Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03124:Car13'

410113

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 #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

14706787-14728062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14722000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 182 (P182L)

Ref Sequence

ENSEMBL: ENSMUSP00000029071 (fasta)

Gene Model

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

AlphaFold

Q9D6N1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029071
AA Change: P182L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029071
Gene: ENSMUSG00000027555
AA Change: P182L

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,268,449 (GRCm39)		probably benign	Het
4931414P19Rik	A	G	14: 54,832,596 (GRCm39)	V193A	probably benign	Het
Acap3	T	C	4: 155,989,490 (GRCm39)	S645P	probably benign	Het
Alms1	A	G	6: 85,655,401 (GRCm39)	I3316V	probably benign	Het
Apc	T	G	18: 34,433,038 (GRCm39)	H424Q	probably damaging	Het
Camsap2	A	T	1: 136,202,537 (GRCm39)		probably null	Het
Ccdc87	T	G	19: 4,891,082 (GRCm39)	S525A	probably damaging	Het
Ces1f	T	C	8: 94,002,012 (GRCm39)	N39D	probably benign	Het
Cyp2j13	C	A	4: 95,950,159 (GRCm39)	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,904,786 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,035,701 (GRCm39)	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,926,803 (GRCm39)	V171M	probably damaging	Het
Hivep1	G	T	13: 42,312,380 (GRCm39)	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,385,258 (GRCm39)	D234G	unknown	Het
Igsf10	T	C	3: 59,227,086 (GRCm39)	T2196A	probably benign	Het
Kctd19	T	A	8: 106,113,702 (GRCm39)	Q657L	possibly damaging	Het
Klhl40	T	A	9: 121,609,751 (GRCm39)	I512N	probably damaging	Het
Lima1	A	T	15: 99,694,615 (GRCm39)		probably benign	Het
Map2k4	A	C	11: 65,581,617 (GRCm39)	I365S	probably damaging	Het
Mast4	T	A	13: 102,874,753 (GRCm39)	K1346N	probably damaging	Het
Met	T	A	6: 17,492,077 (GRCm39)	F280I	probably benign	Het
Ncapg	A	G	5: 45,828,551 (GRCm39)	T101A	probably benign	Het
Nup214	T	C	2: 31,886,452 (GRCm39)	F605L	probably benign	Het
Odr4	A	G	1: 150,262,176 (GRCm39)	V88A	probably benign	Het
Or51k1	G	T	7: 103,661,001 (GRCm39)	Q303K	probably benign	Het
Or5ae2	T	A	7: 84,505,931 (GRCm39)	M118K	probably damaging	Het
Or7e177	T	A	9: 20,212,459 (GRCm39)	M322K	probably benign	Het
Pck2	C	T	14: 55,782,790 (GRCm39)	T373I	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pecr	A	C	1: 72,316,499 (GRCm39)	S69A	probably benign	Het
Pgap6	G	A	17: 26,335,808 (GRCm39)	R65Q	probably damaging	Het
Pitpnb	A	G	5: 111,478,696 (GRCm39)	E6G	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Plbd2	A	T	5: 120,631,142 (GRCm39)	F212I	possibly damaging	Het
Rfk	T	A	19: 17,375,959 (GRCm39)	H84Q	possibly damaging	Het
Scp2	T	A	4: 107,921,103 (GRCm39)	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,619,895 (GRCm39)	T74A	probably damaging	Het
Spmip6	T	C	4: 41,507,287 (GRCm39)	N170D	possibly damaging	Het
St6galnac1	G	A	11: 116,666,125 (GRCm39)	A35V	probably benign	Het
Tasor2	A	T	13: 3,624,704 (GRCm39)	Y1749N	probably benign	Het
Trav17	T	C	14: 54,044,106 (GRCm39)	V4A	probably benign	Het
Vmn1r57	A	T	7: 5,224,021 (GRCm39)	H182L	possibly damaging	Het
Vwa8	A	T	14: 79,296,255 (GRCm39)		probably benign	Het
Zgpat	A	G	2: 181,007,973 (GRCm39)	Y170C	probably benign	Het

Other mutations in Car13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Car13	APN	3	14,721,964 (GRCm39)	splice site	probably benign
IGL01894:Car13	APN	3	14,726,525 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02