Mutagenetix > Incidental Mutations

Incidental Mutation 'R1711:Slc4a7'

190610

Institutional Source

Beutler Lab

Gene Symbol

Slc4a7

Ensembl Gene

ENSMUSG00000021733

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter, member 7

Synonyms

NBC3, NBCn1, E430014N10Rik

MMRRC Submission

039744-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14702279-14799940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14765709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 680 (R680G)

Ref Sequence

ENSEMBL: ENSMUSP00000152950 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057015
AA Change: R564G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: R564G

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

probably benign
Transcript: ENSMUST00000223607
AA Change: R676G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000223695
AA Change: R577G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223740
AA Change: R570G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000223761
AA Change: R687G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000223771

Predicted Effect

probably benign
Transcript: ENSMUST00000223981
AA Change: R689G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224049
AA Change: R557G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000224222
AA Change: R676G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224333
AA Change: R695G

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000224672
AA Change: R680G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224750

Predicted Effect

unknown
Transcript: ENSMUST00000224952
AA Change: R603G

Predicted Effect

probably benign
Transcript: ENSMUST00000225979
AA Change: R571G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225630
AA Change: R551G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000225175
AA Change: R674G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000224752
AA Change: R681G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225232
AA Change: R551G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000225238
AA Change: R584G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000226079
AA Change: R564G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225508

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974		probably null	Het
Ap3s2	A	T	7: 79,880,490	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979		probably null	Het
Arhgap5	A	G	12: 52,519,345	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,474,286	V281L	probably benign	Het
Clu	G	T	14: 65,980,905	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374		probably null	Het
Ctr9	T	C	7: 111,055,663	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308		probably benign	Het
Ercc6	T	C	14: 32,526,176	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952		probably null	Het
Gucy1a2	G	T	9: 3,759,622	R476I	probably benign	Het
Hars	A	G	18: 36,771,103	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735		probably null	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714		probably null	Het
Pik3c2a	A	T	7: 116,417,927	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748	K236R	probably benign	Het
Slitrk1	T	A	14: 108,913,096	Y61F	probably benign	Het
Son	A	G	16: 91,660,226		probably benign	Het
Sparc	T	A	11: 55,395,776		probably null	Het
Spon2	A	G	5: 33,216,385	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304	S958R	probably benign	Het
Stom	T	A	2: 35,315,917	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889	M191V	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
IGL01863:Slc4a7	APN	14	14762430	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCTTGCAGAGGCTTACGAATAAAAC -3'
(R):5'- CTGGGGTGCAATGGTAATAGGAACC -3'

Sequencing Primer
(F):5'- TGAAAGCACAACACTGTCTTTGC -3'
(R):5'- TAATAGGAACCTTGATAGGACAACC -3'

Posted On

2014-05-14