Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02930:Cmtm2b'

364057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmtm2b

Ensembl Gene

ENSMUSG00000035785

Gene Name

CKLF-like MARVEL transmembrane domain containing 2B

Synonyms

Cklfsf2b, 1700013O04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

105048862-105057396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 105056402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 104 (M104L)

Ref Sequence

ENSEMBL: ENSMUSP00000043127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000212912]

AlphaFold

Q9DAC0

Predicted Effect

probably benign
Transcript: ENSMUST00000041973
AA Change: M104L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785
AA Change: M104L

Domain	Start	End	E-Value	Type
transmembrane domain	45	62	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	95	117	N/A	INTRINSIC
transmembrane domain	127	149	N/A	INTRINSIC
low complexity region	185	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212912

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,226 (GRCm39)	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,480,756 (GRCm39)	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,392,245 (GRCm39)	I478T	possibly damaging	Het
Cabs1	A	G	5: 88,127,745 (GRCm39)	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,879,643 (GRCm39)	E475G	probably damaging	Het
Cops2	T	C	2: 125,674,109 (GRCm39)		probably benign	Het
Dnajc4	C	A	19: 6,966,801 (GRCm39)	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,394,536 (GRCm39)	N267D	probably damaging	Het
Elobl	T	G	11: 88,856,012 (GRCm39)	D17A	possibly damaging	Het
Erich6	G	A	3: 58,529,775 (GRCm39)		probably benign	Het
Flna	G	A	X: 73,267,506 (GRCm39)	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,548,439 (GRCm39)		probably benign	Het
Gpc1	G	T	1: 92,785,021 (GRCm39)	E355*	probably null	Het
Islr	C	T	9: 58,065,483 (GRCm39)		probably benign	Het
Mex3a	A	T	3: 88,443,532 (GRCm39)	I203L	probably benign	Het
Or5p58	A	T	7: 107,694,621 (GRCm39)	I52N	probably damaging	Het
Or6c88	T	C	10: 129,407,184 (GRCm39)	I220T	probably damaging	Het
Or8g24	G	T	9: 38,989,308 (GRCm39)	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,215,394 (GRCm39)	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,304,778 (GRCm39)	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,196,548 (GRCm39)	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376 (GRCm39)	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,280,559 (GRCm39)	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,367,161 (GRCm39)	T382A	possibly damaging	Het
Tbx21	A	G	11: 96,990,865 (GRCm39)	I271T	probably damaging	Het
Timeless	T	C	10: 128,083,060 (GRCm39)	V632A	probably benign	Het
Tle3	A	G	9: 61,301,981 (GRCm39)	N67S	possibly damaging	Het
Tln2	G	A	9: 67,300,944 (GRCm39)	R95*	probably null	Het
Trim24	A	G	6: 37,928,380 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,196,537 (GRCm39)	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,013,579 (GRCm39)	K210R	probably benign	Het

Other mutations in Cmtm2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cmtm2b	APN	8	105,057,078 (GRCm39)	missense	possibly damaging	0.95
IGL01629:Cmtm2b	APN	8	105,056,420 (GRCm39)	missense	possibly damaging	0.80
R0268:Cmtm2b	UTSW	8	105,049,066 (GRCm39)	missense	probably damaging	1.00
R0486:Cmtm2b	UTSW	8	105,057,047 (GRCm39)	missense	probably damaging	1.00
R6721:Cmtm2b	UTSW	8	105,049,077 (GRCm39)	missense	possibly damaging	0.91
R7582:Cmtm2b	UTSW	8	105,049,353 (GRCm39)	missense	probably damaging	1.00
R7952:Cmtm2b	UTSW	8	105,057,203 (GRCm39)	nonsense	probably null
R7991:Cmtm2b	UTSW	8	105,056,419 (GRCm39)	nonsense	probably null
R9289:Cmtm2b	UTSW	8	105,048,980 (GRCm39)	unclassified	probably benign

Posted On

2015-12-18