Mutagenetix > Incidental Mutation

Incidental Mutation 'R0088:Carnmt1'

20031

Institutional Source

Beutler Lab

Gene Symbol

Carnmt1

Ensembl Gene

ENSMUSG00000024726

Gene Name

carnosine N-methyltransferase 1

Synonyms

2410127L17Rik

MMRRC Submission

038375-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R0088 (G1)

Quality Score

221

Status

Validated (trace)

Chromosome

Chromosomal Location

18648128-18684564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18655217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 123 (H123Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025632]

AlphaFold

Q80UY1

Predicted Effect

probably benign
Transcript: ENSMUST00000025632
AA Change: H123Q

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025632
Gene: ENSMUSG00000024726
AA Change: H123Q

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
N2227	135	400	2.56e-169	SMART

Meta Mutation Damage Score

0.1644

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

82% (32/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 25,404,083 (GRCm39)	K243R	probably damaging	Het
Akap9	C	A	5: 4,011,946 (GRCm39)	T883K	probably benign	Het
Arhgap5	G	T	12: 52,563,331 (GRCm39)	D101Y	probably damaging	Het
Bnc1	T	G	7: 81,628,246 (GRCm39)	N39T	possibly damaging	Het
Cdh24	T	C	14: 54,871,171 (GRCm39)	D92G	probably damaging	Het
Eomes	A	G	9: 118,307,741 (GRCm39)	E5G	probably damaging	Het
Eqtn	T	C	4: 94,808,227 (GRCm39)	T192A	probably damaging	Het
Fam110c	T	C	12: 31,125,217 (GRCm39)	V393A	probably damaging	Het
Fbll1	C	A	11: 35,688,967 (GRCm39)	A99S	possibly damaging	Het
Il1rl2	A	T	1: 40,404,213 (GRCm39)	I445F	possibly damaging	Het
Ipo8	T	C	6: 148,703,434 (GRCm39)	T400A	probably benign	Het
Iqsec3	T	C	6: 121,450,248 (GRCm39)	E92G	probably damaging	Het
Itpr2	C	T	6: 146,142,683 (GRCm39)	V1679M	probably benign	Het
Kif2a	G	A	13: 107,111,940 (GRCm39)	A478V	probably damaging	Het
Lingo4	A	G	3: 94,309,340 (GRCm39)	S93G	probably benign	Het
Mrpl37	A	G	4: 106,921,621 (GRCm39)	S203P	possibly damaging	Het
Ndel1	A	C	11: 68,724,246 (GRCm39)	S242R	probably damaging	Het
Nfatc3	T	A	8: 106,854,574 (GRCm39)	M1036K	possibly damaging	Het
Ngrn	T	C	7: 79,914,203 (GRCm39)	I118T	probably damaging	Het
Or10d5	A	G	9: 39,861,671 (GRCm39)	V132A	probably benign	Het
Pex10	A	T	4: 155,154,955 (GRCm39)	S236C	probably damaging	Het
Phkb	T	G	8: 86,669,020 (GRCm39)		probably null	Het
Pklr	A	G	3: 89,049,215 (GRCm39)	Y187C	probably damaging	Het
Plekhh1	A	C	12: 79,102,140 (GRCm39)	E403D	probably benign	Het
Pls1	T	C	9: 95,677,821 (GRCm39)	K22E	possibly damaging	Het
Prdm2	G	A	4: 142,861,524 (GRCm39)	H589Y	possibly damaging	Het
Rabggtb	C	A	3: 153,614,467 (GRCm39)	R230L	probably damaging	Het
Rsph4a	A	G	10: 33,785,349 (GRCm39)	E420G	probably benign	Het
Sdk2	T	C	11: 113,717,912 (GRCm39)	N1484S	possibly damaging	Het
St8sia3	T	A	18: 64,400,056 (GRCm39)	V17E	possibly damaging	Het
Sult6b2	T	A	6: 142,743,675 (GRCm39)	N117I	probably damaging	Het
Thbs2	T	C	17: 14,901,963 (GRCm39)	T422A	possibly damaging	Het
Tmem266	A	G	9: 55,344,613 (GRCm39)	D415G	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttyh2	G	T	11: 114,581,081 (GRCm39)	G107C	probably damaging	Het
Ubr4	A	G	4: 139,168,125 (GRCm39)	D2835G	probably damaging	Het
Zranb3	T	C	1: 127,904,199 (GRCm39)	D540G	probably benign	Het

Other mutations in Carnmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Carnmt1	APN	19	18,680,746 (GRCm39)	missense	possibly damaging	0.92
IGL01347:Carnmt1	APN	19	18,668,818 (GRCm39)	missense	probably benign	0.21
R1929:Carnmt1	UTSW	19	18,680,734 (GRCm39)	missense	probably damaging	1.00
R2270:Carnmt1	UTSW	19	18,680,734 (GRCm39)	missense	probably damaging	1.00
R2271:Carnmt1	UTSW	19	18,680,734 (GRCm39)	missense	probably damaging	1.00
R2272:Carnmt1	UTSW	19	18,680,734 (GRCm39)	missense	probably damaging	1.00
R2519:Carnmt1	UTSW	19	18,671,075 (GRCm39)	missense	probably benign	0.41
R4597:Carnmt1	UTSW	19	18,648,451 (GRCm39)	missense	probably damaging	1.00
R5030:Carnmt1	UTSW	19	18,668,950 (GRCm39)	missense	possibly damaging	0.82
R5114:Carnmt1	UTSW	19	18,655,098 (GRCm39)	missense	probably damaging	1.00
R5933:Carnmt1	UTSW	19	18,681,469 (GRCm39)	missense	probably benign	0.00
R7262:Carnmt1	UTSW	19	18,655,228 (GRCm39)	missense	probably benign	0.33
R7394:Carnmt1	UTSW	19	18,648,201 (GRCm39)	start gained	probably benign
X0024:Carnmt1	UTSW	19	18,655,068 (GRCm39)	nonsense	probably null
X0065:Carnmt1	UTSW	19	18,667,673 (GRCm39)	missense	probably benign	0.00
Z1176:Carnmt1	UTSW	19	18,681,454 (GRCm39)	missense	probably benign	0.27
Z1176:Carnmt1	UTSW	19	18,656,577 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- GTCCAGCAGGACTTCGGAATAACAG -3'
(R):5'- TCTAGCATGGTGTTCACCCAGCTC -3'

Sequencing Primer
(F):5'- CAGTTATGCAAGCTGACAGTC -3'
(R):5'- GTTCACCCAGCTCCCCAG -3'

Posted On

2013-04-11