Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01963:Clptm1l'

182477

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 #

IGL01963

Quality Score

Status

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 73617569 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	G	A	14: 4,350,856	G130D	probably damaging	Het
Abca8b	T	A	11: 109,971,763	D392V	probably damaging	Het
Creb3l1	G	A	2: 91,993,333	T178I	probably benign	Het
Ctsd	A	G	7: 142,376,599		probably null	Het
Dcstamp	A	T	15: 39,760,359	I401F	possibly damaging	Het
Dnah5	A	G	15: 28,370,536	D2874G	probably benign	Het
Fgfr1op	A	T	17: 8,192,277	D354V	probably damaging	Het
Fli1	T	A	9: 32,424,207	K310*	probably null	Het
Fndc4	C	T	5: 31,295,212		probably null	Het
Fuk	A	G	8: 110,893,402	F281S	probably damaging	Het
Gc	G	A	5: 89,422,122		probably benign	Het
Krtap26-1	A	G	16: 88,647,668	C22R	probably damaging	Het
Obscn	C	T	11: 59,020,541	G6422S	probably benign	Het
Olfr1444	T	A	19: 12,862,382	F202L	probably benign	Het
Olfr418	T	A	1: 173,270,352	M59K	probably damaging	Het
Olfr975	C	A	9: 39,950,240	C177F	probably damaging	Het
Pgr	C	T	9: 8,922,668	P613L	probably damaging	Het
Pnpla8	C	A	12: 44,296,033	A524E	possibly damaging	Het
Psma2	A	T	13: 14,619,363	I105F	probably damaging	Het
Ptprg	A	G	14: 12,220,661	R458G	probably damaging	Het
Rbm44	A	G	1: 91,163,108	I755V	probably benign	Het
Rev3l	A	G	10: 39,822,737	K1077E	possibly damaging	Het
Rps20	A	C	4: 3,834,494		probably benign	Het
Sel1l3	A	C	5: 53,200,338	V104G	probably damaging	Het
Sirpb1c	T	C	3: 15,838,773	N89S	probably benign	Het
Slc25a16	G	A	10: 62,930,441		probably null	Het
Sulf1	C	T	1: 12,818,507	R339C	probably damaging	Het
Tedc2	C	T	17: 24,217,952	A270T	probably benign	Het
Trem3	T	C	17: 48,247,852	S2P	possibly damaging	Het
Vps37a	G	T	8: 40,540,730	Q255H	probably damaging	Het
Zfp352	C	T	4: 90,224,154	A177V	possibly damaging	Het

Other mutations in Clptm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Clptm1l	APN	13	73607873	splice site	probably null
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
IGL02720:Clptm1l	APN	13	73614602	splice site	probably benign
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

2014-05-07