Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Car10'

408762

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 #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

92988854-93492575 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 92991044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107859] [ENSMUST00000107861] [ENSMUST00000107863]

AlphaFold

P61215

Predicted Effect

probably benign
Transcript: ENSMUST00000042943

SMART Domains

Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000092780

SMART Domains

Protein: ENSMUSP00000090455
Gene: ENSMUSG00000056158

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107858

SMART Domains

Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107859

SMART Domains

Protein: ENSMUSP00000103491
Gene: ENSMUSG00000056158

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:Carb_anhydrase	33	98	8e-40	BLAST
SCOP:d2znc__	33	99	1e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107861

SMART Domains

Protein: ENSMUSP00000103493
Gene: ENSMUSG00000056158

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	33	169	2.14e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107863

SMART Domains

Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149611

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	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
IGL01099:Car10	APN	11	93,469,516 (GRCm39)	missense	possibly damaging	0.91
IGL02810:Car10	APN	11	93,469,522 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02