Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Clptm1l'

218383

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0725 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73604006-73620605 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73606343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 129 (T129A)

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

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

AlphaFold

Q8BXA5

Predicted Effect

probably benign
Transcript: ENSMUST00000022102
AA Change: T129A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: T129A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	T	9: 8,027,143	D131E	probably damaging	Het
Asph	C	T	4: 9,542,275	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,351,387	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,098,526		probably benign	Het
Ccnk	T	C	12: 108,195,575		probably benign	Het
Cep55	T	C	19: 38,060,174	S93P	possibly damaging	Het
Cfh	A	G	1: 140,157,343		probably benign	Het
Cntnap5a	A	G	1: 116,292,476	E672G	probably benign	Het
Cpped1	C	A	16: 11,828,450	W170L	probably damaging	Het
Crygb	T	C	1: 65,081,941	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,994,936	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,626,827	D395G	probably damaging	Het
Dll4	T	C	2: 119,332,689	V597A	probably damaging	Het
Dock7	T	C	4: 98,945,291	D1891G	probably damaging	Het
Dsel	T	C	1: 111,859,952	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497	V3603F	possibly damaging	Het
Fam109a	T	A	5: 121,853,251	H225Q	probably benign	Het
Fam129a	A	G	1: 151,706,015	E454G	probably benign	Het
Fam167b	C	A	4: 129,578,285	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,704,673	I25N	probably damaging	Het
Gzf1	C	T	2: 148,684,649	R347*	probably null	Het
Heatr5b	T	A	17: 78,796,396	I1117F	probably benign	Het
Kntc1	T	C	5: 123,769,704	V456A	possibly damaging	Het
Macc1	C	A	12: 119,447,516	S673*	probably null	Het
Mpp4	T	C	1: 59,121,422	E574G	probably damaging	Het
Muc20	C	T	16: 32,793,488	M506I	probably benign	Het
Ncbp1	A	G	4: 46,152,056	T218A	probably benign	Het
Nfxl1	A	T	5: 72,559,130	V46E	probably benign	Het
Nfyc	G	T	4: 120,768,734		probably benign	Het
Olfr561	T	A	7: 102,774,532	S3T	probably benign	Het
Olfr972	A	T	9: 39,873,347	Q24L	probably damaging	Het
Osbpl8	T	C	10: 111,286,240	F681S	possibly damaging	Het
Pcm1	G	C	8: 41,287,811	E1031D	probably damaging	Het
Pdcd11	A	G	19: 47,127,291	E1486G	probably benign	Het
Pex12	G	T	11: 83,298,034	A45E	probably damaging	Het
Pigm	A	G	1: 172,376,817	D40G	probably damaging	Het
Pkp1	G	T	1: 135,880,740	N496K	probably benign	Het
Psmc4	T	C	7: 28,048,862	I54V	probably benign	Het
Rbm33	T	C	5: 28,394,483	V951A	unknown	Het
Selenbp2	G	T	3: 94,697,502		probably benign	Het
Slc3a1	G	A	17: 85,060,835	W510*	probably null	Het
Stx12	A	C	4: 132,857,390		probably benign	Het
Tas2r125	G	T	6: 132,910,122	D158Y	probably benign	Het
Tchp	C	A	5: 114,719,621	Q392K	probably benign	Het
Tmed11	T	A	5: 108,778,989	D139V	probably damaging	Het
Ttn	C	T	2: 76,748,310	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,951,525	G4967D	probably damaging	Het
Vezf1	T	C	11: 88,073,330	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,430,842	S248P	probably damaging	Het
Yipf2	G	C	9: 21,592,223		probably null	Het
Zfp110	A	T	7: 12,836,363	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,714,213	C623S	probably damaging	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
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
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
R9528:Clptm1l	UTSW	13	73612431	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AGTCACAAGGCAGGTGGGTTTC -3'
(R):5'- ACGCTGAAGAATAACTGCCCTTCC -3'

Sequencing Primer
(F):5'- gctggggcaggaagaac -3'
(R):5'- AGTCTGCCTAGAGTGCTATGAATC -3'

Posted On

2014-08-01