Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00338:Car13'

6929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Car13

Ensembl Gene

ENSMUSG00000027555

Gene Name

carbonic anhydrase 13

Synonyms

2310075C21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00338

Quality Score

Status

Chromosome

Chromosomal Location

14706787-14728062 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 14721964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029071]

AlphaFold

Q9D6N1

Predicted Effect

probably benign
Transcript: ENSMUST00000029071

SMART Domains

Protein: ENSMUSP00000029071
Gene: ENSMUSG00000027555

Domain	Start	End	E-Value	Type
Carb_anhydrase	6	261	1.91e-139	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	A	G	5: 135,040,839 (GRCm39)	D217G	probably benign	Het
Ankar	T	A	1: 72,729,290 (GRCm39)	Y285F	probably damaging	Het
Ano8	C	A	8: 71,936,902 (GRCm39)		probably benign	Het
Bche	A	G	3: 73,608,640 (GRCm39)	V262A	probably benign	Het
Cd244a	T	A	1: 171,401,938 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,671,395 (GRCm39)	D137G	probably damaging	Het
Cobl	T	C	11: 12,325,813 (GRCm39)	R119G	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gp2	A	G	7: 119,053,613 (GRCm39)	M116T	probably damaging	Het
Gp5	C	A	16: 30,127,640 (GRCm39)	A345S	probably benign	Het
Gphn	A	T	12: 78,551,406 (GRCm39)	I285F	probably damaging	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Hecw2	T	C	1: 53,867,040 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,296,434 (GRCm39)	N3654K	possibly damaging	Het
Inpp5b	A	G	4: 124,678,168 (GRCm39)	Y440C	possibly damaging	Het
Or4a47	A	T	2: 89,665,802 (GRCm39)	Y162*	probably null	Het
Pphln1	A	G	15: 93,363,091 (GRCm39)	K306E	probably damaging	Het
Rnf26	A	C	9: 44,024,156 (GRCm39)	S31A	probably benign	Het
Ros1	A	T	10: 52,001,907 (GRCm39)	S1072T	probably benign	Het
Skic2	A	G	17: 35,065,643 (GRCm39)	W304R	probably damaging	Het
Slc22a14	A	G	9: 119,007,579 (GRCm39)	F277L	possibly damaging	Het
Slc22a26	A	T	19: 7,760,340 (GRCm39)	L468I	probably benign	Het
Tchh	C	T	3: 93,354,951 (GRCm39)	L1464F	unknown	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	A	G	2: 76,804,409 (GRCm39)	S288P	probably damaging	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vps50	C	T	6: 3,602,670 (GRCm39)	T929M	probably benign	Het
Zdhhc8	A	G	16: 18,043,060 (GRCm39)	L380P	possibly damaging	Het

Other mutations in Car13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Car13	APN	3	14,726,525 (GRCm39)	missense	probably damaging	1.00
IGL03124:Car13	APN	3	14,722,000 (GRCm39)	missense	possibly damaging	0.75
R0374:Car13	UTSW	3	14,721,357 (GRCm39)	splice site	probably benign
R0396:Car13	UTSW	3	14,721,299 (GRCm39)	missense	probably benign
R1087:Car13	UTSW	3	14,706,885 (GRCm39)	nonsense	probably null
R1143:Car13	UTSW	3	14,721,328 (GRCm39)	missense	probably benign
R1566:Car13	UTSW	3	14,715,758 (GRCm39)	missense	probably benign	0.03
R1769:Car13	UTSW	3	14,715,795 (GRCm39)	missense	probably benign
R1896:Car13	UTSW	3	14,710,235 (GRCm39)	missense	probably benign	0.00
R4757:Car13	UTSW	3	14,726,615 (GRCm39)	missense	probably damaging	1.00
R5645:Car13	UTSW	3	14,710,180 (GRCm39)	missense	possibly damaging	0.89
R5699:Car13	UTSW	3	14,715,749 (GRCm39)	missense	probably damaging	1.00
R5810:Car13	UTSW	3	14,706,828 (GRCm39)	splice site	probably null
R7161:Car13	UTSW	3	14,710,268 (GRCm39)	missense	probably benign
R7794:Car13	UTSW	3	14,719,948 (GRCm39)	missense	probably damaging	1.00
RF002:Car13	UTSW	3	14,719,974 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20