Mutagenetix > Incidental Mutations

Incidental Mutation 'R6474:Clptm1'

516727

Institutional Source

Beutler Lab

Gene Symbol

Clptm1

Ensembl Gene

ENSMUSG00000002981

Gene Name

cleft lip and palate associated transmembrane protein 1

Synonyms

N14, HS9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R6474 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19631571-19665033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19635837 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 383 (N383D)

Ref Sequence

ENSEMBL: ENSMUSP00000051293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055242]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055242
AA Change: N383D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: N383D

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
low complexity region	35	52	N/A	INTRINSIC
Pfam:CLPTM1	56	497	5.8e-148	PFAM
transmembrane domain	507	529	N/A	INTRINSIC
low complexity region	606	628	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208868

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,461,715	N90Y	probably damaging	Het
Alkal1	T	C	1: 6,389,446	V82A	probably damaging	Het
Ascc3	T	C	10: 50,748,836	S1607P	probably benign	Het
Ccny	A	T	18: 9,345,427	L149H	probably damaging	Het
Clrn2	T	A	5: 45,463,732	M156K	probably benign	Het
Coro2b	T	A	9: 62,426,628	H328L	probably benign	Het
Echs1	A	T	7: 140,108,142	M250K	probably benign	Het
Ecsit	A	G	9: 22,074,685	V145A	possibly damaging	Het
Fas	G	A	19: 34,316,569	G108D	probably damaging	Het
Folh1	A	G	7: 86,775,756	W2R	probably damaging	Het
Gba	C	T	3: 89,204,081	P51L	probably benign	Het
Grik2	C	T	10: 49,132,680	M770I	probably benign	Het
Hcst	T	C	7: 30,417,825	N74S	probably damaging	Het
Hdac9	T	A	12: 34,431,991		probably null	Het
Hsfy2	T	A	1: 56,636,991	D129V	probably damaging	Het
Htt	T	C	5: 34,824,895	V941A	probably benign	Het
Naip5	A	G	13: 100,214,663	V1279A	possibly damaging	Het
Neb	T	A	2: 52,280,612	M1683L	probably benign	Het
Nudt21	C	T	8: 94,019,654	V139I	probably benign	Het
Olfr513	T	C	7: 108,755,029	Y58H	probably damaging	Het
Pex2	A	G	3: 5,561,131	F206S	probably damaging	Het
Plek2	C	A	12: 78,896,291	R77L	probably benign	Het
Ppfia1	A	T	7: 144,506,205	D623E	possibly damaging	Het
Ppm1l	T	A	3: 69,553,041	I317N	probably damaging	Het
Prkacb	T	A	3: 146,755,724	T36S	probably damaging	Het
Sphkap	T	A	1: 83,278,823	I115F	probably damaging	Het
Sprtn	G	T	8: 124,899,134	E95*	probably null	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tcap	C	A	11: 98,384,177	Q46K	probably benign	Het
Thada	T	C	17: 84,443,911	I546V	possibly damaging	Het
Tubal3	T	A	13: 3,933,107	S296T	probably benign	Het
Ube3a	A	G	7: 59,287,024	N683D	probably damaging	Het
Vmn2r82	T	G	10: 79,379,037	L285V	possibly damaging	Het
Zfp871	T	C	17: 32,775,673	D157G	possibly damaging	Het

Other mutations in Clptm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Clptm1	APN	7	19637700	missense	probably benign	0.14
IGL01909:Clptm1	APN	7	19655776	missense	probably benign	0.37
IGL03089:Clptm1	APN	7	19637147	missense	probably damaging	1.00
H8786:Clptm1	UTSW	7	19635704	missense	possibly damaging	0.54
R0128:Clptm1	UTSW	7	19635007	missense	probably damaging	1.00
R0835:Clptm1	UTSW	7	19635674	missense	possibly damaging	0.61
R1167:Clptm1	UTSW	7	19634211	missense	probably damaging	1.00
R1370:Clptm1	UTSW	7	19633872	missense	possibly damaging	0.61
R1655:Clptm1	UTSW	7	19645867	missense	probably benign	0.00
R1855:Clptm1	UTSW	7	19638209	missense	probably benign	0.05
R2004:Clptm1	UTSW	7	19646837	missense	possibly damaging	0.46
R2189:Clptm1	UTSW	7	19637145	nonsense	probably null
R2203:Clptm1	UTSW	7	19633892	missense	possibly damaging	0.92
R3237:Clptm1	UTSW	7	19635346	missense	probably damaging	0.99
R3963:Clptm1	UTSW	7	19638196	nonsense	probably null
R5416:Clptm1	UTSW	7	19633816	unclassified	probably benign
R6110:Clptm1	UTSW	7	19633806	unclassified	probably benign
R6737:Clptm1	UTSW	7	19637076	critical splice donor site	probably null
R6897:Clptm1	UTSW	7	19635826	missense	possibly damaging	0.94
R8144:Clptm1	UTSW	7	19633902	missense	possibly damaging	0.88
R8244:Clptm1	UTSW	7	19638991	missense	possibly damaging	0.46
R8374:Clptm1	UTSW	7	19638156	missense	probably benign	0.13
R8438:Clptm1	UTSW	7	19645851	missense	probably benign	0.00
Z1177:Clptm1	UTSW	7	19637468	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAACATAGAGCCTGACTC -3'
(R):5'- TTCTGCCATGCAAGGGTGTAC -3'

Sequencing Primer
(F):5'- TCACCCGGACGTCCATGAC -3'
(R):5'- ATGTATGGTCCCAGCTAACCTG -3'

Posted On

2018-05-21