Mutagenetix > Incidental Mutation

Incidental Mutation 'R7692:Slc4a10'

593435

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

045756-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61876806-62157074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62134308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1008 (V1008A)

Ref Sequence

ENSEMBL: ENSMUSP00000108099 (fasta)

Gene Model

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

AlphaFold

Q5DTL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054484
AA Change: V978A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: V978A

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: V978A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: V978A

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: V1008A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: V1008A

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,973,832 (GRCm39)	T390I	probably benign	Het
Adgb	A	G	10: 10,287,456 (GRCm39)		probably null	Het
Ado	G	T	10: 67,384,265 (GRCm39)	Y113*	probably null	Het
Angptl1	A	G	1: 156,672,885 (GRCm39)	E237G	probably damaging	Het
Arid2	T	A	15: 96,254,578 (GRCm39)	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739 (GRCm39)	I183T	probably benign	Het
Dnah1	T	C	14: 31,014,295 (GRCm39)	K1817E	probably benign	Het
Eif3e	C	A	15: 43,126,642 (GRCm39)	R271L	probably damaging	Het
Eml6	A	G	11: 29,703,085 (GRCm39)	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,660,739 (GRCm39)	Y634*	probably null	Het
Evi5l	C	T	8: 4,250,886 (GRCm39)	R394W	probably damaging	Het
Fcgr3	A	C	1: 170,881,661 (GRCm39)	F156V	probably damaging	Het
Fmo1	T	A	1: 162,661,402 (GRCm39)	T294S	probably benign	Het
Gabrb3	A	G	7: 57,466,203 (GRCm39)	Q339R	probably damaging	Het
Gen1	T	A	12: 11,292,167 (GRCm39)	T606S	probably benign	Het
Gfod1	T	C	13: 43,354,528 (GRCm39)	Q149R	probably benign	Het
Golm1	A	G	13: 59,788,071 (GRCm39)	V276A	probably benign	Het
Hc	C	A	2: 34,914,161 (GRCm39)	V849F	probably damaging	Het
Hectd4	T	C	5: 121,459,627 (GRCm39)	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,497,643 (GRCm39)	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,541,536 (GRCm39)	W94*	probably null	Het
Lzts3	T	C	2: 130,477,306 (GRCm39)	S381G	probably benign	Het
Mgat2	A	G	12: 69,231,444 (GRCm39)	Y6C	probably damaging	Het
Mrpl30	T	C	1: 37,934,439 (GRCm39)	I27T	probably benign	Het
Muc5b	A	T	7: 141,406,966 (GRCm39)	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,148,690 (GRCm39)	R99Q	probably benign	Het
Or10g1	T	C	14: 52,647,945 (GRCm39)	Y128C	probably damaging	Het
Or5b98	A	G	19: 12,931,006 (GRCm39)	T18A	possibly damaging	Het
Phlpp1	T	C	1: 106,209,132 (GRCm39)	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,109,776 (GRCm39)	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,333,997 (GRCm39)	L167V	probably damaging	Het
Sardh	A	G	2: 27,087,651 (GRCm39)	V740A	probably benign	Het
Sbno1	T	G	5: 124,543,709 (GRCm39)	T277P	probably benign	Het
Slc2a1	T	C	4: 118,993,462 (GRCm39)	V433A	probably damaging	Het
Smarcal1	T	G	1: 72,625,179 (GRCm39)	S109A	probably benign	Het
Speg	A	G	1: 75,377,834 (GRCm39)	D864G	probably benign	Het
Steap4	T	C	5: 8,026,976 (GRCm39)	I313T	probably benign	Het
Tab2	A	T	10: 7,786,869 (GRCm39)	D614E	probably damaging	Het
Tenm4	A	G	7: 96,544,610 (GRCm39)	K2246E	probably damaging	Het
Timm23	A	G	14: 31,902,520 (GRCm39)	S208P	probably damaging	Het
Tmem229a	C	A	6: 24,955,211 (GRCm39)	C181F	probably benign	Het
Ugdh	T	C	5: 65,574,958 (GRCm39)	Y356C	probably damaging	Het
Ugt2a1	A	G	5: 87,634,586 (GRCm39)	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,619,905 (GRCm39)	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,804,827 (GRCm39)	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,505,490 (GRCm39)	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,283,141 (GRCm39)	P72L	not run	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
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

Predicted Primers

PCR Primer
(F):5'- GATGCAATCTACCGTCTGTTTAATC -3'
(R):5'- TAGCTACTGCATTATGGATGGC -3'

Sequencing Primer
(F):5'- TCTATCTAAGGCACGTGC -3'
(R):5'- CAAACAACCTTAGATGATACCAGAG -3'

Posted On

2019-11-12