Incidental Mutation 'R1939:Slc4a7'
| ID |
213848 |
| 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 |
039957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R1939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14748581 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 320
(A320V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000224752]
[ENSMUST00000224222]
[ENSMUST00000225979]
[ENSMUST00000226079]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000224049]
[ENSMUST00000225630]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: A333V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: A333V
| 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 damaging
Transcript: ENSMUST00000223607
AA Change: A445V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223695
AA Change: A346V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: A339V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: A456V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223771
AA Change: A36V
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: A458V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: A449V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: A353V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224752
AA Change: A450V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224222
AA Change: A445V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225979
AA Change: A340V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226079
AA Change: A333V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224333
AA Change: A464V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225175
AA Change: A443V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: A320V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224049
AA Change: A326V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: A372V
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225630
AA Change: A320V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
A |
11: 83,331,130 (GRCm39) |
W11R |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,207,186 (GRCm39) |
|
probably null |
Het |
| 4933409G03Rik |
T |
C |
2: 68,419,328 (GRCm39) |
S26P |
possibly damaging |
Het |
| Ace2 |
A |
T |
X: 162,939,524 (GRCm39) |
M123L |
possibly damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,325 (GRCm39) |
N264S |
probably benign |
Het |
| Acvr1c |
A |
T |
2: 58,173,517 (GRCm39) |
N248K |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,380,015 (GRCm39) |
F94L |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,253,358 (GRCm39) |
|
probably null |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,755 (GRCm39) |
M98V |
possibly damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,676,563 (GRCm39) |
P184S |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,361,220 (GRCm39) |
C785* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,977,332 (GRCm39) |
S4362P |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,077 (GRCm39) |
F712S |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,455,245 (GRCm39) |
C39R |
probably damaging |
Het |
| Cngb1 |
C |
A |
8: 96,026,320 (GRCm39) |
G154W |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,895,073 (GRCm39) |
H115R |
probably benign |
Het |
| Col23a1 |
A |
G |
11: 51,442,816 (GRCm39) |
D159G |
unknown |
Het |
| Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,637,524 (GRCm39) |
A309S |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Engase |
T |
A |
11: 118,370,012 (GRCm39) |
N97K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,400,362 (GRCm39) |
M247K |
probably damaging |
Het |
| Fer |
T |
C |
17: 64,280,123 (GRCm39) |
S65P |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,688 (GRCm39) |
R156G |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm904 |
T |
C |
13: 50,798,772 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
T |
A |
2: 127,277,879 (GRCm39) |
*802K |
probably null |
Het |
| Hcfc2 |
G |
T |
10: 82,538,284 (GRCm39) |
R107L |
probably damaging |
Het |
| Itga8 |
T |
G |
2: 12,305,657 (GRCm39) |
D111A |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lgals8 |
T |
G |
13: 12,474,069 (GRCm39) |
I10L |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,587,601 (GRCm39) |
S116P |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,546 (GRCm39) |
K94I |
possibly damaging |
Het |
| Mpnd |
T |
C |
17: 56,322,920 (GRCm39) |
F384S |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,686 (GRCm39) |
N16K |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,778,529 (GRCm39) |
T1139A |
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,801 (GRCm39) |
I53R |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,393,636 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Nudt6 |
T |
C |
3: 37,459,379 (GRCm39) |
Y54C |
probably damaging |
Het |
| Or10j3b |
G |
T |
1: 173,043,499 (GRCm39) |
A94S |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,348 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c217 |
A |
C |
10: 129,737,970 (GRCm39) |
M203R |
probably damaging |
Het |
| Or8b35 |
A |
G |
9: 37,904,385 (GRCm39) |
N199S |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,725 (GRCm39) |
Y72* |
probably null |
Het |
| Osbpl8 |
A |
T |
10: 111,125,672 (GRCm39) |
H784L |
probably benign |
Het |
| Osr1 |
T |
G |
12: 9,629,687 (GRCm39) |
S187A |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,772,921 (GRCm39) |
Y1035* |
probably null |
Het |
| Pla2g15 |
A |
G |
8: 106,889,927 (GRCm39) |
T400A |
probably damaging |
Het |
| Pms1 |
A |
C |
1: 53,236,135 (GRCm39) |
L715R |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,441,777 (GRCm39) |
N254S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,653,777 (GRCm39) |
V3868A |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,560 (GRCm39) |
N435S |
probably benign |
Het |
| Purb |
T |
C |
11: 6,424,943 (GRCm39) |
E315G |
unknown |
Het |
| Rap1b |
A |
T |
10: 117,654,491 (GRCm39) |
N116K |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,313,562 (GRCm39) |
L15P |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,042 (GRCm39) |
N876S |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,816,834 (GRCm39) |
I114F |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,584,627 (GRCm39) |
I428V |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,708,963 (GRCm39) |
N19D |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,317 (GRCm39) |
M276V |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,059,864 (GRCm39) |
T172A |
probably benign |
Het |
| Slco1a6 |
T |
A |
6: 142,078,956 (GRCm39) |
Y113F |
probably damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| St3gal6 |
A |
T |
16: 58,293,924 (GRCm39) |
|
probably null |
Het |
| Tdp2 |
A |
G |
13: 25,025,260 (GRCm39) |
D343G |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,899,603 (GRCm39) |
L657Q |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,194,399 (GRCm39) |
T12A |
possibly damaging |
Het |
| Trappc6a |
T |
A |
7: 19,248,426 (GRCm39) |
F28I |
probably damaging |
Het |
| Trim32 |
G |
A |
4: 65,532,303 (GRCm39) |
V287I |
probably benign |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,289 (GRCm39) |
S15P |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,566,670 (GRCm39) |
I169V |
probably benign |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttll11 |
T |
A |
2: 35,830,765 (GRCm39) |
Q18L |
probably null |
Het |
| Ttll8 |
A |
T |
15: 88,799,689 (GRCm39) |
I584N |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,871 (GRCm39) |
V171A |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,532 (GRCm39) |
I66N |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,852 (GRCm39) |
D41G |
possibly damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,305,976 (GRCm39) |
D393G |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
| Zfp976 |
C |
A |
7: 42,263,105 (GRCm39) |
C244F |
unknown |
Het |
| Zmym5 |
A |
G |
14: 57,036,577 (GRCm39) |
V190A |
probably damaging |
Het |
|
| Other mutations in Slc4a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Slc4a7
|
APN |
14 |
14,760,292 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01468:Slc4a7
|
APN |
14 |
14,737,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01863:Slc4a7
|
APN |
14 |
14,762,430 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03122:Slc4a7
|
APN |
14 |
14,782,040 (GRCm38) |
splice site |
probably benign |
|
|
R0020:Slc4a7
|
UTSW |
14 |
14,796,108 (GRCm38) |
missense |
probably benign |
|
|
R0403:Slc4a7
|
UTSW |
14 |
14,766,808 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0410:Slc4a7
|
UTSW |
14 |
14,738,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0624:Slc4a7
|
UTSW |
14 |
14,794,059 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0631:Slc4a7
|
UTSW |
14 |
14,757,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1128:Slc4a7
|
UTSW |
14 |
14,733,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1556:Slc4a7
|
UTSW |
14 |
14,778,872 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1672:Slc4a7
|
UTSW |
14 |
14,760,247 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1711:Slc4a7
|
UTSW |
14 |
14,765,709 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1870:Slc4a7
|
UTSW |
14 |
14,737,509 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2012:Slc4a7
|
UTSW |
14 |
14,733,727 (GRCm38) |
nonsense |
probably null |
|
|
R2042:Slc4a7
|
UTSW |
14 |
14,737,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Slc4a7
|
UTSW |
14 |
14,733,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2404:Slc4a7
|
UTSW |
14 |
14,733,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2880:Slc4a7
|
UTSW |
14 |
14,773,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3729:Slc4a7
|
UTSW |
14 |
14,729,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4368:Slc4a7
|
UTSW |
14 |
14,733,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4395:Slc4a7
|
UTSW |
14 |
14,765,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4432:Slc4a7
|
UTSW |
14 |
14,757,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4592:Slc4a7
|
UTSW |
14 |
14,778,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4705:Slc4a7
|
UTSW |
14 |
14,733,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4743:Slc4a7
|
UTSW |
14 |
14,796,073 (GRCm38) |
splice site |
probably null |
|
|
R4765:Slc4a7
|
UTSW |
14 |
14,762,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Slc4a7
|
UTSW |
14 |
14,772,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4845:Slc4a7
|
UTSW |
14 |
14,733,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4880:Slc4a7
|
UTSW |
14 |
14,757,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4948:Slc4a7
|
UTSW |
14 |
14,771,283 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5348:Slc4a7
|
UTSW |
14 |
14,786,310 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5385:Slc4a7
|
UTSW |
14 |
14,773,345 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5418:Slc4a7
|
UTSW |
14 |
14,760,280 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5480:Slc4a7
|
UTSW |
14 |
14,782,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5842:Slc4a7
|
UTSW |
14 |
14,778,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5919:Slc4a7
|
UTSW |
14 |
14,791,092 (GRCm38) |
missense |
probably benign |
|
|
R6063:Slc4a7
|
UTSW |
14 |
14,793,964 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6065:Slc4a7
|
UTSW |
14 |
14,739,836 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6549:Slc4a7
|
UTSW |
14 |
14,748,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6845:Slc4a7
|
UTSW |
14 |
14,775,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6870:Slc4a7
|
UTSW |
14 |
14,733,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6881:Slc4a7
|
UTSW |
14 |
14,737,452 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6962:Slc4a7
|
UTSW |
14 |
14,746,021 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7099:Slc4a7
|
UTSW |
14 |
14,733,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7180:Slc4a7
|
UTSW |
14 |
14,765,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7346:Slc4a7
|
UTSW |
14 |
14,775,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7378:Slc4a7
|
UTSW |
14 |
14,757,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7646:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7647:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7648:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7650:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7857:Slc4a7
|
UTSW |
14 |
14,772,624 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7892:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8124:Slc4a7
|
UTSW |
14 |
14,729,211 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8225:Slc4a7
|
UTSW |
14 |
14,738,224 (GRCm38) |
nonsense |
probably null |
|
|
R8354:Slc4a7
|
UTSW |
14 |
14,786,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8998:Slc4a7
|
UTSW |
14 |
14,775,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Slc4a7
|
UTSW |
14 |
14,773,241 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9043:Slc4a7
|
UTSW |
14 |
14,775,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9139:Slc4a7
|
UTSW |
14 |
14,796,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9342:Slc4a7
|
UTSW |
14 |
14,772,541 (GRCm38) |
nonsense |
probably null |
|
|
R9383:Slc4a7
|
UTSW |
14 |
14,766,803 (GRCm38) |
nonsense |
probably null |
|
|
R9568:Slc4a7
|
UTSW |
14 |
14,796,073 (GRCm38) |
splice site |
probably null |
|
|
R9798:Slc4a7
|
UTSW |
14 |
14,782,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Slc4a7
|
UTSW |
14 |
14,771,276 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATATCTGTGAGAATTTTGGTG -3'
(R):5'- CTCTAATACTCAAAGCGTTTTGGC -3'
Sequencing Primer
(F):5'- AGATCTCACATTTTGATTACCAGTAG -3'
(R):5'- CTCAAAGCGTTTTGGCATAATGACTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation