Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01099:Car10'

52286

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Car10

Ensembl Gene

ENSMUSG00000056158

Gene Name

carbonic anhydrase 10

Synonyms

CA-RP X, 2700029L05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

92988854-93492575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93469516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 164 (E164K)

Ref Sequence

ENSEMBL: ENSMUSP00000103495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107863]

AlphaFold

P61215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042943
AA Change: E164K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: E164K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	301	2.25e-86	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107858
AA Change: E140K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: E140K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	277	2.21e-71	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107863
AA Change: E164K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: E164K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	301	2.25e-86	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,965,031 (GRCm39)		probably benign	Het
Adam28	A	G	14: 68,874,778 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,367,411 (GRCm39)	I560M	probably benign	Het
Alpl	G	A	4: 137,470,624 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,598,265 (GRCm39)	G753D	probably damaging	Het
Arhgef28	A	T	13: 98,090,480 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,717,055 (GRCm39)	C329S	probably damaging	Het
Capn13	T	C	17: 73,658,504 (GRCm39)	D188G	probably damaging	Het
Cfhr1	T	A	1: 139,475,497 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,905,690 (GRCm39)	R562*	probably null	Het
Colec12	C	T	18: 9,848,826 (GRCm39)	R335C	probably damaging	Het
Cyb561d2	C	T	9: 107,417,488 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,517,188 (GRCm39)	D72G	possibly damaging	Het
Etl4	T	C	2: 20,811,922 (GRCm39)	L1335P	probably benign	Het
F5	T	G	1: 164,021,903 (GRCm39)	N1459K	probably damaging	Het
Fam161a	T	C	11: 22,965,894 (GRCm39)		probably benign	Het
Flnc	G	A	6: 29,433,617 (GRCm39)	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,517,966 (GRCm39)	I607V	probably benign	Het
Fscb	A	G	12: 64,518,875 (GRCm39)	S864P	unknown	Het
Glod4	T	A	11: 76,130,376 (GRCm39)	K36*	probably null	Het
Gm6619	G	A	6: 131,467,393 (GRCm39)	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,258,706 (GRCm39)		probably benign	Het
Gyg1	A	T	3: 20,205,211 (GRCm39)	M119K	probably benign	Het
Ifit2	A	T	19: 34,550,702 (GRCm39)	I81F	probably damaging	Het
Insr	T	C	8: 3,308,682 (GRCm39)	Y118C	probably damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Kcnh3	T	C	15: 99,137,617 (GRCm39)	S771P	probably benign	Het
Kndc1	C	A	7: 139,500,700 (GRCm39)	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,165,591 (GRCm39)	C330R	probably damaging	Het
Naa50	A	T	16: 43,976,832 (GRCm39)	N23I	probably damaging	Het
Nt5el	A	T	13: 105,245,868 (GRCm39)	H143L	probably benign	Het
Or55b4	T	A	7: 102,133,685 (GRCm39)	D214V	probably damaging	Het
Or5a1	A	G	19: 12,097,240 (GRCm39)	S279P	probably damaging	Het
Or8b48	T	C	9: 38,493,373 (GRCm39)	S267P	probably benign	Het
Or8c16	T	C	9: 38,131,039 (GRCm39)	S307P	probably benign	Het
Pfkp	A	T	13: 6,653,426 (GRCm39)		probably benign	Het
Phlda2	G	A	7: 143,055,876 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,946,906 (GRCm39)	V823L	probably benign	Het
Prpf40a	T	A	2: 53,031,847 (GRCm39)	H794L	probably benign	Het
Ripor2	A	T	13: 24,885,190 (GRCm39)	H436L	probably benign	Het
Rnf138	T	A	18: 21,153,970 (GRCm39)	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,514,582 (GRCm39)	V1064D	probably damaging	Het
Slc12a2	T	A	18: 58,039,092 (GRCm39)	C557*	probably null	Het
Slc1a6	T	C	10: 78,624,831 (GRCm39)	S79P	possibly damaging	Het
Snapin	G	A	3: 90,397,909 (GRCm39)		probably benign	Het
Tdp1	A	T	12: 99,881,704 (GRCm39)		probably benign	Het
Tigar	G	T	6: 127,065,108 (GRCm39)	A180E	probably benign	Het
Trav6-2	A	T	14: 52,905,122 (GRCm39)	T48S	probably benign	Het
Ttn	A	G	2: 76,558,776 (GRCm39)	Y29702H	probably damaging	Het
Ush1c	A	G	7: 45,854,686 (GRCm39)	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,691,578 (GRCm39)	I132F	probably damaging	Het
Vmn1r85	T	A	7: 12,818,461 (GRCm39)	K228*	probably null	Het
Wdr33	C	A	18: 32,039,842 (GRCm39)		probably benign	Het
Ybx2	A	T	11: 69,831,556 (GRCm39)	Q136L	probably damaging	Het
Ypel1	T	A	16: 16,909,076 (GRCm39)	M368L	probably damaging	Het

Other mutations in Car10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Car10	APN	11	93,195,483 (GRCm39)	splice site	probably benign
IGL01077:Car10	APN	11	93,487,969 (GRCm39)	missense	possibly damaging	0.54
IGL02810:Car10	APN	11	93,469,522 (GRCm39)	missense	probably damaging	1.00
IGL03037:Car10	APN	11	92,991,044 (GRCm39)	utr 5 prime	probably benign
IGL03061:Car10	APN	11	93,381,351 (GRCm39)	missense	probably damaging	0.98
IGL03105:Car10	APN	11	92,991,101 (GRCm39)	missense	probably benign	0.07
IGL03347:Car10	APN	11	92,991,122 (GRCm39)	splice site	probably benign
IGL02837:Car10	UTSW	11	93,488,077 (GRCm39)	missense	probably damaging	0.96
R0076:Car10	UTSW	11	93,381,423 (GRCm39)	missense	possibly damaging	0.93
R0076:Car10	UTSW	11	93,381,423 (GRCm39)	missense	possibly damaging	0.93
R0387:Car10	UTSW	11	93,473,847 (GRCm39)	critical splice donor site	probably null
R0511:Car10	UTSW	11	93,381,408 (GRCm39)	missense	probably damaging	1.00
R1372:Car10	UTSW	11	93,469,525 (GRCm39)	missense	probably benign	0.02
R4692:Car10	UTSW	11	93,075,984 (GRCm39)	critical splice donor site	probably null
R4799:Car10	UTSW	11	93,469,492 (GRCm39)	missense	possibly damaging	0.81
R5947:Car10	UTSW	11	93,381,439 (GRCm39)	missense	probably damaging	1.00
R6010:Car10	UTSW	11	93,490,149 (GRCm39)	missense	possibly damaging	0.52
R6013:Car10	UTSW	11	93,076,105 (GRCm39)	intron	probably benign
R7268:Car10	UTSW	11	93,490,077 (GRCm39)	missense	probably benign	0.26
R7995:Car10	UTSW	11	93,487,948 (GRCm39)	missense	probably damaging	0.99
R9717:Car10	UTSW	11	93,195,367 (GRCm39)	missense	probably benign	0.12
Z1191:Car10	UTSW	11	93,195,462 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21