Mutagenetix > Incidental Mutation

Incidental Mutation 'R8772:Slc4a10'

664437

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

068626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62046462-62326730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62303940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1000 (I1000N)

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: I970N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: I970N

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 damaging
Transcript: ENSMUST00000102735
AA Change: I970N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: I970N

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 damaging
Transcript: ENSMUST00000112480
AA Change: I1000N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: I1000N

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: 99.4%
20x: 97.8%

Validation Efficiency

100% (83/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,977	V574A	probably benign	Het
AC157566.4	T	C	15: 76,534,249	Y20C	probably benign	Het
Acacb	A	T	5: 114,184,118	D231V	possibly damaging	Het
Acp7	C	T	7: 28,616,484	V226M	probably damaging	Het
Actr1a	A	G	19: 46,382,292		probably null	Het
Adamts16	T	C	13: 70,836,334	Y70C	probably damaging	Het
Adcy5	G	A	16: 35,299,588	A1156T	probably damaging	Het
Ago1	A	T	4: 126,460,523		probably benign	Het
Akap9	G	A	5: 4,046,255	E2377K	probably damaging	Het
Asic2	A	G	11: 81,967,887	S100P	probably benign	Het
Atp1a1	A	C	3: 101,579,808	V895G	probably benign	Het
B3gnt7	A	G	1: 86,305,572	E180G	possibly damaging	Het
Cacna1c	A	T	6: 118,602,322	F1805I		Het
Cacna1g	A	G	11: 94,465,887	I141T	probably benign	Het
Ccdc162	A	G	10: 41,630,037	L919P	probably damaging	Het
Cd47	A	G	16: 49,884,212	I116V		Het
Cdca2	A	T	14: 67,698,080	D395E	probably damaging	Het
Celsr2	A	T	3: 108,397,073	I2285N	possibly damaging	Het
Chil5	T	C	3: 106,018,220	D157G	probably damaging	Het
Ciita	A	T	16: 10,480,162	I7F	probably damaging	Het
Dok7	G	T	5: 35,077,249	G215C	probably damaging	Het
Eif2s2	T	C	2: 154,887,739	I88V	probably null	Het
Fasn	A	T	11: 120,820,536	D217E	probably benign	Het
Fgd5	T	A	6: 92,050,419	I1030N	probably damaging	Het
Fpr-rs6	T	A	17: 20,182,233	N289Y	probably damaging	Het
Gm10392	C	T	11: 77,518,454	V49I	possibly damaging	Het
Gtf3c2	A	T	5: 31,174,414	M20K	probably benign	Het
Hoga1	A	G	19: 42,045,945	M10V	probably benign	Het
Homer1	T	A	13: 93,391,731	V258E	probably damaging	Het
Ifitm2	A	G	7: 140,955,890	L9S	probably benign	Het
Iqgap3	G	A	3: 88,089,837	A176T	probably benign	Het
Itga8	C	G	2: 12,182,684	G728A	probably damaging	Het
Lyst	C	T	13: 13,637,492	Q830*	probably null	Het
Macc1	T	C	12: 119,447,485	W663R	probably damaging	Het
Mipol1	A	T	12: 57,325,632	H159L	probably benign	Het
Mocs1	T	A	17: 49,450,374		probably null	Het
Ncoa1	T	C	12: 4,322,940	T154A	possibly damaging	Het
Noxred1	A	C	12: 87,227,093	L58R	probably benign	Het
Olfr205	A	G	16: 59,328,688	S274P	probably damaging	Het
Olfr78	G	A	7: 102,743,003		probably benign	Het
Olfr895	G	A	9: 38,268,935	V133I	probably benign	Het
Opcml	T	C	9: 27,791,411	V9A	probably benign	Het
Otog	A	T	7: 46,284,928	R1303S	probably damaging	Het
Parp11	T	A	6: 127,470,763	M20K	possibly damaging	Het
Parp11	T	A	6: 127,491,704	I322N	probably damaging	Het
Pde1b	T	C	15: 103,525,121		probably benign	Het
Pglyrp4	A	T	3: 90,740,400	T356S	possibly damaging	Het
Pitrm1	A	G	13: 6,578,560	D963G	probably damaging	Het
Plod3	T	C	5: 136,988,919	V183A	probably damaging	Het
Plxnb2	C	T	15: 89,162,746	V791M	probably damaging	Het
Poc1b	T	A	10: 99,156,357		probably benign	Het
Ppp1r7	A	G	1: 93,354,428	T234A	probably benign	Het
Pxdn	C	T	12: 30,015,464	T1441I	probably damaging	Het
Rap1gap2	T	C	11: 74,405,725	K479E	probably damaging	Het
Rars2	A	G	4: 34,623,488	D63G	probably benign	Het
Rptor	A	C	11: 119,725,032	D124A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr1	C	A	7: 29,116,132	R118L	probably benign	Het
Sap130	G	C	18: 31,680,464	D525H	probably damaging	Het
Slc22a26	T	C	19: 7,790,112	N310D	probably benign	Het
Slc46a1	T	G	11: 78,465,951	N58K	probably benign	Het
Son	C	T	16: 91,657,938	T1191I	possibly damaging	Het
Sppl2a	T	C	2: 126,926,311	K146E	probably benign	Het
Srgap3	T	A	6: 112,766,945	K444I	probably damaging	Het
Sun1	T	C	5: 139,223,692	V59A	probably benign	Het
Sva	T	A	6: 42,038,509	Y37N	probably benign	Het
Taar8c	T	A	10: 24,101,807	M36L	probably benign	Het
Taf4b	C	T	18: 14,835,852	T682I	probably damaging	Het
Tbx5	T	A	5: 119,838,725	H59Q	probably benign	Het
Tdrd1	A	T	19: 56,855,328	Y746F	probably damaging	Het
Tmem132e	A	G	11: 82,434,311	S46G	probably damaging	Het
Tnfaip6	T	A	2: 52,051,065	V206E	possibly damaging	Het
Tpbpb	T	A	13: 60,901,379		probably benign	Het
Ttn	T	A	2: 76,937,681	K3025*	probably null	Het
Tulp4	T	A	17: 6,176,893	I106N	probably damaging	Het
Ubp1	T	A	9: 113,972,829	F454Y	probably benign	Het
Ugt2b37	A	T	5: 87,254,486	N95K	probably benign	Het
Vps13d	T	A	4: 145,075,032	R3539W		Het
Vsnl1	T	C	12: 11,332,179	H67R	probably damaging	Het
Zbbx	A	G	3: 75,155,385	Y22H	probably benign	Het
Zeb1	A	G	18: 5,770,382		probably null	Het
Zfp142	A	T	1: 74,571,666	L990Q	possibly damaging	Het
Zmiz1	G	A	14: 25,645,694	G265D	probably damaging	Het

Other mutations in Slc4a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Slc4a10	APN	2	62290001	missense	probably damaging	1.00
IGL00990:Slc4a10	APN	2	62286940	missense	probably damaging	1.00
IGL01294:Slc4a10	APN	2	62253309	critical splice acceptor site	probably null
IGL01628:Slc4a10	APN	2	62268666	missense	probably damaging	1.00
IGL01773:Slc4a10	APN	2	62190757	missense	probably damaging	0.97
IGL02119:Slc4a10	APN	2	62228670	missense	probably damaging	1.00
IGL02125:Slc4a10	APN	2	62268171	missense	probably benign	0.02
IGL02406:Slc4a10	APN	2	62190769	missense	probably benign	0.37
IGL02890:Slc4a10	APN	2	62286916	missense	probably damaging	1.00
IGL02959:Slc4a10	APN	2	62268143	missense	probably damaging	1.00
IGL02979:Slc4a10	APN	2	62288747	missense	probably null	1.00
IGL03144:Slc4a10	APN	2	62250466	missense	probably benign	0.00
IGL03175:Slc4a10	APN	2	62296960	missense	probably damaging	0.99
IGL03383:Slc4a10	APN	2	62267436	missense	probably damaging	1.00
IGL03412:Slc4a10	APN	2	62250543	splice site	probably benign
R0085:Slc4a10	UTSW	2	62244346	splice site	probably benign
R0401:Slc4a10	UTSW	2	62190848	missense	probably benign	0.27
R0433:Slc4a10	UTSW	2	62289983	missense	probably benign	0.01
R0482:Slc4a10	UTSW	2	62297017	splice site	probably benign
R0506:Slc4a10	UTSW	2	62250533	missense	probably benign	0.13
R0511:Slc4a10	UTSW	2	62286862	missense	probably damaging	0.97
R0590:Slc4a10	UTSW	2	62190893	splice site	probably benign
R0883:Slc4a10	UTSW	2	62243398	missense	probably benign	0.11
R1167:Slc4a10	UTSW	2	62228574	missense	probably damaging	1.00
R1276:Slc4a10	UTSW	2	62250443	missense	probably damaging	0.99
R1395:Slc4a10	UTSW	2	62313286	missense	probably benign	0.00
R1455:Slc4a10	UTSW	2	62286930	missense	probably damaging	1.00
R1589:Slc4a10	UTSW	2	62257462	missense	probably damaging	1.00
R1677:Slc4a10	UTSW	2	62324727	missense	probably benign
R1848:Slc4a10	UTSW	2	62316606	missense	probably damaging	1.00
R1987:Slc4a10	UTSW	2	62268204	missense	probably damaging	1.00
R1988:Slc4a10	UTSW	2	62268204	missense	probably damaging	1.00
R2018:Slc4a10	UTSW	2	62234381	missense	probably damaging	1.00
R2019:Slc4a10	UTSW	2	62234381	missense	probably damaging	1.00
R2407:Slc4a10	UTSW	2	62313343	missense	probably benign
R4067:Slc4a10	UTSW	2	62046645	start codon destroyed	probably benign	0.00
R4184:Slc4a10	UTSW	2	62317442	intron	probably benign
R4255:Slc4a10	UTSW	2	62281936	missense	probably benign	0.10
R4282:Slc4a10	UTSW	2	62244343	splice site	probably null
R4296:Slc4a10	UTSW	2	62234428	missense	possibly damaging	0.80
R4361:Slc4a10	UTSW	2	62243385	missense	probably benign	0.00
R4596:Slc4a10	UTSW	2	62296858	missense	probably damaging	1.00
R4709:Slc4a10	UTSW	2	62257517	missense	probably null	1.00
R4755:Slc4a10	UTSW	2	62296988	missense	probably damaging	1.00
R4836:Slc4a10	UTSW	2	62268187	missense	probably damaging	1.00
R4841:Slc4a10	UTSW	2	62257595	missense	possibly damaging	0.68
R4998:Slc4a10	UTSW	2	62244439	missense	probably benign	0.00
R5069:Slc4a10	UTSW	2	62267571	missense	probably benign	0.06
R5223:Slc4a10	UTSW	2	62253366	missense	probably damaging	1.00
R5244:Slc4a10	UTSW	2	62288725	missense	probably damaging	1.00
R5386:Slc4a10	UTSW	2	62290058	missense	probably damaging	1.00
R5808:Slc4a10	UTSW	2	62250472	missense	probably damaging	1.00
R5999:Slc4a10	UTSW	2	62243431	missense	probably benign	0.10
R6007:Slc4a10	UTSW	2	62268872	missense	probably benign	0.44
R6009:Slc4a10	UTSW	2	62046690	missense	probably benign	0.00
R6015:Slc4a10	UTSW	2	62228702	missense	probably benign	0.05
R6103:Slc4a10	UTSW	2	62234465	missense	probably damaging	1.00
R6141:Slc4a10	UTSW	2	62211445	missense	probably damaging	1.00
R6193:Slc4a10	UTSW	2	62243357	splice site	probably null
R6217:Slc4a10	UTSW	2	62303951	missense	probably benign	0.27
R6280:Slc4a10	UTSW	2	62281966	missense	probably benign	0.05
R6523:Slc4a10	UTSW	2	62286961	nonsense	probably null
R6643:Slc4a10	UTSW	2	62228710	missense	possibly damaging	0.96
R6660:Slc4a10	UTSW	2	62250403	missense	possibly damaging	0.55
R7008:Slc4a10	UTSW	2	62286922	missense	probably benign	0.00
R7083:Slc4a10	UTSW	2	62234495	missense	probably benign	0.03
R7223:Slc4a10	UTSW	2	62268665	missense	probably damaging	0.99
R7243:Slc4a10	UTSW	2	62303862	missense	probably damaging	1.00
R7449:Slc4a10	UTSW	2	62303946	missense	probably benign
R7621:Slc4a10	UTSW	2	62250479	missense	probably damaging	0.98
R7692:Slc4a10	UTSW	2	62303964	missense	possibly damaging	0.94
R7742:Slc4a10	UTSW	2	62296850	missense	probably damaging	1.00
R7905:Slc4a10	UTSW	2	62268151	missense	probably damaging	1.00
R8179:Slc4a10	UTSW	2	62243448	missense	possibly damaging	0.64
R8528:Slc4a10	UTSW	2	62296796	missense	possibly damaging	0.79
R8531:Slc4a10	UTSW	2	62267507	missense	probably damaging	1.00
R9307:Slc4a10	UTSW	2	62253318	missense	probably damaging	1.00
R9531:Slc4a10	UTSW	2	62268810	missense	probably damaging	1.00
R9732:Slc4a10	UTSW	2	62304742	missense	probably damaging	0.97
U24488:Slc4a10	UTSW	2	62046658	missense	probably benign	0.05
X0019:Slc4a10	UTSW	2	62228599	missense	probably damaging	1.00
Z1088:Slc4a10	UTSW	2	62228571	missense	probably damaging	1.00
Z1176:Slc4a10	UTSW	2	62211379	missense	probably damaging	1.00
Z1176:Slc4a10	UTSW	2	62244416	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCAGATGCAATCTACCGTC -3'
(R):5'- GCTACTGCATTATGGATGGCC -3'

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

Posted On

2021-03-08