Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01551:Cmtm2a'

93255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmtm2a

Ensembl Gene

ENSMUSG00000074127

Gene Name

CKLF-like MARVEL transmembrane domain containing 2A

Synonyms

Cklf, 1700063K20Rik, 1700001K04Rik, ARR19, 1700041N15Rik, Cklfsf2a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01551

Quality Score

Status

Chromosome

Chromosomal Location

105007674-105019813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105019286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000148812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034344] [ENSMUST00000159039] [ENSMUST00000160596] [ENSMUST00000162616] [ENSMUST00000164175] [ENSMUST00000212487] [ENSMUST00000212492]

AlphaFold

Q9DAR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034344
AA Change: V101A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034344
Gene: ENSMUSG00000074127
AA Change: V101A

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
transmembrane domain	136	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159039

SMART Domains

Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430

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

probably benign
Transcript: ENSMUST00000160596

SMART Domains

Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430

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: ENSMUST00000162616

SMART Domains

Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212487
AA Change: V101A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212492
AA Change: V101A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,147 (GRCm39)	S103L	possibly damaging	Het
Acvr2a	G	A	2: 48,787,071 (GRCm39)	A389T	probably damaging	Het
Adamts9	A	G	6: 92,784,001 (GRCm39)	S1037P	probably damaging	Het
Adcyap1	A	G	17: 93,511,446 (GRCm39)	Y140C	probably damaging	Het
Ampd3	A	G	7: 110,404,183 (GRCm39)	N569S	probably damaging	Het
Bin1	G	T	18: 32,510,511 (GRCm39)	V18L	probably benign	Het
Ccdc158	A	G	5: 92,814,620 (GRCm39)	Y69H	probably damaging	Het
Ccdc70	A	G	8: 22,463,611 (GRCm39)	R134G	possibly damaging	Het
Edar	T	C	10: 58,441,860 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,134,691 (GRCm39)		probably benign	Het
Gm10961	A	G	3: 107,540,281 (GRCm39)		probably benign	Het
Hsd3b3	T	C	3: 98,649,216 (GRCm39)	D369G	probably benign	Het
Ifi202b	T	A	1: 173,798,928 (GRCm39)	K373N	probably benign	Het
Khk	C	A	5: 31,082,189 (GRCm39)	H67N	probably benign	Het
Kif7	T	A	7: 79,360,314 (GRCm39)		probably null	Het
Mbd1	C	T	18: 74,402,614 (GRCm39)		probably benign	Het
Mtor	A	G	4: 148,556,494 (GRCm39)	H968R	probably damaging	Het
Nadk	A	G	4: 155,673,157 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,771,618 (GRCm39)	T250A	probably benign	Het
Or2f1b	A	G	6: 42,739,046 (GRCm39)	D20G	probably damaging	Het
Or5d40	A	T	2: 88,015,629 (GRCm39)	H136L	probably benign	Het
Otol1	T	C	3: 69,935,057 (GRCm39)	F350L	probably damaging	Het
Pramel22	T	C	4: 143,383,042 (GRCm39)	N59S	probably damaging	Het
Prkcg	G	A	7: 3,352,342 (GRCm39)		probably benign	Het
Rps6kc1	A	T	1: 190,505,837 (GRCm39)	S1042T	possibly damaging	Het
Rtn1	C	T	12: 72,263,709 (GRCm39)	V741I	possibly damaging	Het
Tor2a	T	A	2: 32,650,595 (GRCm39)		probably benign	Het
Vmn1r177	T	C	7: 23,565,688 (GRCm39)	I63V	probably benign	Het
Vmn2r58	T	A	7: 41,514,703 (GRCm39)	I89F	probably damaging	Het
Xirp2	A	G	2: 67,343,849 (GRCm39)	D2030G	probably benign	Het
Zfp326	T	C	5: 106,036,451 (GRCm39)	S121P	probably damaging	Het

Other mutations in Cmtm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cmtm2a	APN	8	105,019,562 (GRCm39)	missense	probably damaging	0.99
IGL00774:Cmtm2a	APN	8	105,019,562 (GRCm39)	missense	probably damaging	0.99
IGL03410:Cmtm2a	APN	8	105,010,501 (GRCm39)	missense	probably damaging	1.00
R2122:Cmtm2a	UTSW	8	105,019,655 (GRCm39)	missense	possibly damaging	0.55
R4092:Cmtm2a	UTSW	8	105,019,403 (GRCm39)	missense	probably benign	0.08
R5683:Cmtm2a	UTSW	8	105,019,676 (GRCm39)	splice site	probably null
R5735:Cmtm2a	UTSW	8	105,019,418 (GRCm39)	missense	probably damaging	1.00
R6133:Cmtm2a	UTSW	8	105,019,362 (GRCm39)	missense	probably benign	0.29
R8125:Cmtm2a	UTSW	8	105,019,343 (GRCm39)	missense	probably damaging	1.00
R8195:Cmtm2a	UTSW	8	105,019,670 (GRCm39)	missense	probably benign
R8838:Cmtm2a	UTSW	8	105,008,036 (GRCm39)	missense	probably damaging	0.99
R9001:Cmtm2a	UTSW	8	105,019,376 (GRCm39)	missense	probably benign	0.15
R9219:Cmtm2a	UTSW	8	105,008,101 (GRCm39)	missense	probably damaging	0.99
R9615:Cmtm2a	UTSW	8	105,019,286 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-12-09