Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03144:Slc4a10'

410827

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 #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

61876806-62157074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62080810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 346 (V346L)

Ref Sequence

ENSEMBL: ENSMUSP00000108099 (fasta)

Gene Model

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

AlphaFold

Q5DTL9

Predicted Effect

probably benign
Transcript: ENSMUST00000054484
AA Change: V316L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: V316L

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: V316L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: V316L

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: V346L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: V346L

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,600,938 (GRCm39)	Q451K	probably benign	Het
Acly	A	T	11: 100,405,909 (GRCm39)	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,782,316 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,643,539 (GRCm39)	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,735,333 (GRCm39)	V467A	probably benign	Het
Ccdc171	A	T	4: 83,736,327 (GRCm39)	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,466,730 (GRCm39)	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,109,967 (GRCm39)	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,705,444 (GRCm39)	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,227,376 (GRCm39)	A2571S	probably damaging	Het
Cog2	T	C	8: 125,267,763 (GRCm39)	S360P	probably damaging	Het
Col26a1	G	T	5: 136,794,202 (GRCm39)	T132N	probably damaging	Het
Col6a2	T	A	10: 76,450,259 (GRCm39)	H224L	probably benign	Het
Cpm	C	T	10: 117,519,319 (GRCm39)	S409L	probably benign	Het
Dock4	G	T	12: 40,742,906 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,557,603 (GRCm39)	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,608,284 (GRCm39)	G126D	probably damaging	Het
Eya3	T	C	4: 132,420,453 (GRCm39)	S256P	probably benign	Het
Fat3	T	C	9: 16,286,541 (GRCm39)	D994G	probably damaging	Het
Fat4	A	G	3: 39,011,008 (GRCm39)	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,258,798 (GRCm39)	Q662R	probably null	Het
Gm13271	A	G	4: 88,673,636 (GRCm39)	R178G	probably benign	Het
Gpr165	T	A	X: 95,760,560 (GRCm39)	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,780,112 (GRCm39)	L328P	probably damaging	Het
Klhl26	C	T	8: 70,905,214 (GRCm39)	R198H	probably damaging	Het
Nhsl2	A	G	X: 101,123,115 (GRCm39)	R973G	possibly damaging	Het
Nmi	A	T	2: 51,842,546 (GRCm39)	F182Y	probably damaging	Het
Nop2	T	A	6: 125,114,475 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Ooep	G	T	9: 78,285,289 (GRCm39)	A109E	possibly damaging	Het
Or1j21	A	G	2: 36,684,093 (GRCm39)	T282A	probably benign	Het
Pan3	T	C	5: 147,387,591 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,459 (GRCm39)	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,430,544 (GRCm39)	R695H	probably damaging	Het
Rxrg	G	A	1: 167,426,327 (GRCm39)	G3R	possibly damaging	Het
Slc17a3	T	C	13: 24,030,423 (GRCm39)	M178T	probably benign	Het
Slc39a8	A	G	3: 135,589,971 (GRCm39)	E287G	probably benign	Het
Slc44a5	G	T	3: 153,949,177 (GRCm39)	D217Y	possibly damaging	Het
Slc9a4	T	C	1: 40,651,362 (GRCm39)	Y547H	probably damaging	Het
St6galnac3	A	C	3: 152,911,164 (GRCm39)	Y266D	probably damaging	Het
Stard6	A	T	18: 70,609,182 (GRCm39)	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,556,858 (GRCm39)	L53F	probably damaging	Het
Tep1	A	T	14: 51,081,474 (GRCm39)		probably benign	Het
Tmem151a	T	A	19: 5,135,400 (GRCm39)	M1L	probably benign	Het
Trim10	T	C	17: 37,187,740 (GRCm39)	S319P	probably damaging	Het
Trmt44	G	T	5: 35,721,766 (GRCm39)	P466T	probably benign	Het
Unc79	T	C	12: 103,008,401 (GRCm39)	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,702,314 (GRCm39)	L33F	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
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
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

2016-08-02