Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Slc4a11'

323299

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

041656-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130526033-130539439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130526927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 734 (V734F)

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: V734F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: V734F

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	probably damaging	Het

Other mutations in Slc4a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Slc4a11	APN	2	130,530,058 (GRCm39)	missense	probably benign	0.11
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
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

Predicted Primers

PCR Primer
(F):5'- CACTCTCCGGATGTAGTGTG -3'
(R):5'- ACGTGAGTATGAATGGGCCC -3'

Sequencing Primer
(F):5'- ATGTCTGTGGGCAAGAGGC -3'
(R):5'- TATGAATGGGCCCTAGAGTCC -3'

Posted On

2015-06-20