Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Cmtm1'

540722

Institutional Source

Beutler Lab

Gene Symbol

Cmtm1

Ensembl Gene

ENSMUSG00000110430

Gene Name

CKLF-like MARVEL transmembrane domain containing 1

Synonyms

Cklfsf1, CHLFH1a, CKLFH1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R6821 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

104292622-104310145 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG to TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG at 104309702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132828 (fasta)

Gene Model

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

AlphaFold

B7ZP21

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 null
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: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,948,173	F506I	probably damaging	Het
Atp9b	A	T	18: 80,847,248	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045	N791Y	probably damaging	Het
D630003M21Rik	A	C	2: 158,204,774	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083	I96V	probably benign	Het
Gars	A	G	6: 55,079,338	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,484,493	I2T	probably benign	Het
Ints9	A	G	14: 65,037,458	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467	P47S	probably benign	Het
Map10	A	G	8: 125,670,399	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475	N3403S	probably damaging	Het
Nvl	G	A	1: 181,126,970	Q343*	probably null	Het
Ocstamp	A	T	2: 165,397,922	S115T	probably benign	Het
Olfr632	A	T	7: 103,937,586	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847		probably null	Het
Pcdhb20	A	T	18: 37,506,122	N567I	probably damaging	Het
Pgm5	A	T	19: 24,861,647	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,386,444	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777	D803G	probably damaging	Het
Rbm26	G	A	14: 105,116,964		probably benign	Het
Rspry1	C	T	8: 94,635,431	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787	V438A	probably benign	Het
Spast	A	G	17: 74,351,962	E108G	probably benign	Het
Speg	A	G	1: 75,417,903	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490		probably null	Het
Tgfbi	T	C	13: 56,626,137	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267	F493I	probably damaging	Het

Other mutations in Cmtm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Senilicus	UTSW	8	104309295	missense	possibly damaging	0.90
G1citation:Cmtm1	UTSW	8	104309702	frame shift	probably null
R2900:Cmtm1	UTSW	8	104309544	missense	possibly damaging	0.95
R4132:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R4615:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R4723:Cmtm1	UTSW	8	104293675	missense	probably damaging	0.96
R5277:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5347:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5364:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5394:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5403:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5611:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5715:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5731:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R5773:Cmtm1	UTSW	8	104305176	missense	probably damaging	1.00
R6017:Cmtm1	UTSW	8	104310951	unclassified	probably benign
R6207:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R6313:Cmtm1	UTSW	8	104305163	missense	possibly damaging	0.81
R6528:Cmtm1	UTSW	8	104309295	missense	possibly damaging	0.90
R6817:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R6822:Cmtm1	UTSW	8	104309702	frame shift	probably null
R7028:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R7128:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R7132:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R7816:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R7819:Cmtm1	UTSW	8	104309702	frame shift	probably null
R7841:Cmtm1	UTSW	8	104309476	missense	possibly damaging	0.55
R7963:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R7988:Cmtm1	UTSW	8	104310142	unclassified	probably benign
R8130:Cmtm1	UTSW	8	104309456	missense	unknown
R8152:Cmtm1	UTSW	8	104309941	missense	possibly damaging	0.83
R8439:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R8459:Cmtm1	UTSW	8	104309511	missense	possibly damaging	0.95
R8683:Cmtm1	UTSW	8	104309470	small deletion	probably benign
R8843:Cmtm1	UTSW	8	104309702	frame shift	probably null
R8860:Cmtm1	UTSW	8	104309702	frame shift	probably null
R8871:Cmtm1	UTSW	8	104309702	frame shift	probably null
R9093:Cmtm1	UTSW	8	104309702	frame shift	probably null
R9098:Cmtm1	UTSW	8	104309702	frame shift	probably null
R9528:Cmtm1	UTSW	8	104309470	small deletion	probably benign
RF041:Cmtm1	UTSW	8	104309470	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGGCACGTACTGAAGGTC -3'
(R):5'- CGCTTAACTTTACGACCTCGAG -3'

Sequencing Primer
(F):5'- ACGTACTGAAGGTCGCTGACTG -3'
(R):5'- ACCTTCGGATTCACAGGCGTATG -3'

Posted On

2018-11-16