Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01294:Slc4a10'

73034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc4a10

Ensembl Gene

ENSMUSG00000026904

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter-like, member 10

Synonyms

NCBE

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01294

Quality Score

Status

Chromosome

Chromosomal Location

61876806-62157074 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to C at 62083653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054484] [ENSMUST00000102735] [ENSMUST00000112480]

AlphaFold

Q5DTL9

Predicted Effect

probably null
Transcript: ENSMUST00000054484

SMART Domains

Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904

Domain	Start	End	E-Value	Type
low complexity region	57	79	N/A	INTRINSIC
low complexity region	106	111	N/A	INTRINSIC
Pfam:Band_3_cyto	146	405	9e-107	PFAM
Pfam:HCO3_cotransp	445	959	1e-246	PFAM
transmembrane domain	967	989	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102735

SMART Domains

Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904

Domain	Start	End	E-Value	Type
low complexity region	57	79	N/A	INTRINSIC
low complexity region	106	111	N/A	INTRINSIC
Pfam:Band_3_cyto	146	405	2e-106	PFAM
Pfam:HCO3_cotransp	445	959	2.4e-246	PFAM
transmembrane domain	967	989	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112480

SMART Domains

Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904

Domain	Start	End	E-Value	Type
low complexity region	57	79	N/A	INTRINSIC
low complexity region	106	111	N/A	INTRINSIC
Pfam:Band_3_cyto	146	435	9.6e-108	PFAM
Pfam:HCO3_cotransp	476	989	1.5e-245	PFAM
transmembrane domain	997	1019	N/A	INTRINSIC
low complexity region	1041	1055	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155219

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 belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
PHENOTYPE: Mice with homozygous disruption of this gene exhibit reduced brain ventricle volume, reduced neuronal excitability, impaired pH regulation of neurons, and increased threshold to induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,291 (GRCm39)	S101T	probably benign	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arglu1	G	T	8: 8,733,739 (GRCm39)		probably benign	Het
Cacna2d2	T	G	9: 107,391,280 (GRCm39)	Y436D	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cpne8	G	A	15: 90,385,648 (GRCm39)	S460L	probably damaging	Het
Crat	G	A	2: 30,295,199 (GRCm39)	A436V	probably damaging	Het
Dmd	T	C	X: 83,475,604 (GRCm39)		probably null	Het
Emilin2	G	T	17: 71,581,589 (GRCm39)	A379E	probably benign	Het
Ercc2	A	G	7: 19,124,342 (GRCm39)	I445V	probably benign	Het
Evc2	T	C	5: 37,504,854 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,392,711 (GRCm39)	K1100*	probably null	Het
Gm4353	T	A	7: 115,683,077 (GRCm39)	D168V	possibly damaging	Het
Hsf4	G	T	8: 106,002,289 (GRCm39)	*417L	probably null	Het
Kmt2a	A	G	9: 44,731,594 (GRCm39)		probably benign	Het
Macroh2a1	A	T	13: 56,222,113 (GRCm39)	V346E	probably damaging	Het
Mpzl1	A	G	1: 165,421,177 (GRCm39)	S261P	probably damaging	Het
Mre11a	T	C	9: 14,742,211 (GRCm39)	S621P	probably damaging	Het
Muc6	T	C	7: 141,232,926 (GRCm39)	Y934C	probably damaging	Het
Naip5	A	G	13: 100,353,588 (GRCm39)	S1224P	probably damaging	Het
Nwd1	A	T	8: 73,438,373 (GRCm39)	N1474Y	probably damaging	Het
Or2ag20	T	C	7: 106,464,970 (GRCm39)	L261S	probably damaging	Het
Ptbp2	A	G	3: 119,541,461 (GRCm39)	V192A	probably damaging	Het
Rfx2	T	C	17: 57,090,657 (GRCm39)	Y421C	probably damaging	Het
Sfmbt2	T	A	2: 10,595,232 (GRCm39)		probably benign	Het
Slitrk6	T	C	14: 110,987,506 (GRCm39)	M734V	probably benign	Het
Tap1	T	C	17: 34,413,019 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,067,114 (GRCm39)		probably benign	Het
Uba6	T	A	5: 86,297,907 (GRCm39)	I256L	possibly damaging	Het
Wnt3	A	T	11: 103,699,140 (GRCm39)	H82L	possibly damaging	Het

Other mutations in Slc4a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Slc4a10	APN	2	62,120,345 (GRCm39)	missense	probably damaging	1.00
IGL00990:Slc4a10	APN	2	62,117,284 (GRCm39)	missense	probably damaging	1.00
IGL01628:Slc4a10	APN	2	62,099,010 (GRCm39)	missense	probably damaging	1.00
IGL01773:Slc4a10	APN	2	62,021,101 (GRCm39)	missense	probably damaging	0.97
IGL02119:Slc4a10	APN	2	62,059,014 (GRCm39)	missense	probably damaging	1.00
IGL02125:Slc4a10	APN	2	62,098,515 (GRCm39)	missense	probably benign	0.02
IGL02406:Slc4a10	APN	2	62,021,113 (GRCm39)	missense	probably benign	0.37
IGL02890:Slc4a10	APN	2	62,117,260 (GRCm39)	missense	probably damaging	1.00
IGL02959:Slc4a10	APN	2	62,098,487 (GRCm39)	missense	probably damaging	1.00
IGL02979:Slc4a10	APN	2	62,119,091 (GRCm39)	missense	probably null	1.00
IGL03144:Slc4a10	APN	2	62,080,810 (GRCm39)	missense	probably benign	0.00
IGL03175:Slc4a10	APN	2	62,127,304 (GRCm39)	missense	probably damaging	0.99
IGL03383:Slc4a10	APN	2	62,097,780 (GRCm39)	missense	probably damaging	1.00
IGL03412:Slc4a10	APN	2	62,080,887 (GRCm39)	splice site	probably benign
R0085:Slc4a10	UTSW	2	62,074,690 (GRCm39)	splice site	probably benign
R0401:Slc4a10	UTSW	2	62,021,192 (GRCm39)	missense	probably benign	0.27
R0433:Slc4a10	UTSW	2	62,120,327 (GRCm39)	missense	probably benign	0.01
R0482:Slc4a10	UTSW	2	62,127,361 (GRCm39)	splice site	probably benign
R0506:Slc4a10	UTSW	2	62,080,877 (GRCm39)	missense	probably benign	0.13
R0511:Slc4a10	UTSW	2	62,117,206 (GRCm39)	missense	probably damaging	0.97
R0590:Slc4a10	UTSW	2	62,021,237 (GRCm39)	splice site	probably benign
R0883:Slc4a10	UTSW	2	62,073,742 (GRCm39)	missense	probably benign	0.11
R1167:Slc4a10	UTSW	2	62,058,918 (GRCm39)	missense	probably damaging	1.00
R1276:Slc4a10	UTSW	2	62,080,787 (GRCm39)	missense	probably damaging	0.99
R1395:Slc4a10	UTSW	2	62,143,630 (GRCm39)	missense	probably benign	0.00
R1455:Slc4a10	UTSW	2	62,117,274 (GRCm39)	missense	probably damaging	1.00
R1589:Slc4a10	UTSW	2	62,087,806 (GRCm39)	missense	probably damaging	1.00
R1677:Slc4a10	UTSW	2	62,155,071 (GRCm39)	missense	probably benign
R1848:Slc4a10	UTSW	2	62,146,950 (GRCm39)	missense	probably damaging	1.00
R1987:Slc4a10	UTSW	2	62,098,548 (GRCm39)	missense	probably damaging	1.00
R1988:Slc4a10	UTSW	2	62,098,548 (GRCm39)	missense	probably damaging	1.00
R2018:Slc4a10	UTSW	2	62,064,725 (GRCm39)	missense	probably damaging	1.00
R2019:Slc4a10	UTSW	2	62,064,725 (GRCm39)	missense	probably damaging	1.00
R2407:Slc4a10	UTSW	2	62,143,687 (GRCm39)	missense	probably benign
R4067:Slc4a10	UTSW	2	61,876,989 (GRCm39)	start codon destroyed	probably benign	0.00
R4184:Slc4a10	UTSW	2	62,147,786 (GRCm39)	intron	probably benign
R4255:Slc4a10	UTSW	2	62,112,280 (GRCm39)	missense	probably benign	0.10
R4282:Slc4a10	UTSW	2	62,074,687 (GRCm39)	splice site	probably null
R4296:Slc4a10	UTSW	2	62,064,772 (GRCm39)	missense	possibly damaging	0.80
R4361:Slc4a10	UTSW	2	62,073,729 (GRCm39)	missense	probably benign	0.00
R4596:Slc4a10	UTSW	2	62,127,202 (GRCm39)	missense	probably damaging	1.00
R4709:Slc4a10	UTSW	2	62,087,861 (GRCm39)	missense	probably null	1.00
R4755:Slc4a10	UTSW	2	62,127,332 (GRCm39)	missense	probably damaging	1.00
R4836:Slc4a10	UTSW	2	62,098,531 (GRCm39)	missense	probably damaging	1.00
R4841:Slc4a10	UTSW	2	62,087,939 (GRCm39)	missense	possibly damaging	0.68
R4998:Slc4a10	UTSW	2	62,074,783 (GRCm39)	missense	probably benign	0.00
R5069:Slc4a10	UTSW	2	62,097,915 (GRCm39)	missense	probably benign	0.06
R5223:Slc4a10	UTSW	2	62,083,710 (GRCm39)	missense	probably damaging	1.00
R5244:Slc4a10	UTSW	2	62,119,069 (GRCm39)	missense	probably damaging	1.00
R5386:Slc4a10	UTSW	2	62,120,402 (GRCm39)	missense	probably damaging	1.00
R5808:Slc4a10	UTSW	2	62,080,816 (GRCm39)	missense	probably damaging	1.00
R5999:Slc4a10	UTSW	2	62,073,775 (GRCm39)	missense	probably benign	0.10
R6007:Slc4a10	UTSW	2	62,099,216 (GRCm39)	missense	probably benign	0.44
R6009:Slc4a10	UTSW	2	61,877,034 (GRCm39)	missense	probably benign	0.00
R6015:Slc4a10	UTSW	2	62,059,046 (GRCm39)	missense	probably benign	0.05
R6103:Slc4a10	UTSW	2	62,064,809 (GRCm39)	missense	probably damaging	1.00
R6141:Slc4a10	UTSW	2	62,041,789 (GRCm39)	missense	probably damaging	1.00
R6193:Slc4a10	UTSW	2	62,073,701 (GRCm39)	splice site	probably null
R6217:Slc4a10	UTSW	2	62,134,295 (GRCm39)	missense	probably benign	0.27
R6280:Slc4a10	UTSW	2	62,112,310 (GRCm39)	missense	probably benign	0.05
R6523:Slc4a10	UTSW	2	62,117,305 (GRCm39)	nonsense	probably null
R6643:Slc4a10	UTSW	2	62,059,054 (GRCm39)	missense	possibly damaging	0.96
R6660:Slc4a10	UTSW	2	62,080,747 (GRCm39)	missense	possibly damaging	0.55
R7008:Slc4a10	UTSW	2	62,117,266 (GRCm39)	missense	probably benign	0.00
R7083:Slc4a10	UTSW	2	62,064,839 (GRCm39)	missense	probably benign	0.03
R7223:Slc4a10	UTSW	2	62,099,009 (GRCm39)	missense	probably damaging	0.99
R7243:Slc4a10	UTSW	2	62,134,206 (GRCm39)	missense	probably damaging	1.00
R7449:Slc4a10	UTSW	2	62,134,290 (GRCm39)	missense	probably benign
R7621:Slc4a10	UTSW	2	62,080,823 (GRCm39)	missense	probably damaging	0.98
R7692:Slc4a10	UTSW	2	62,134,308 (GRCm39)	missense	possibly damaging	0.94
R7742:Slc4a10	UTSW	2	62,127,194 (GRCm39)	missense	probably damaging	1.00
R7905:Slc4a10	UTSW	2	62,098,495 (GRCm39)	missense	probably damaging	1.00
R8179:Slc4a10	UTSW	2	62,073,792 (GRCm39)	missense	possibly damaging	0.64
R8528:Slc4a10	UTSW	2	62,127,140 (GRCm39)	missense	possibly damaging	0.79
R8531:Slc4a10	UTSW	2	62,097,851 (GRCm39)	missense	probably damaging	1.00
R8772:Slc4a10	UTSW	2	62,134,284 (GRCm39)	missense	probably damaging	1.00
R9307:Slc4a10	UTSW	2	62,083,662 (GRCm39)	missense	probably damaging	1.00
R9531:Slc4a10	UTSW	2	62,099,154 (GRCm39)	missense	probably damaging	1.00
R9732:Slc4a10	UTSW	2	62,135,086 (GRCm39)	missense	probably damaging	0.97
U24488:Slc4a10	UTSW	2	61,877,002 (GRCm39)	missense	probably benign	0.05
X0019:Slc4a10	UTSW	2	62,058,943 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc4a10	UTSW	2	62,058,915 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc4a10	UTSW	2	62,074,760 (GRCm39)	missense	probably benign
Z1176:Slc4a10	UTSW	2	62,041,723 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07