Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Cmtr2'

363687

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmtr2

Ensembl Gene

ENSMUSG00000046441

Gene Name

cap methyltransferase 2

Synonyms

Ftsjd1, C730036L12Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

110215665-110224486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110222878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 607 (T607A)

Ref Sequence

ENSEMBL: ENSMUSP00000060558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056972] [ENSMUST00000189685]

AlphaFold

Q8BWQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000056972
AA Change: T607A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: T607A

Domain	Start	End	E-Value	Type
Pfam:FtsJ	110	320	1.7e-28	PFAM
low complexity region	550	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189685

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	T	15: 8,269,778	R3150M	unknown	Het
2410089E03Rik	G	T	15: 8,269,779	R3150S	unknown	Het
4931417E11Rik	A	G	6: 73,469,120	Y149H	probably damaging	Het
Alox5	T	G	6: 116,420,335	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004	E301K	probably damaging	Het
Astn1	A	G	1: 158,688,550	S1237G	probably damaging	Het
Atf6	G	A	1: 170,799,714	P394S	probably benign	Het
Atp4a	G	A	7: 30,715,919	M321I	probably benign	Het
C4bp	G	A	1: 130,655,985	T82I	probably damaging	Het
Cask	A	T	X: 13,552,447		probably benign	Het
Cenpf	A	T	1: 189,646,876	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,492,800	F103L	probably benign	Het
Chrnb3	A	T	8: 27,386,806	T83S	probably damaging	Het
Cts7	A	T	13: 61,356,626		probably benign	Het
Dgkz	A	T	2: 91,939,962	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 102,713,567	L206Q	probably benign	Het
Dus3l	C	T	17: 56,768,363	L397F	probably damaging	Het
Fam159b	T	A	13: 104,863,610	Y35F	probably benign	Het
Gm13089	A	T	4: 143,699,166	M69K	probably benign	Het
Gm6356	C	T	14: 6,973,735	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,400,191		probably null	Het
Kcmf1	A	T	6: 72,858,883	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,757,654	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,193,210		probably benign	Het
Magee1	G	T	X: 105,123,339	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,471,258		probably benign	Het
Mfsd4b3	T	A	10: 39,947,643	E207V	possibly damaging	Het
Olfr1354	A	G	10: 78,917,416	D192G	probably damaging	Het
Olfr697	A	G	7: 106,741,710	S75P	probably damaging	Het
Pappa	T	C	4: 65,261,980	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,748,872	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,955,649	L45Q	probably benign	Het
Ptprq	T	C	10: 107,666,586	T824A	possibly damaging	Het
Rfwd3	T	C	8: 111,278,229	T574A	probably benign	Het
Rsbn1	T	C	3: 103,928,569	S308P	probably damaging	Het
Smr2	A	T	5: 88,108,630	I56F	probably benign	Het
Wdfy4	C	T	14: 33,109,650	R873H	probably damaging	Het

Other mutations in Cmtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Cmtr2	APN	8	110223100	missense	probably benign	0.02
IGL01068:Cmtr2	APN	8	110222869	missense	possibly damaging	0.65
IGL01286:Cmtr2	APN	8	110222852	missense	possibly damaging	0.95
IGL01916:Cmtr2	APN	8	110221948	missense	probably benign	0.01
IGL02302:Cmtr2	APN	8	110221504	missense	probably damaging	1.00
IGL02426:Cmtr2	APN	8	110221690	missense	possibly damaging	0.65
PIT4362001:Cmtr2	UTSW	8	110222336	missense	probably damaging	0.99
R1435:Cmtr2	UTSW	8	110221079	missense	probably benign
R1501:Cmtr2	UTSW	8	110221603	missense	probably benign	0.29
R1512:Cmtr2	UTSW	8	110222635	missense	probably damaging	0.99
R1709:Cmtr2	UTSW	8	110221949	missense	probably benign	0.31
R1715:Cmtr2	UTSW	8	110222798	missense	probably damaging	1.00
R1953:Cmtr2	UTSW	8	110221919	missense	probably damaging	1.00
R1960:Cmtr2	UTSW	8	110221750	missense	probably damaging	1.00
R2422:Cmtr2	UTSW	8	110222781	missense	probably benign	0.02
R3717:Cmtr2	UTSW	8	110221754	missense	probably damaging	0.96
R4043:Cmtr2	UTSW	8	110221830	nonsense	probably null
R4074:Cmtr2	UTSW	8	110221217	missense	possibly damaging	0.83
R4179:Cmtr2	UTSW	8	110221037	splice site	probably null
R4457:Cmtr2	UTSW	8	110222252	missense	probably benign	0.02
R4945:Cmtr2	UTSW	8	110221433	missense	probably damaging	0.99
R5371:Cmtr2	UTSW	8	110221412	missense	probably damaging	1.00
R6753:Cmtr2	UTSW	8	110222979	missense	probably damaging	1.00
R7231:Cmtr2	UTSW	8	110222546	missense	probably benign	0.02
R7527:Cmtr2	UTSW	8	110222138	missense	probably damaging	1.00
R7580:Cmtr2	UTSW	8	110221677	missense	probably damaging	0.99
R7808:Cmtr2	UTSW	8	110221619	missense	possibly damaging	0.88
R8510:Cmtr2	UTSW	8	110222435	missense	possibly damaging	0.53
R8690:Cmtr2	UTSW	8	110222345	missense	probably benign	0.00
R9172:Cmtr2	UTSW	8	110222129	missense	probably damaging	1.00
R9282:Cmtr2	UTSW	8	110222345	missense	probably benign
R9307:Cmtr2	UTSW	8	110223080	missense	probably benign	0.06
R9342:Cmtr2	UTSW	8	110222446	missense	possibly damaging	0.92
Z1177:Cmtr2	UTSW	8	110221499	frame shift	probably null

Posted On

2015-12-18