Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Cmtm1'

510524

Institutional Source

Beutler Lab

Gene Symbol

Cmtm1

Ensembl Gene

ENSMUSG00000110430

Gene Name

CKLF-like MARVEL transmembrane domain containing 1

Synonyms

CKLFH1, CHLFH1a, Cklfsf1

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105020174-105036777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105031795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 283 (M283K)

Ref Sequence

ENSEMBL: ENSMUSP00000124800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159039] [ENSMUST00000160596] [ENSMUST00000162616] [ENSMUST00000164175]

AlphaFold

B7ZP21

Predicted Effect

probably benign
Transcript: ENSMUST00000159039
AA Change: M195K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430
AA Change: M195K

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	7.45e-12	PROSPERO
internal_repeat_2	34	74	9.92e-7	PROSPERO
internal_repeat_1	66	103	7.45e-12	PROSPERO
internal_repeat_2	122	162	9.92e-7	PROSPERO
transmembrane domain	190	212	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160596
AA Change: M283K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430
AA Change: M283K

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	1.42e-11	PROSPERO
internal_repeat_2	34	74	1.79e-6	PROSPERO
internal_repeat_1	66	103	1.42e-11	PROSPERO
internal_repeat_2	122	162	1.79e-6	PROSPERO
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	315	334	N/A	INTRINSIC
transmembrane domain	341	363	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162616
AA Change: M283K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876
AA Change: M283K

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	1.42e-11	PROSPERO
internal_repeat_2	34	74	1.79e-6	PROSPERO
internal_repeat_1	66	103	1.42e-11	PROSPERO
internal_repeat_2	122	162	1.79e-6	PROSPERO
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	315	334	N/A	INTRINSIC
transmembrane domain	341	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164175

SMART Domains

Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	34	71	1.23e-5	PROSPERO
internal_repeat_1	100	137	1.23e-5	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,126,344 (GRCm39)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Acaca	C	T	11: 84,183,755 (GRCm39)	T32I	probably benign	Het
Adam6a	A	T	12: 113,508,670 (GRCm39)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 132,940,469 (GRCm39)	D39G	possibly damaging	Het
Arid5b	T	C	10: 67,933,412 (GRCm39)	D587G	possibly damaging	Het
Brwd1	A	G	16: 95,809,141 (GRCm39)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,204 (GRCm39)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,907,579 (GRCm39)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,308,530 (GRCm39)	S1799L	probably damaging	Het
Cenpe	A	G	3: 134,935,936 (GRCm39)	E457G	probably benign	Het
Dcdc5	T	C	2: 106,198,516 (GRCm39)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm39)	M220L	probably benign	Het
Dgkg	T	G	16: 22,338,311 (GRCm39)	D592A	probably damaging	Het
Dkkl1	T	C	7: 44,860,862 (GRCm39)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,308,936 (GRCm39)	E146D	probably benign	Het
Efhc1	T	C	1: 21,049,652 (GRCm39)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,273,467 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,224,247 (GRCm39)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,232,465 (GRCm39)	V40G	probably damaging	Het
Gm3629	A	T	14: 17,834,409 (GRCm39)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,497,296 (GRCm39)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,376,506 (GRCm39)		probably null	Het
Hc	T	C	2: 34,879,851 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,861,921 (GRCm39)	S491P	probably damaging	Het
Knl1	T	A	2: 118,899,799 (GRCm39)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,319,146 (GRCm39)	T102S	probably damaging	Het
Lrrc7	A	G	3: 157,866,373 (GRCm39)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,702,071 (GRCm39)		probably null	Het
Mmp11	A	G	10: 75,759,818 (GRCm39)	*4R	probably null	Het
Myom1	A	T	17: 71,389,483 (GRCm39)	D911V	probably benign	Het
Nid1	A	G	13: 13,638,367 (GRCm39)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,052,597 (GRCm39)	V839L	probably benign	Het
Notch3	A	T	17: 32,370,128 (GRCm39)		probably null	Het
Or8k35	T	C	2: 86,424,411 (GRCm39)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 80,005,091 (GRCm39)	H978R	probably benign	Het
Pde8b	A	T	13: 95,178,508 (GRCm39)	C537*	probably null	Het
Polr1b	T	C	2: 128,967,366 (GRCm39)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,035,573 (GRCm39)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm39)	H133L	probably damaging	Het
Pou2af2	C	T	9: 51,201,481 (GRCm39)	D192N	probably damaging	Het
Ptk2b	T	A	14: 66,416,280 (GRCm39)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rlf	G	A	4: 121,005,807 (GRCm39)	R1058W	probably damaging	Het
S100z	T	A	13: 95,615,082 (GRCm39)	K28*	probably null	Het
Scarf1	T	A	11: 75,411,141 (GRCm39)	N273K	probably benign	Het
Setd2	A	G	9: 110,385,434 (GRCm39)	I136M	unknown	Het
Sfrp2	A	G	3: 83,674,291 (GRCm39)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,610,464 (GRCm39)	I112L	probably benign	Het
Smc5	A	T	19: 23,186,312 (GRCm39)	Y972*	probably null	Het
Sntg1	T	C	1: 8,515,248 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,129,470 (GRCm39)	N1180S	probably benign	Het
Stag1	A	G	9: 100,639,786 (GRCm39)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,233,192 (GRCm39)	S46P	probably damaging	Het
Synj1	C	T	16: 90,743,703 (GRCm39)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,732,410 (GRCm39)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,721,341 (GRCm39)		probably null	Het
Tchh	C	A	3: 93,355,158 (GRCm39)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,759,058 (GRCm39)	T887A	probably benign	Het
Ttn	T	C	2: 76,536,937 (GRCm39)	I34963V	probably benign	Het
Unc79	G	A	12: 103,078,878 (GRCm39)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm39)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,602,867 (GRCm39)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,810,854 (GRCm39)	N337K	probably benign	Het
Zfp260	T	A	7: 29,804,267 (GRCm39)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,440,746 (GRCm39)	E610K	probably damaging	Het

Other mutations in Cmtm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Senilicus	UTSW	8	105,035,927 (GRCm39)	missense	possibly damaging	0.90
G1citation:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R2900:Cmtm1	UTSW	8	105,036,176 (GRCm39)	missense	possibly damaging	0.95
R4132:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R4615:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R4723:Cmtm1	UTSW	8	105,020,307 (GRCm39)	missense	probably damaging	0.96
R5277:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5347:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5364:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5394:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5403:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5611:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5715:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5731:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R5773:Cmtm1	UTSW	8	105,031,808 (GRCm39)	missense	probably damaging	1.00
R6017:Cmtm1	UTSW	8	105,037,583 (GRCm39)	unclassified	probably benign
R6207:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R6528:Cmtm1	UTSW	8	105,035,927 (GRCm39)	missense	possibly damaging	0.90
R6817:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R6821:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R6822:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R7028:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R7128:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R7132:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R7816:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R7819:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R7841:Cmtm1	UTSW	8	105,036,108 (GRCm39)	missense	possibly damaging	0.55
R7963:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R7988:Cmtm1	UTSW	8	105,036,774 (GRCm39)	unclassified	probably benign
R8130:Cmtm1	UTSW	8	105,036,088 (GRCm39)	missense	unknown
R8152:Cmtm1	UTSW	8	105,036,573 (GRCm39)	missense	possibly damaging	0.83
R8439:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R8459:Cmtm1	UTSW	8	105,036,143 (GRCm39)	missense	possibly damaging	0.95
R8683:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
R8843:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R8860:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R8871:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R9093:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R9098:Cmtm1	UTSW	8	105,036,334 (GRCm39)	frame shift	probably null
R9528:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign
RF041:Cmtm1	UTSW	8	105,036,102 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCCAAAGGCTTACTCTTGG -3'
(R):5'- GCACACGCACATGTATGCAC -3'

Sequencing Primer
(F):5'- CCCAAAGGCTTACTCTTGGGTTTATG -3'
(R):5'- CGCACATGTATGCACAAACAG -3'

Posted On

2018-04-02