Mutagenetix > Incidental Mutation

Incidental Mutation 'R5864:Clptm1l'

454087

Institutional Source

Beutler Lab

Gene Symbol

Clptm1l

Ensembl Gene

ENSMUSG00000021610

Gene Name

CLPTM1-like

Synonyms

C130052I12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73752125-73768724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73754403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 109 (F109S)

Ref Sequence

ENSEMBL: ENSMUSP00000022102 (fasta)

Gene Model

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

AlphaFold

Q8BXA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022102
AA Change: F109S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022102
Gene: ENSMUSG00000021610
AA Change: F109S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	T	12: 84,090,178 (GRCm39)	I292F	probably benign	Het
Adamdec1	A	G	14: 68,807,551 (GRCm39)	S370P	probably damaging	Het
Ankar	T	C	1: 72,698,324 (GRCm39)	K692R	probably benign	Het
Ano6	T	C	15: 95,818,261 (GRCm39)		probably null	Het
Asns	G	A	6: 7,675,443 (GRCm39)	Q520*	probably null	Het
Bbs12	C	T	3: 37,373,639 (GRCm39)	T144I	probably damaging	Het
C8g	C	T	2: 25,388,955 (GRCm39)	G186D	probably damaging	Het
Coa8	G	A	12: 111,717,652 (GRCm39)	V171I	probably benign	Het
Col4a1	G	A	8: 11,252,973 (GRCm39)		probably benign	Het
Cpn2	T	C	16: 30,078,501 (GRCm39)	D400G	probably damaging	Het
Dgke	G	C	11: 88,941,288 (GRCm39)	Y298*	probably null	Het
Dnah5	G	A	15: 28,297,159 (GRCm39)	R1451Q	possibly damaging	Het
Dock8	A	G	19: 25,038,584 (GRCm39)	D90G	probably damaging	Het
Dok7	A	C	5: 35,223,890 (GRCm39)	D143A	probably damaging	Het
Elk3	G	A	10: 93,120,653 (GRCm39)	A62V	probably damaging	Het
Epha2	T	A	4: 141,035,738 (GRCm39)	M58K	probably damaging	Het
Erp27	G	T	6: 136,885,098 (GRCm39)	D233E	probably benign	Het
Gm5174	T	A	10: 86,493,045 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,107 (GRCm39)	D214G	probably damaging	Het
Hrob	G	A	11: 102,145,972 (GRCm39)	E83K	probably benign	Het
Ifi35	A	T	11: 101,349,069 (GRCm39)	I238F	probably damaging	Het
Ighmbp2	T	C	19: 3,311,467 (GRCm39)	T983A	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Lrp1	C	A	10: 127,403,374 (GRCm39)	K2066N	possibly damaging	Het
Mansc1	T	G	6: 134,587,816 (GRCm39)		probably null	Het
Mapre3	T	C	5: 31,020,582 (GRCm39)	F101S	probably damaging	Het
Mettl8	T	C	2: 70,812,357 (GRCm39)	T58A	probably benign	Het
Mical1	G	T	10: 41,362,064 (GRCm39)	R857L	possibly damaging	Het
Nacad	T	C	11: 6,550,581 (GRCm39)	D870G	probably benign	Het
Nectin1	A	G	9: 43,702,607 (GRCm39)	D118G	probably damaging	Het
Nlrp2	A	T	7: 5,325,380 (GRCm39)	L26Q	probably damaging	Het
Or10a3m	A	G	7: 108,312,671 (GRCm39)	D25G	probably benign	Het
Pamr1	T	C	2: 102,464,693 (GRCm39)	S281P	possibly damaging	Het
Pcdhgc5	T	A	18: 37,954,814 (GRCm39)	V696E	probably damaging	Het
Pde4d	G	T	13: 110,074,582 (GRCm39)	A396S	probably benign	Het
Pecam1	G	T	11: 106,575,076 (GRCm39)	C510*	probably null	Het
Pga5	C	T	19: 10,652,513 (GRCm39)	G76S	probably damaging	Het
Phldb3	A	T	7: 24,323,571 (GRCm39)	H435L	possibly damaging	Het
Piezo1	T	C	8: 123,213,112 (GRCm39)	R1884G	possibly damaging	Het
Ripk4	T	C	16: 97,564,782 (GRCm39)	H43R	probably damaging	Het
Rtn3	A	G	19: 7,412,476 (GRCm39)	V785A	probably damaging	Het
Safb2	A	G	17: 56,873,491 (GRCm39)		probably benign	Het
Sephs1	T	C	2: 4,910,393 (GRCm39)	F288L	probably damaging	Het
Sez6l	A	G	5: 112,586,266 (GRCm39)		probably null	Het
Siglece	A	G	7: 43,308,741 (GRCm39)	L204P	probably damaging	Het
Sis	T	C	3: 72,857,151 (GRCm39)	D380G	probably damaging	Het
Slamf9	G	T	1: 172,304,033 (GRCm39)	R126L	probably benign	Het
Sorl1	A	G	9: 42,003,669 (GRCm39)	L209P	probably damaging	Het
Sptbn1	A	C	11: 30,095,925 (GRCm39)	I310S	probably damaging	Het
Tex52	A	G	6: 128,356,645 (GRCm39)	T113A	probably benign	Het
Trav6-3	T	A	14: 53,667,628 (GRCm39)	Y33*	probably null	Het
Vmn2r102	A	G	17: 19,914,943 (GRCm39)	E836G	possibly damaging	Het
Wdsub1	C	T	2: 59,708,819 (GRCm39)	C18Y	probably damaging	Het
Zfp341	C	A	2: 154,485,474 (GRCm39)	H637N	possibly damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zfp612	G	A	8: 110,816,358 (GRCm39)	D522N	probably damaging	Het

Other mutations in Clptm1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Clptm1l	APN	13	73,755,992 (GRCm39)	splice site	probably null
IGL01963:Clptm1l	APN	13	73,765,688 (GRCm39)	splice site	probably benign
IGL02169:Clptm1l	APN	13	73,759,782 (GRCm39)	missense	probably damaging	0.96
IGL02554:Clptm1l	APN	13	73,755,879 (GRCm39)	missense	probably benign	0.07
IGL02596:Clptm1l	APN	13	73,761,785 (GRCm39)	missense	probably benign	0.02
IGL02720:Clptm1l	APN	13	73,762,721 (GRCm39)	splice site	probably benign
IGL03100:Clptm1l	APN	13	73,760,509 (GRCm39)	splice site	probably benign
P0023:Clptm1l	UTSW	13	73,753,071 (GRCm39)	missense	possibly damaging	0.67
R0308:Clptm1l	UTSW	13	73,759,786 (GRCm39)	missense	possibly damaging	0.67
R0725:Clptm1l	UTSW	13	73,754,462 (GRCm39)	missense	probably benign
R1572:Clptm1l	UTSW	13	73,755,866 (GRCm39)	missense	probably benign
R1589:Clptm1l	UTSW	13	73,762,792 (GRCm39)	critical splice donor site	probably null
R2062:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2064:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2065:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2067:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R2068:Clptm1l	UTSW	13	73,755,842 (GRCm39)	nonsense	probably null
R3003:Clptm1l	UTSW	13	73,765,875 (GRCm39)	missense	possibly damaging	0.51
R3712:Clptm1l	UTSW	13	73,764,157 (GRCm39)	missense	probably benign	0.21
R3808:Clptm1l	UTSW	13	73,760,573 (GRCm39)	missense	probably benign	0.13
R3966:Clptm1l	UTSW	13	73,764,091 (GRCm39)	missense	probably damaging	1.00
R4615:Clptm1l	UTSW	13	73,755,857 (GRCm39)	nonsense	probably null
R4801:Clptm1l	UTSW	13	73,755,981 (GRCm39)	missense	possibly damaging	0.81
R4802:Clptm1l	UTSW	13	73,755,981 (GRCm39)	missense	possibly damaging	0.81
R4957:Clptm1l	UTSW	13	73,760,547 (GRCm39)	missense	probably damaging	1.00
R4957:Clptm1l	UTSW	13	73,759,315 (GRCm39)	missense	possibly damaging	0.52
R6502:Clptm1l	UTSW	13	73,765,884 (GRCm39)	critical splice donor site	probably null
R6701:Clptm1l	UTSW	13	73,757,025 (GRCm39)	missense	probably benign	0.00
R6720:Clptm1l	UTSW	13	73,766,635 (GRCm39)	missense	probably damaging	1.00
R7782:Clptm1l	UTSW	13	73,752,439 (GRCm39)	missense	probably damaging	1.00
R8292:Clptm1l	UTSW	13	73,765,854 (GRCm39)	missense	probably damaging	0.96
R8329:Clptm1l	UTSW	13	73,760,547 (GRCm39)	missense	probably damaging	1.00
R9224:Clptm1l	UTSW	13	73,752,344 (GRCm39)	start gained	probably benign
R9528:Clptm1l	UTSW	13	73,760,550 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TCACAAGGCAGGTGGGTTTC -3'
(R):5'- AGCTGACATTAGAAGACATGCAC -3'

Sequencing Primer
(F):5'- TTAATCCCAGCTCCTTGGGAAG -3'
(R):5'- TTAGAAGACATGCACATAAACTCTG -3'

Posted On

2017-02-10