Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Slc4a7'

178420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc4a7

Ensembl Gene

ENSMUSG00000021733

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter, member 7

Synonyms

NBC3, NBCn1, E430014N10Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

14702279-14799940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14762430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 509 (C509S)

Ref Sequence

ENSEMBL: ENSMUSP00000152984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057015] [ENSMUST00000223607] [ENSMUST00000223695] [ENSMUST00000223740] [ENSMUST00000223761] [ENSMUST00000223981] [ENSMUST00000224049] [ENSMUST00000224222] [ENSMUST00000224333] [ENSMUST00000224672] [ENSMUST00000224752] [ENSMUST00000225238] [ENSMUST00000225175] [ENSMUST00000225232] [ENSMUST00000225979] [ENSMUST00000226079] [ENSMUST00000225630]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057015
AA Change: C489S

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: C489S

Domain	Start	End	E-Value	Type
low complexity region	57	89	N/A	INTRINSIC
Pfam:Band_3_cyto	146	413	1.4e-110	PFAM
Pfam:HCO3_cotransp	456	969	1.6e-242	PFAM
transmembrane domain	977	999	N/A	INTRINSIC
coiled coil region	1021	1050	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223607
AA Change: C601S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000223695
AA Change: C502S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223740
AA Change: C495S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223761
AA Change: C612S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000223771

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223981
AA Change: C614S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224049
AA Change: C482S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224222
AA Change: C601S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224333
AA Change: C620S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224672
AA Change: C605S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224750

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224752
AA Change: C606S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225238
AA Change: C509S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225175
AA Change: C599S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225232
AA Change: C476S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225496

Predicted Effect

probably benign
Transcript: ENSMUST00000225979
AA Change: C496S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226079
AA Change: C489S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000224952
AA Change: C528S

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225630
AA Change: C476S

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Slc4a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Slc4a7	APN	14	14760292	missense	probably benign	0.18
IGL01468:Slc4a7	APN	14	14737480	missense	probably damaging	1.00
IGL03122:Slc4a7	APN	14	14782040	splice site	probably benign
R0020:Slc4a7	UTSW	14	14796108	missense	probably benign
R0403:Slc4a7	UTSW	14	14766808	missense	probably benign	0.02
R0410:Slc4a7	UTSW	14	14738299	missense	probably damaging	1.00
R0624:Slc4a7	UTSW	14	14794059	critical splice donor site	probably null
R0631:Slc4a7	UTSW	14	14757382	missense	probably damaging	1.00
R1128:Slc4a7	UTSW	14	14733832	missense	probably damaging	1.00
R1556:Slc4a7	UTSW	14	14778872	missense	probably benign	0.01
R1672:Slc4a7	UTSW	14	14760247	missense	possibly damaging	0.91
R1711:Slc4a7	UTSW	14	14765709	missense	probably benign	0.45
R1870:Slc4a7	UTSW	14	14737509	critical splice donor site	probably null
R1939:Slc4a7	UTSW	14	14748581	missense	probably damaging	1.00
R2012:Slc4a7	UTSW	14	14733727	nonsense	probably null
R2042:Slc4a7	UTSW	14	14737386	missense	probably damaging	1.00
R2064:Slc4a7	UTSW	14	14733773	missense	probably damaging	1.00
R2404:Slc4a7	UTSW	14	14733733	missense	probably damaging	1.00
R2880:Slc4a7	UTSW	14	14773277	missense	probably damaging	1.00
R3729:Slc4a7	UTSW	14	14729276	missense	probably damaging	1.00
R4368:Slc4a7	UTSW	14	14733775	missense	probably damaging	1.00
R4395:Slc4a7	UTSW	14	14765665	missense	probably damaging	1.00
R4432:Slc4a7	UTSW	14	14757323	missense	probably damaging	1.00
R4592:Slc4a7	UTSW	14	14778850	missense	probably damaging	1.00
R4705:Slc4a7	UTSW	14	14733856	missense	probably damaging	1.00
R4743:Slc4a7	UTSW	14	14796073	splice site	probably null
R4765:Slc4a7	UTSW	14	14762414	missense	probably damaging	1.00
R4831:Slc4a7	UTSW	14	14772699	critical splice donor site	probably null
R4845:Slc4a7	UTSW	14	14733803	missense	probably damaging	1.00
R4880:Slc4a7	UTSW	14	14757342	missense	probably damaging	1.00
R4948:Slc4a7	UTSW	14	14771283	missense	possibly damaging	0.68
R5348:Slc4a7	UTSW	14	14786310	missense	probably benign	0.02
R5385:Slc4a7	UTSW	14	14773345	missense	possibly damaging	0.94
R5418:Slc4a7	UTSW	14	14760280	missense	probably benign	0.25
R5480:Slc4a7	UTSW	14	14782138	missense	probably damaging	1.00
R5842:Slc4a7	UTSW	14	14778866	missense	probably damaging	1.00
R5919:Slc4a7	UTSW	14	14791092	missense	probably benign
R6063:Slc4a7	UTSW	14	14793964	missense	possibly damaging	0.60
R6065:Slc4a7	UTSW	14	14739836	missense	probably benign	0.29
R6549:Slc4a7	UTSW	14	14748564	missense	probably damaging	1.00
R6845:Slc4a7	UTSW	14	14775000	missense	probably damaging	1.00
R6870:Slc4a7	UTSW	14	14733846	missense	probably damaging	1.00
R6881:Slc4a7	UTSW	14	14737452	missense	probably benign	0.43
R6962:Slc4a7	UTSW	14	14746021	missense	probably damaging	0.99
R7099:Slc4a7	UTSW	14	14733750	missense	probably damaging	1.00
R7180:Slc4a7	UTSW	14	14765580	missense	probably damaging	1.00
R7346:Slc4a7	UTSW	14	14775000	missense	probably damaging	1.00
R7378:Slc4a7	UTSW	14	14757421	missense	probably damaging	1.00
R7646:Slc4a7	UTSW	14	14773348	missense	probably benign	0.01
R7647:Slc4a7	UTSW	14	14773348	missense	probably benign	0.01
R7648:Slc4a7	UTSW	14	14773348	missense	probably benign	0.01
R7650:Slc4a7	UTSW	14	14773348	missense	probably benign	0.01
R7857:Slc4a7	UTSW	14	14772624	missense	probably benign	0.00
R7892:Slc4a7	UTSW	14	14773348	missense	probably benign	0.01
R8124:Slc4a7	UTSW	14	14729211	missense	possibly damaging	0.92
R8225:Slc4a7	UTSW	14	14738224	nonsense	probably null
R8354:Slc4a7	UTSW	14	14786313	missense	probably damaging	1.00
R8998:Slc4a7	UTSW	14	14775346	missense	probably damaging	1.00
R9016:Slc4a7	UTSW	14	14773241	missense	probably damaging	0.99
R9043:Slc4a7	UTSW	14	14775048	missense	probably damaging	1.00
R9139:Slc4a7	UTSW	14	14796115	missense	probably damaging	0.98
R9342:Slc4a7	UTSW	14	14772541	nonsense	probably null
R9383:Slc4a7	UTSW	14	14766803	nonsense	probably null
X0067:Slc4a7	UTSW	14	14771276	missense	possibly damaging	0.93

Posted On

2014-05-07