Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Slc4a7'

366084

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

042406-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14702279-14799940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14762414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 600 (D600E)

Ref Sequence

ENSEMBL: ENSMUSP00000153185 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057015
AA Change: D483E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: D483E

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: D595E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223695
AA Change: D496E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223740
AA Change: D489E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223761
AA Change: D606E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000223771

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223981
AA Change: D608E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224049
AA Change: D476E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224222
AA Change: D595E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000224333
AA Change: D614E

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224672
AA Change: D599E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224750

Predicted Effect

probably damaging
Transcript: ENSMUST00000225238
AA Change: D503E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225630
AA Change: D470E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226079
AA Change: D483E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000224952
AA Change: D522E

Predicted Effect

probably damaging
Transcript: ENSMUST00000224752
AA Change: D600E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000225979
AA Change: D490E

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225232
AA Change: D470E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225175
AA Change: D593E

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225508

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Cflar	T	C	1: 58,732,321	S203P	probably damaging	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Enpp2	A	G	15: 54,875,672	V353A	possibly damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Gps2	T	C	11: 69,916,361		probably benign	Het
Hcn4	A	T	9: 58,857,977	I581F	unknown	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,819,024		probably null	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,219,431	E298D	probably benign	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	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
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
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
R9568:Slc4a7	UTSW	14	14796073	splice site	probably null
R9798:Slc4a7	UTSW	14	14782056	missense	probably damaging	1.00
X0067:Slc4a7	UTSW	14	14771276	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CTGCAACCTTTTCAGCATATAACC -3'
(R):5'- ACAGACACTTGCCTCTGAGG -3'

Sequencing Primer
(F):5'- ATGAGATGTATCTTTCCTCAG -3'
(R):5'- ACACTTGCCTCTGAGGAGCTG -3'

Posted On

2015-12-21