Mutagenetix > Incidental Mutations

Incidental Mutation 'R6870:Slc4a7'

536162

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R6870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14702279-14799940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14733846 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 85 (D85E)

Ref Sequence

ENSEMBL: ENSMUSP00000058313 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000057015
AA Change: D85E

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

SMART Domains

Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: D85E

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: D85E

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223695
AA Change: D91E

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000223740
AA Change: D91E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000223761
AA Change: D85E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223981
AA Change: D85E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224049
AA Change: D91E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000224222
AA Change: D85E

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224333
AA Change: D91E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224672
AA Change: D91E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000224752
AA Change: D90E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000224952
AA Change: D104E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225175
AA Change: D85E

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225232
AA Change: D85E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225238
AA Change: D85E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000225630
AA Change: D85E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225979
AA Change: D85E

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000226079
AA Change: D85E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,136,408	Y62C	probably benign	Het
A1bg	T	C	15: 60,919,715	T291A	probably damaging	Het
Abcb11	A	G	2: 69,285,298	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,965,265	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,646,730	L516*	probably null	Het
Arhgap21	A	G	2: 20,880,510	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,470,062	V65A	probably benign	Het
Calm3	T	A	7: 16,919,643	Q9L	probably benign	Het
Cd300c2	C	T	11: 115,000,677	D124N	probably damaging	Het
Celsr3	A	G	9: 108,829,191	T958A	probably benign	Het
Cfap69	T	C	5: 5,621,958	T317A	probably benign	Het
Cluh	T	A	11: 74,665,384	I887K	probably damaging	Het
Dag1	A	T	9: 108,209,258	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,919,437		probably null	Het
Dnah1	T	A	14: 31,271,061	K2959*	probably null	Het
Dnttip2	T	A	3: 122,275,808	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,393	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,140,167	H84L	unknown	Het
Elac2	A	T	11: 64,999,763	S698C	probably null	Het
Elf2	A	T	3: 51,294,165	*88R	probably null	Het
Fastkd1	T	A	2: 69,708,614	I143L	probably benign	Het
Fbxw10	C	T	11: 62,855,367	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,531,132	M57V	probably benign	Het
Gbp4	T	C	5: 105,125,578	S129G	probably damaging	Het
Gnat2	A	C	3: 108,095,631		probably benign	Het
Golgb1	C	A	16: 36,918,203	F2301L	probably damaging	Het
Il18bp	T	C	7: 102,017,311	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,992,694		probably null	Het
Lrrfip2	A	T	9: 111,216,119		probably benign	Het
Map4k1	T	G	7: 29,001,671		probably null	Het
Mcm3ap	T	C	10: 76,470,215	V54A	probably benign	Het
Nup133	A	G	8: 123,899,507	I1112T	probably benign	Het
Olfr906	A	C	9: 38,488,086	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,092,087	V651D	probably damaging	Het
Pde10a	A	G	17: 8,967,524	T571A	possibly damaging	Het
Phc3	A	G	3: 30,936,761	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,604,533	E113G	probably damaging	Het
Psmd2	T	G	16: 20,661,843	M744R	probably benign	Het
Qrich2	T	C	11: 116,455,330	D1556G	probably damaging	Het
Sept1	C	T	7: 127,217,704	V46M	probably benign	Het
Shank2	C	A	7: 144,052,460	Q127K	probably damaging	Het
Siah1a	A	G	8: 86,725,025	V277A	possibly damaging	Het
Slc5a12	A	T	2: 110,641,810	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,935,603	S17C	probably damaging	Het
Tmem2	T	C	19: 21,832,123	S956P	possibly damaging	Het
Tssk6	G	A	8: 69,903,023	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,873,208	D80G	probably benign	Het
Tyk2	A	G	9: 21,124,954	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,850,777	S503P	probably benign	Het
Upf1	A	T	8: 70,341,561	C232S	probably benign	Het
Zeb2	G	A	2: 44,988,910	T1080I	probably damaging	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
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
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
X0067:Slc4a7	UTSW	14	14771276	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GATGCGCTTTCTTGAATGTCATAC -3'
(R):5'- ACACTCATGCACCAGATTCTG -3'

Sequencing Primer
(F):5'- TCTTGAATGTCATACTTTCACTTTGG -3'
(R):5'- TAGACCCCGCTGTAGAAATGCTTG -3'

Posted On

2018-10-18