Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03376:Cmtr1'

420484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cmtr1

Ensembl Gene

ENSMUSG00000024019

Gene Name

cap methyltransferase 1

Synonyms

Ftsjd2, 1300018I05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

29660595-29705979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29691411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 497 (R497C)

Ref Sequence

ENSEMBL: ENSMUSP00000024816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000130871] [ENSMUST00000137079]

AlphaFold

Q9DBC3

Predicted Effect

probably benign
Transcript: ENSMUST00000024816
AA Change: R497C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019
AA Change: R497C

Domain	Start	End	E-Value	Type
G_patch	84	130	1.93e-10	SMART
Pfam:FtsJ	231	448	9.5e-42	PFAM
SCOP:d1ckma2	625	718	4e-3	SMART
WW	752	785	2.05e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130052

Predicted Effect

probably benign
Transcript: ENSMUST00000130871

SMART Domains

Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374

Domain	Start	End	E-Value	Type
FHA	37	92	5.55e-8	SMART
low complexity region	116	130	N/A	INTRINSIC
low complexity region	299	317	N/A	INTRINSIC
RING	406	443	3.64e-7	SMART
G_patch	524	570	1.93e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137079

SMART Domains

Protein: ENSMUSP00000115603
Gene: ENSMUSG00000024018

Domain	Start	End	E-Value	Type
Pfam:CCDC-167	9	53	1.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172610

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,102,159		probably benign	Het
Ccdc122	A	G	14: 77,068,912	E41G	probably damaging	Het
Cdh3	C	T	8: 106,541,404	T357I	probably benign	Het
Cfap57	T	A	4: 118,584,720	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,034,725	T859S	possibly damaging	Het
Csmd2	T	C	4: 128,517,671	I2494T	probably benign	Het
Dmkn	C	T	7: 30,771,242	T385I	possibly damaging	Het
Eml3	A	G	19: 8,933,790	D260G	probably damaging	Het
Gbf1	T	C	19: 46,262,521	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,356,255	R32H	probably damaging	Het
Hpx	C	T	7: 105,592,251		probably benign	Het
Ikzf3	T	A	11: 98,488,953	H163L	probably damaging	Het
Irak3	G	A	10: 120,146,636		probably benign	Het
Itih5	G	A	2: 10,206,773	V275I	probably benign	Het
Klc1	G	T	12: 111,775,953	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,078,232	*108W	probably null	Het
Mcph1	T	C	8: 18,596,973	S31P	probably damaging	Het
Mettl4	A	T	17: 94,735,371	S346T	probably damaging	Het
Myo3a	A	T	2: 22,600,074		probably benign	Het
Olfr703	T	A	7: 106,845,470	N286K	probably damaging	Het
Otol1	A	G	3: 70,027,512	E279G	probably damaging	Het
Pappa	T	A	4: 65,196,834	N722K	probably benign	Het
Pramel7	A	G	2: 87,489,603	S449P	probably damaging	Het
Rassf9	A	G	10: 102,545,198	N145S	probably damaging	Het
Robo2	T	C	16: 73,956,492	I158M	probably damaging	Het
Sbf1	A	G	15: 89,289,016		probably benign	Het
Slc30a8	C	T	15: 52,306,457	R27*	probably null	Het
Tmco2	T	A	4: 121,109,052	T36S	probably benign	Het
Tns4	T	C	11: 99,078,556	S360G	probably benign	Het
Vwa8	A	G	14: 79,183,134		probably null	Het
Wwc1	C	T	11: 35,852,294	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,876,551		probably benign	Het

Other mutations in Cmtr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Cmtr1	APN	17	29674262	missense	probably damaging	0.99
IGL00980:Cmtr1	APN	17	29691284	missense	probably benign	0.00
IGL00987:Cmtr1	APN	17	29697169	missense	probably benign	0.01
IGL01413:Cmtr1	APN	17	29697982	missense	probably benign	0.00
IGL01481:Cmtr1	APN	17	29698657	missense	probably benign	0.02
IGL02281:Cmtr1	APN	17	29691281	missense	probably benign	0.00
IGL03079:Cmtr1	APN	17	29663293	missense	possibly damaging	0.71
PIT4403001:Cmtr1	UTSW	17	29698073	critical splice donor site	probably null
R0256:Cmtr1	UTSW	17	29697124	missense	probably damaging	1.00
R0505:Cmtr1	UTSW	17	29676285	missense	probably benign	0.17
R1477:Cmtr1	UTSW	17	29697157	missense	possibly damaging	0.63
R1623:Cmtr1	UTSW	17	29687047	splice site	probably null
R1852:Cmtr1	UTSW	17	29702255	missense	probably benign	0.32
R1867:Cmtr1	UTSW	17	29674174	missense	probably benign	0.36
R1918:Cmtr1	UTSW	17	29679009	missense	possibly damaging	0.63
R2070:Cmtr1	UTSW	17	29694783	critical splice acceptor site	probably null
R2071:Cmtr1	UTSW	17	29694783	critical splice acceptor site	probably null
R2161:Cmtr1	UTSW	17	29702173	missense	probably benign	0.03
R2518:Cmtr1	UTSW	17	29681980	nonsense	probably null
R2763:Cmtr1	UTSW	17	29680628	missense	possibly damaging	0.89
R4077:Cmtr1	UTSW	17	29685975	missense	probably damaging	1.00
R4271:Cmtr1	UTSW	17	29697982	missense	probably benign	0.00
R4363:Cmtr1	UTSW	17	29674232	missense	probably damaging	1.00
R4723:Cmtr1	UTSW	17	29687157	splice site	probably null
R4736:Cmtr1	UTSW	17	29700242	missense	possibly damaging	0.94
R5056:Cmtr1	UTSW	17	29690328	missense	possibly damaging	0.64
R5492:Cmtr1	UTSW	17	29690342	missense	probably damaging	1.00
R5704:Cmtr1	UTSW	17	29663243	missense	possibly damaging	0.95
R5990:Cmtr1	UTSW	17	29702161	missense	probably benign
R6050:Cmtr1	UTSW	17	29682134	missense	probably damaging	1.00
R6117:Cmtr1	UTSW	17	29682165	missense	probably benign	0.43
R6238:Cmtr1	UTSW	17	29682148	missense	probably damaging	1.00
R7199:Cmtr1	UTSW	17	29676200	missense	probably benign
R7229:Cmtr1	UTSW	17	29695424	critical splice acceptor site	probably null
R8337:Cmtr1	UTSW	17	29674177	missense	probably benign	0.25
R9538:Cmtr1	UTSW	17	29663308	critical splice donor site	probably null
R9607:Cmtr1	UTSW	17	29674222	missense	probably benign	0.01

Posted On

2016-08-02