Mutagenetix > Incidental Mutation

Incidental Mutation 'R8528:Slc4a10'

658885

Institutional Source

Beutler Lab

Gene Symbol

Slc4a10

Ensembl Gene

ENSMUSG00000026904

Gene Name

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

Synonyms

NCBE

MMRRC Submission

068498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61876806-62157074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62127140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 831 (V831A)

Ref Sequence

ENSEMBL: ENSMUSP00000061411 (fasta)

Gene Model

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

AlphaFold

Q5DTL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054484
AA Change: V831A

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: V831A

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

possibly damaging
Transcript: ENSMUST00000102735
AA Change: V831A

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: V831A

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

possibly damaging
Transcript: ENSMUST00000112480
AA Change: V861A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: V861A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (40/40)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,447,700 (GRCm39)	I169L	possibly damaging	Het
Ahnak	A	T	19: 8,985,092 (GRCm39)	K2125N	probably damaging	Het
Arl5b	T	A	2: 15,078,138 (GRCm39)		probably null	Het
Ccng2	T	C	5: 93,417,164 (GRCm39)	V60A	possibly damaging	Het
Cfap65	A	G	1: 74,945,096 (GRCm39)	V1442A	possibly damaging	Het
Cyp1b1	T	A	17: 80,017,993 (GRCm39)	E387D	probably damaging	Het
Dchs2	T	C	3: 83,261,918 (GRCm39)	S2729P	probably damaging	Het
Dnah11	A	G	12: 117,972,538 (GRCm39)	F2882S	probably damaging	Het
Dpy30	T	C	17: 74,606,757 (GRCm39)	D97G	probably benign	Het
Enam	T	A	5: 88,650,078 (GRCm39)	V454E	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Ero1b	T	A	13: 12,614,757 (GRCm39)	C240*	probably null	Het
Exog	A	G	9: 119,291,686 (GRCm39)	D297G	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fer1l5	A	G	1: 36,456,855 (GRCm39)	Y1611C	possibly damaging	Het
Firrm	T	C	1: 163,813,652 (GRCm39)	K191E	probably damaging	Het
Frmpd1	T	C	4: 45,285,034 (GRCm39)	V1285A	probably benign	Het
Gfpt1	G	C	6: 87,043,770 (GRCm39)		probably null	Het
Gm15446	T	C	5: 110,090,896 (GRCm39)	Y383H	possibly damaging	Het
Gsdmc	A	T	15: 63,649,189 (GRCm39)		probably null	Het
Hao1	A	G	2: 134,364,913 (GRCm39)	I238T	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kcnv2	T	A	19: 27,300,387 (GRCm39)	D79E	probably benign	Het
Lrrc8a	T	C	2: 30,145,557 (GRCm39)	Y124H	probably damaging	Het
Lrrc8d	T	A	5: 105,960,352 (GRCm39)	M254K	probably benign	Het
Map3k4	T	C	17: 12,451,821 (GRCm39)	N1489S	probably damaging	Het
Mapk8ip2	A	G	15: 89,339,422 (GRCm39)	D34G	probably damaging	Het
Myo9a	A	G	9: 59,767,423 (GRCm39)	T876A	probably damaging	Het
Pabpc2	C	T	18: 39,908,439 (GRCm39)	T568I	probably benign	Het
Pcdhga2	G	T	18: 37,802,221 (GRCm39)	A22S	probably benign	Het
Rc3h2	G	A	2: 37,272,811 (GRCm39)	T755I	probably benign	Het
Sertad4	A	G	1: 192,533,391 (GRCm39)	V15A	probably benign	Het
Slc28a2	A	G	2: 122,286,223 (GRCm39)	K520E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag17	A	T	3: 100,031,501 (GRCm39)	I2255F	possibly damaging	Het
Sprn	C	T	7: 139,733,423 (GRCm39)		probably benign	Het
Stim1	T	C	7: 102,080,289 (GRCm39)		probably benign	Het
Stk24	C	A	14: 121,529,447 (GRCm39)	A402S	probably benign	Het
Sycp2	A	G	2: 178,016,326 (GRCm39)	L712P	probably damaging	Het
Tenm3	C	T	8: 48,795,668 (GRCm39)	G269S	probably damaging	Het
Zdbf2	A	G	1: 63,342,545 (GRCm39)	E308G	possibly damaging	Het
Zfp442	A	C	2: 150,250,962 (GRCm39)	H312Q	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAGCACGTTATGGTAGAC -3'
(R):5'- TGCTGGTCATGAAAACGGATG -3'

Sequencing Primer
(F):5'- AGCACGTTATGGTAGACAGTATC -3'
(R):5'- CTGGTCATGAAAACGGATGAACCC -3'

Posted On

2021-01-18