Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02406:Slc4a10'

292081

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 #

IGL02406

Quality Score

Status

Chromosome

Chromosomal Location

61876806-62157074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62021113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 54 (V54M)

Ref Sequence

ENSEMBL: ENSMUSP00000061411 (fasta)

Gene Model

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

AlphaFold

Q5DTL9

Predicted Effect

probably benign
Transcript: ENSMUST00000054484
AA Change: V54M

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: V54M

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 benign
Transcript: ENSMUST00000102735
AA Change: V54M

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: V54M

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 benign
Transcript: ENSMUST00000112480
AA Change: V54M

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: V54M

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,139,825 (GRCm39)	A1496S	probably damaging	Het
Abra	A	T	15: 41,732,583 (GRCm39)	V161E	probably damaging	Het
Adcy4	G	A	14: 56,007,504 (GRCm39)	T942I	possibly damaging	Het
Atrip	A	G	9: 108,894,487 (GRCm39)	V480A	probably damaging	Het
Azin1	A	T	15: 38,491,809 (GRCm39)	D382E	probably benign	Het
BC034090	G	T	1: 155,100,899 (GRCm39)	A455E	probably benign	Het
Clstn1	A	G	4: 149,711,816 (GRCm39)	Y121C	probably damaging	Het
Cpq	T	A	15: 33,302,654 (GRCm39)	N268K	probably damaging	Het
Cpsf7	A	G	19: 10,509,352 (GRCm39)	S88G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2j11	G	A	4: 96,236,776 (GRCm39)	A10V	possibly damaging	Het
Dock4	T	C	12: 40,827,206 (GRCm39)	V983A	probably benign	Het
Dspp	G	T	5: 104,325,232 (GRCm39)	E532*	probably null	Het
Ercc4	G	T	16: 12,941,400 (GRCm39)	D243Y	probably damaging	Het
Fars2	C	A	13: 36,594,145 (GRCm39)	D383E	probably benign	Het
Fip1l1	A	G	5: 74,725,205 (GRCm39)	T280A	probably benign	Het
Gcgr	T	G	11: 120,428,010 (GRCm39)	N292K	probably damaging	Het
Gtpbp4	T	A	13: 9,041,786 (GRCm39)	K85M	possibly damaging	Het
Jhy	A	G	9: 40,822,285 (GRCm39)	Y618H	probably damaging	Het
Mbd4	A	T	6: 115,825,986 (GRCm39)	I314N	possibly damaging	Het
Mbtd1	C	T	11: 93,799,684 (GRCm39)	T70M	probably damaging	Het
Mki67	T	C	7: 135,300,522 (GRCm39)	H1504R	probably benign	Het
Mks1	T	C	11: 87,753,611 (GRCm39)	V515A	probably benign	Het
Msantd2	G	T	9: 37,434,755 (GRCm39)	V332L	probably damaging	Het
Myrip	A	T	9: 120,296,598 (GRCm39)	T836S	probably benign	Het
Nbea	T	C	3: 55,993,687 (GRCm39)	I238V	probably benign	Het
Plekhh1	T	C	12: 79,115,783 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,488,399 (GRCm39)	N507S	probably benign	Het
Prss12	G	A	3: 123,299,123 (GRCm39)	V632I	possibly damaging	Het
Puf60	A	G	15: 75,946,458 (GRCm39)	S121P	probably damaging	Het
Raet1e	G	A	10: 22,056,535 (GRCm39)	C37Y	probably damaging	Het
Ralgps2	G	T	1: 156,655,838 (GRCm39)	A362E	possibly damaging	Het
Scn1a	A	G	2: 66,156,380 (GRCm39)	S510P	possibly damaging	Het
Skap2	A	C	6: 51,851,453 (GRCm39)		probably null	Het
Spata17	A	G	1: 186,849,458 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,410,671 (GRCm39)	N128K	probably damaging	Het
Tatdn2	T	A	6: 113,681,174 (GRCm39)	S402R	probably benign	Het
Tmprss11f	A	G	5: 86,681,525 (GRCm39)	W243R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,709 (GRCm39)	Y155H	probably benign	Het
Vmn2r86	T	A	10: 130,284,508 (GRCm39)	T528S	possibly damaging	Het
Zfhx3	C	T	8: 109,682,374 (GRCm39)	A3271V	unknown	Het
Zkscan3	T	C	13: 21,572,348 (GRCm39)	N428S	possibly damaging	Het
Zxdc	A	G	6: 90,375,818 (GRCm39)	S765G	probably benign	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
IGL01294:Slc4a10	APN	2	62,083,653 (GRCm39)	critical splice acceptor site	probably null
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
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

2015-04-16