Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Carns1'

302442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Carns1

Ensembl Gene

ENSMUSG00000075289

Gene Name

carnosine synthase 1

Synonyms

Atpgd1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

4214323-4225478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4223083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 47 (C47Y)

Ref Sequence

ENSEMBL: ENSMUSP00000131624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167055]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000167055
AA Change: C47Y

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: C47Y

Domain	Start	End	E-Value	Type
low complexity region	206	217	N/A	INTRINSIC
low complexity region	312	328	N/A	INTRINSIC
low complexity region	332	348	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	414	433	N/A	INTRINSIC
low complexity region	490	496	N/A	INTRINSIC
Pfam:ATP-grasp_4	620	819	4.1e-46	PFAM
low complexity region	862	875	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181211

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,386 (GRCm39)	Y946F	probably benign	Het
Abcb4	T	G	5: 8,984,240 (GRCm39)	W657G	probably benign	Het
Adcy1	T	C	11: 7,088,279 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,124,047 (GRCm39)	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,153,201 (GRCm39)	Y89S	probably benign	Het
Chd5	C	T	4: 152,445,050 (GRCm39)	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,957,807 (GRCm39)	T481A	probably benign	Het
Cyth1	T	A	11: 118,073,072 (GRCm39)	D264V	probably damaging	Het
Dph1	C	A	11: 75,071,461 (GRCm39)	L311F	probably benign	Het
Eif3l	A	G	15: 78,961,142 (GRCm39)	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,976,146 (GRCm39)	F3Y	probably benign	Het
Hcn4	A	T	9: 58,766,748 (GRCm39)	T770S	unknown	Het
Hydin	A	T	8: 111,139,908 (GRCm39)	I726F	possibly damaging	Het
Klf2	A	G	8: 73,072,940 (GRCm39)	I7V	probably benign	Het
Ltn1	A	T	16: 87,212,662 (GRCm39)	L633H	probably damaging	Het
Ncoa3	A	G	2: 165,893,313 (GRCm39)	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,149,138 (GRCm39)	D248E	probably benign	Het
Nyap1	A	G	5: 137,733,746 (GRCm39)	I429T	probably damaging	Het
Or1j10	T	A	2: 36,267,072 (GRCm39)	C95S	probably damaging	Het
Or2p2	G	A	13: 21,256,982 (GRCm39)	T163I	probably damaging	Het
Or2t6	T	A	14: 14,175,732 (GRCm38)	M117L	possibly damaging	Het
Or51g1	A	G	7: 102,633,537 (GRCm39)	M278T	probably benign	Het
Or8s16	A	G	15: 98,211,237 (GRCm39)	S65P	probably damaging	Het
Pcf11	T	C	7: 92,296,254 (GRCm39)	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,792,689 (GRCm39)	F217I	probably benign	Het
Plxna4	A	T	6: 32,162,346 (GRCm39)	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,091 (GRCm39)	Y239C	probably benign	Het
Psma6	A	G	12: 55,458,996 (GRCm39)	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,551,141 (GRCm39)	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,663,240 (GRCm39)	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992 (GRCm39)	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,765,613 (GRCm39)	N345I	probably benign	Het
Sncaip	T	C	18: 53,028,027 (GRCm39)	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,178,530 (GRCm39)	I864N	probably damaging	Het
Spag5	C	T	11: 78,212,157 (GRCm39)	Q1062*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Szrd1	A	G	4: 140,867,057 (GRCm39)		probably benign	Het
Tns2	C	A	15: 102,016,231 (GRCm39)		probably benign	Het
Trcg1	C	A	9: 57,149,511 (GRCm39)	S361*	probably null	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,280,090 (GRCm39)	V124A	probably damaging	Het
Ttf1	T	C	2: 28,964,023 (GRCm39)	I633T	probably damaging	Het
Zfp691	A	G	4: 119,027,704 (GRCm39)	F176S	probably damaging	Het

Other mutations in Carns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Carns1	APN	19	4,216,498 (GRCm39)	splice site	probably null
IGL02246:Carns1	APN	19	4,216,431 (GRCm39)	missense	possibly damaging	0.87
IGL02800:Carns1	APN	19	4,216,569 (GRCm39)	splice site	probably benign
R1750:Carns1	UTSW	19	4,223,156 (GRCm39)	missense	possibly damaging	0.63
R1902:Carns1	UTSW	19	4,216,337 (GRCm39)	missense	probably damaging	1.00
R1935:Carns1	UTSW	19	4,215,473 (GRCm39)	missense	probably damaging	1.00
R2434:Carns1	UTSW	19	4,215,448 (GRCm39)	missense	probably damaging	1.00
R2437:Carns1	UTSW	19	4,215,782 (GRCm39)	missense	possibly damaging	0.69
R3772:Carns1	UTSW	19	4,220,915 (GRCm39)	splice site	probably benign
R4091:Carns1	UTSW	19	4,221,682 (GRCm39)	missense	probably damaging	0.96
R4518:Carns1	UTSW	19	4,220,069 (GRCm39)	missense	probably benign	0.05
R4668:Carns1	UTSW	19	4,215,475 (GRCm39)	nonsense	probably null
R4737:Carns1	UTSW	19	4,220,927 (GRCm39)	intron	probably benign
R4751:Carns1	UTSW	19	4,216,417 (GRCm39)	missense	probably damaging	1.00
R5384:Carns1	UTSW	19	4,221,900 (GRCm39)	critical splice acceptor site	probably null
R6077:Carns1	UTSW	19	4,220,875 (GRCm39)	missense	probably benign	0.01
R6373:Carns1	UTSW	19	4,216,515 (GRCm39)	missense	probably benign	0.41
R6411:Carns1	UTSW	19	4,216,463 (GRCm39)	missense	probably damaging	1.00
R6470:Carns1	UTSW	19	4,221,782 (GRCm39)	missense	possibly damaging	0.85
R6486:Carns1	UTSW	19	4,219,979 (GRCm39)	missense	probably benign	0.04
R6915:Carns1	UTSW	19	4,219,912 (GRCm39)	missense	probably benign	0.34
R6981:Carns1	UTSW	19	4,220,081 (GRCm39)	missense	probably benign	0.00
R7936:Carns1	UTSW	19	4,216,152 (GRCm39)	missense	probably benign
R8025:Carns1	UTSW	19	4,216,505 (GRCm39)	missense	probably damaging	1.00
R9279:Carns1	UTSW	19	4,216,256 (GRCm39)	missense	possibly damaging	0.51
R9711:Carns1	UTSW	19	4,216,007 (GRCm39)	missense	possibly damaging	0.94
R9725:Carns1	UTSW	19	4,216,548 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16