Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Slc4a11'

454312

Institutional Source

Beutler Lab

Gene Symbol

Slc4a11

Ensembl Gene

ENSMUSG00000074796

Gene Name

solute carrier family 4, sodium bicarbonate transporter-like, member 11

Synonyms

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R5869 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

130684113-130697519 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 130684459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 855 (V855G)

Ref Sequence

ENSEMBL: ENSMUSP00000096963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099362] [ENSMUST00000103193]

AlphaFold

A2AJN7

Predicted Effect

probably benign
Transcript: ENSMUST00000099362
AA Change: V855G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: V855G

Domain	Start	End	E-Value	Type
SCOP:d1a3aa_	199	276	5e-5	SMART
Pfam:HCO3_cotransp	308	806	9.7e-153	PFAM
transmembrane domain	827	844	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103193

SMART Domains

Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797

Domain	Start	End	E-Value	Type
Pfam:Ham1p_like	10	188	4.3e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144945

Meta Mutation Damage Score

0.0939

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urinehypoosmolarity and impaired hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	probably damaging	Het

Other mutations in Slc4a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Slc4a11	APN	2	130688138	missense	probably benign	0.11
IGL01292:Slc4a11	APN	2	130690832	critical splice donor site	probably null
IGL01330:Slc4a11	APN	2	130687682	missense	probably benign	0.11
IGL01349:Slc4a11	APN	2	130686943	missense	probably benign	0.33
IGL01474:Slc4a11	APN	2	130685544	missense	probably damaging	1.00
IGL01528:Slc4a11	APN	2	130685408	unclassified	probably benign
IGL01752:Slc4a11	APN	2	130688145	missense	probably damaging	1.00
IGL01859:Slc4a11	APN	2	130684994	missense	probably damaging	1.00
IGL01914:Slc4a11	APN	2	130687279	missense	probably damaging	1.00
IGL02367:Slc4a11	APN	2	130684959	missense	probably damaging	1.00
IGL02373:Slc4a11	APN	2	130684898	missense	probably benign	0.07
IGL02516:Slc4a11	APN	2	130691393	missense	possibly damaging	0.89
IGL02894:Slc4a11	APN	2	130687155	splice site	probably null
R0029:Slc4a11	UTSW	2	130688054	missense	probably damaging	1.00
R0077:Slc4a11	UTSW	2	130686301	unclassified	probably benign
R0270:Slc4a11	UTSW	2	130690932	missense	possibly damaging	0.89
R0502:Slc4a11	UTSW	2	130688157	missense	probably damaging	1.00
R1316:Slc4a11	UTSW	2	130686151	missense	probably benign	0.01
R1628:Slc4a11	UTSW	2	130687127	splice site	probably null
R1859:Slc4a11	UTSW	2	130688012	missense	probably benign	0.00
R2235:Slc4a11	UTSW	2	130685624	missense	probably benign	0.19
R2247:Slc4a11	UTSW	2	130687801	missense	probably benign	0.00
R2332:Slc4a11	UTSW	2	130684459	missense	probably benign	0.17
R3840:Slc4a11	UTSW	2	130688054	missense	probably damaging	1.00
R3890:Slc4a11	UTSW	2	130685785	missense	probably damaging	0.98
R4296:Slc4a11	UTSW	2	130685007	missense	probably benign	0.01
R4304:Slc4a11	UTSW	2	130688138	missense	probably benign	0.11
R4749:Slc4a11	UTSW	2	130690867	missense	probably damaging	1.00
R4927:Slc4a11	UTSW	2	130684946	missense	probably damaging	0.99
R4939:Slc4a11	UTSW	2	130684868	missense	probably damaging	1.00
R5756:Slc4a11	UTSW	2	130687863	missense	probably benign	0.13
R5905:Slc4a11	UTSW	2	130685052	missense	probably damaging	1.00
R6709:Slc4a11	UTSW	2	130684696	missense	probably damaging	1.00
R7337:Slc4a11	UTSW	2	130685532	missense	probably damaging	1.00
R7909:Slc4a11	UTSW	2	130692300	missense	probably benign
R8881:Slc4a11	UTSW	2	130685537	missense	probably damaging	0.96
R8889:Slc4a11	UTSW	2	130687220	missense	probably damaging	1.00
R8892:Slc4a11	UTSW	2	130687220	missense	probably damaging	1.00
R9006:Slc4a11	UTSW	2	130690853	missense	probably damaging	0.99
R9038:Slc4a11	UTSW	2	130691743	missense	probably damaging	1.00
R9162:Slc4a11	UTSW	2	130692294	missense	possibly damaging	0.80
R9239:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9240:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9241:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9323:Slc4a11	UTSW	2	130686910	missense	possibly damaging	0.95
R9361:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9363:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9418:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9419:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9420:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9421:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9426:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
R9431:Slc4a11	UTSW	2	130691744	missense	probably damaging	1.00
Z1177:Slc4a11	UTSW	2	130691635	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CAGTGTTTCTGACCCCAAACTG -3'
(R):5'- GAAGATGGTCTTTCCCCTCATC -3'

Sequencing Primer
(F):5'- CCCCAAACTGAATGTTAACAGGGTG -3'
(R):5'- GATGGTCTTTCCCCTCATCATGATTG -3'

Posted On

2017-02-10