Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00474:Slc4a11'

7029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc4a11

Ensembl Gene

ENSMUSG00000074796

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

IGL00474

Quality Score

Status

Chromosome

Chromosomal Location

130526033-130539439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130530058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 240 (M240K)

Ref Sequence

ENSEMBL: ENSMUSP00000096963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099362] [ENSMUST00000127397]

AlphaFold

A2AJN7

Predicted Effect

probably benign
Transcript: ENSMUST00000099362
AA Change: M240K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: M240K

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: ENSMUST00000127397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144945

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 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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,511,610 (GRCm39)	K730R	possibly damaging	Het
Adgrf4	T	C	17: 42,986,650 (GRCm39)	I36M	probably damaging	Het
Atp2a1	A	T	7: 126,049,466 (GRCm39)	C525*	probably null	Het
Col11a1	A	C	3: 113,860,182 (GRCm39)	M203L	unknown	Het
Duox2	T	A	2: 122,114,056 (GRCm39)	M1159L	probably benign	Het
Harbi1	T	G	2: 91,542,971 (GRCm39)	V144G	probably damaging	Het
Kcp	A	G	6: 29,482,656 (GRCm39)	V1471A	probably benign	Het
Lrig1	G	T	6: 94,588,385 (GRCm39)	T588K	probably damaging	Het
Lyst	A	G	13: 13,818,121 (GRCm39)	I1264V	possibly damaging	Het
Vmn1r120	T	A	7: 20,786,935 (GRCm39)	I259F	probably benign	Het

Other mutations in Slc4a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Slc4a11	APN	2	130,532,752 (GRCm39)	critical splice donor site	probably null
IGL01330:Slc4a11	APN	2	130,529,602 (GRCm39)	missense	probably benign	0.11
IGL01349:Slc4a11	APN	2	130,528,863 (GRCm39)	missense	probably benign	0.33
IGL01474:Slc4a11	APN	2	130,527,464 (GRCm39)	missense	probably damaging	1.00
IGL01528:Slc4a11	APN	2	130,527,328 (GRCm39)	unclassified	probably benign
IGL01752:Slc4a11	APN	2	130,530,065 (GRCm39)	missense	probably damaging	1.00
IGL01859:Slc4a11	APN	2	130,526,914 (GRCm39)	missense	probably damaging	1.00
IGL01914:Slc4a11	APN	2	130,529,199 (GRCm39)	missense	probably damaging	1.00
IGL02367:Slc4a11	APN	2	130,526,879 (GRCm39)	missense	probably damaging	1.00
IGL02373:Slc4a11	APN	2	130,526,818 (GRCm39)	missense	probably benign	0.07
IGL02516:Slc4a11	APN	2	130,533,313 (GRCm39)	missense	possibly damaging	0.89
IGL02894:Slc4a11	APN	2	130,529,075 (GRCm39)	splice site	probably null
R0029:Slc4a11	UTSW	2	130,529,974 (GRCm39)	missense	probably damaging	1.00
R0077:Slc4a11	UTSW	2	130,528,221 (GRCm39)	unclassified	probably benign
R0270:Slc4a11	UTSW	2	130,532,852 (GRCm39)	missense	possibly damaging	0.89
R0502:Slc4a11	UTSW	2	130,530,077 (GRCm39)	missense	probably damaging	1.00
R1316:Slc4a11	UTSW	2	130,528,071 (GRCm39)	missense	probably benign	0.01
R1628:Slc4a11	UTSW	2	130,529,047 (GRCm39)	splice site	probably null
R1859:Slc4a11	UTSW	2	130,529,932 (GRCm39)	missense	probably benign	0.00
R2235:Slc4a11	UTSW	2	130,527,544 (GRCm39)	missense	probably benign	0.19
R2247:Slc4a11	UTSW	2	130,529,721 (GRCm39)	missense	probably benign	0.00
R2332:Slc4a11	UTSW	2	130,526,379 (GRCm39)	missense	probably benign	0.17
R3840:Slc4a11	UTSW	2	130,529,974 (GRCm39)	missense	probably damaging	1.00
R3890:Slc4a11	UTSW	2	130,527,705 (GRCm39)	missense	probably damaging	0.98
R4296:Slc4a11	UTSW	2	130,526,927 (GRCm39)	missense	probably benign	0.01
R4304:Slc4a11	UTSW	2	130,530,058 (GRCm39)	missense	probably benign	0.11
R4749:Slc4a11	UTSW	2	130,532,787 (GRCm39)	missense	probably damaging	1.00
R4927:Slc4a11	UTSW	2	130,526,866 (GRCm39)	missense	probably damaging	0.99
R4939:Slc4a11	UTSW	2	130,526,788 (GRCm39)	missense	probably damaging	1.00
R5756:Slc4a11	UTSW	2	130,529,783 (GRCm39)	missense	probably benign	0.13
R5869:Slc4a11	UTSW	2	130,526,379 (GRCm39)	missense	probably benign	0.04
R5905:Slc4a11	UTSW	2	130,526,972 (GRCm39)	missense	probably damaging	1.00
R6709:Slc4a11	UTSW	2	130,526,616 (GRCm39)	missense	probably damaging	1.00
R7337:Slc4a11	UTSW	2	130,527,452 (GRCm39)	missense	probably damaging	1.00
R7909:Slc4a11	UTSW	2	130,534,220 (GRCm39)	missense	probably benign
R8881:Slc4a11	UTSW	2	130,527,457 (GRCm39)	missense	probably damaging	0.96
R8889:Slc4a11	UTSW	2	130,529,140 (GRCm39)	missense	probably damaging	1.00
R8892:Slc4a11	UTSW	2	130,529,140 (GRCm39)	missense	probably damaging	1.00
R9006:Slc4a11	UTSW	2	130,532,773 (GRCm39)	missense	probably damaging	0.99
R9038:Slc4a11	UTSW	2	130,533,663 (GRCm39)	missense	probably damaging	1.00
R9162:Slc4a11	UTSW	2	130,534,214 (GRCm39)	missense	possibly damaging	0.80
R9239:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9240:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9241:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9323:Slc4a11	UTSW	2	130,528,830 (GRCm39)	missense	possibly damaging	0.95
R9361:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9363:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9418:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9419:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9420:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9421:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9426:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9431:Slc4a11	UTSW	2	130,533,664 (GRCm39)	missense	probably damaging	1.00
R9609:Slc4a11	UTSW	2	130,530,035 (GRCm39)	missense	possibly damaging	0.71
Z1177:Slc4a11	UTSW	2	130,533,555 (GRCm39)	missense	possibly damaging	0.89

Posted On

2012-04-20