Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Slc4a11'

569547

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

045427-MU

Accession Numbers

Essential gene?

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

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130526033-130539439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130527452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 648 (N648Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096963 (fasta)

Gene Model

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

AlphaFold

A2AJN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099362
AA Change: N648Y

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

SMART Domains

Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: N648Y

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

Meta Mutation Damage Score

0.9294

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,076,113 (GRCm39)	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,043,239 (GRCm39)	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,343,095 (GRCm39)	V284A	possibly damaging	Het
Alb	A	G	5: 90,622,452 (GRCm39)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,069,764 (GRCm39)	F8L	probably benign	Het
Arhgef7	T	C	8: 11,835,789 (GRCm39)	L182P	probably damaging	Het
Atr	A	G	9: 95,753,501 (GRCm39)	D701G	probably damaging	Het
Calr3	C	T	8: 73,185,339 (GRCm39)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,471,948 (GRCm39)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,618,977 (GRCm39)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,222,290 (GRCm39)	L151H	probably damaging	Het
Ces2e	T	A	8: 105,657,688 (GRCm39)		probably null	Het
Cfap46	A	G	7: 139,210,492 (GRCm39)		probably null	Het
Cfap74	A	G	4: 155,544,472 (GRCm39)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,549,322 (GRCm39)		probably null	Het
Clec4f	C	A	6: 83,630,190 (GRCm39)	V123L	probably benign	Het
Cntn6	C	T	6: 104,627,491 (GRCm39)	T108I	probably damaging	Het
Crygn	T	G	5: 24,961,147 (GRCm39)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,774,594 (GRCm39)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,597,708 (GRCm39)		probably null	Het
Ddb1	T	C	19: 10,605,195 (GRCm39)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,488,534 (GRCm39)		probably null	Het
Draxin	T	C	4: 148,197,216 (GRCm39)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,285 (GRCm39)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,967,562 (GRCm39)	C446S	probably benign	Het
Gm29106	C	T	1: 118,104,642 (GRCm39)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm39)	Y908C	probably damaging	Het
Ints2	G	A	11: 86,108,668 (GRCm39)	A893V	probably benign	Het
Ippk	C	T	13: 49,602,767 (GRCm39)	T371I	probably benign	Het
Irf2	T	A	8: 47,260,316 (GRCm39)	C83S	probably damaging	Het
Jph3	C	T	8: 122,480,441 (GRCm39)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,634,073 (GRCm39)	V13I	probably benign	Het
Lama3	T	C	18: 12,640,097 (GRCm39)		probably null	Het
Lmo7	A	T	14: 102,121,640 (GRCm39)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,071,189 (GRCm39)		probably null	Het
Mfsd6l	A	T	11: 68,448,109 (GRCm39)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,335,676 (GRCm39)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,793,863 (GRCm39)	G19D	probably damaging	Het
Myt1	A	G	2: 181,444,756 (GRCm39)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,201,521 (GRCm39)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,737,599 (GRCm39)	C139S	probably benign	Het
Nsd1	A	G	13: 55,394,022 (GRCm39)	D644G	probably damaging	Het
Nsd2	T	A	5: 34,042,816 (GRCm39)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,473,265 (GRCm39)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,314,230 (GRCm39)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,092,328 (GRCm39)	L46F	unknown	Het
Or8g51	A	G	9: 38,609,161 (GRCm39)	V167A	probably benign	Het
Paqr7	A	G	4: 134,234,431 (GRCm39)	D96G	probably benign	Het
Parp4	A	G	14: 56,839,852 (GRCm39)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Piezo1	A	T	8: 123,212,463 (GRCm39)	Y1955N		Het
Pnma8a	A	G	7: 16,695,315 (GRCm39)	K390R	probably benign	Het
Prdm10	G	T	9: 31,227,537 (GRCm39)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,453,499 (GRCm39)	F104I	probably benign	Het
Ptprf	T	C	4: 118,068,322 (GRCm39)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,500,365 (GRCm39)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,583,024 (GRCm39)	I798T	probably damaging	Het
Rgs5	G	T	1: 169,483,149 (GRCm39)	M1I	probably null	Het
Rhbdl2	T	C	4: 123,711,659 (GRCm39)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,557,393 (GRCm39)	Y547*	probably null	Het
Rptn	A	T	3: 93,304,212 (GRCm39)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,898,033 (GRCm39)	N505D	probably benign	Het
Samhd1	T	C	2: 156,948,164 (GRCm39)	D539G	probably damaging	Het
Scube3	A	T	17: 28,387,156 (GRCm39)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,506,696 (GRCm39)	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,904,828 (GRCm39)	I62V	probably benign	Het
Slc7a11	A	G	3: 50,397,448 (GRCm39)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,964,263 (GRCm39)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,239,377 (GRCm39)	L81R	probably damaging	Het
Spg11	T	C	2: 121,915,474 (GRCm39)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,402,987 (GRCm39)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,684,874 (GRCm39)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm39)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,523,333 (GRCm39)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,758,191 (GRCm39)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 78,868,164 (GRCm39)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,718,504 (GRCm39)	I62L	probably benign	Het
Trpm5	C	T	7: 142,642,756 (GRCm39)	A64T	probably benign	Het
Txk	A	C	5: 72,889,109 (GRCm39)	Y148*	probably null	Het
Uba5	C	T	9: 103,932,454 (GRCm39)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,323,587 (GRCm39)	D231E	probably benign	Het
Ulk4	A	T	9: 121,077,993 (GRCm39)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,489,649 (GRCm39)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,156,605 (GRCm39)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,356,044 (GRCm39)	F454S	probably benign	Het
Zbp1	A	T	2: 173,060,546 (GRCm39)	L8*	probably null	Het
Zmym2	A	T	14: 57,181,557 (GRCm39)	D924V	probably benign	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
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
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'- CAAGTAGCAGGAGATCCCAG -3'
(R):5'- TGGCTTCCAGGAAATTGAGAGTG -3'

Sequencing Primer
(F):5'- ATCCCAGTGATAGGCAGTGC -3'
(R):5'- TGTGGCTTTGCTCCCTAGGAAC -3'

Posted On

2019-09-13