaging	0.67
R0725:Clptm1l	UTSW	13	73606343	missense	probably benign
R1572:Clptm1l	UTSW	13	73607747	missense	probably benign
R1589:Clptm1l	UTSW	13	73614673	critical splice donor site	probably null
R2062:Clptm1l	UTSW	13	73607723	nonsense	probably null
R2064:Clptm1l	UTSW	13	73607723	nonsense	probably null
R2065:Clptm1l	UTSW	13	73607723	nonsense	probably null
R2067:Clptm1l	UTSW	13	73607723	nonsense	probably null
R2068:Clptm1l	UTSW	13	73607723	nonsense	probably null
R3003:Clptm1l	UTSW	13	73617756	missense	possibly damaging	0.51
R3712:Clptm1l	UTSW	13	73616038	missense	probably benign	0.21
R3808:Clptm1l	UTSW	13	73612454	missense	probably benign	0.13
R3966:Clptm1l	UTSW	13	73615972	missense	probably damaging	1.00
R4615:Clptm1l	UTSW	13	73607738	nonsense	probably null
R4801:Clptm1l	UTSW	13	73607862	missense	possibly damaging	0.81
R4802:Clptm1l	UTSW	13	73607862	missense	possibly damaging	0.81
R4957:Clptm1l	UTSW	13	73611196	missense	possibly damaging	0.52
R4957:Clptm1l	UTSW	13	73612428	missense	probably damaging	1.00
R5864:Clptm1l	UTSW	13	73606284	missense	probably damaging	0.99
R6502:Clptm1l	UTSW	13	73617765	critical splice donor site	probably null
R6701:Clptm1l	UTSW	13	73608906	missense	probably benign	0.00
R6720:Clptm1l	UTSW	13	73618516	missense	probably damaging	1.00
R7782:Clptm1l	UTSW	13	73604320	missense	probably damaging	1.00
R8292:Clptm1l	UTSW	13	73617735	missense	probably damaging	0.96
R8329:Clptm1l	UTSW	13	73612428	missense	probably damaging	1.00
R9224:Clptm1l	UTSW	13	73604225	start gained	probably benign

Posted On

2015-04-16