Incidental Mutation 'R4948:Slc4a7'
| ID |
383613 |
| 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 |
042545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R4948 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14771283 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 671
(Y671C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000225630]
[ENSMUST00000224752]
[ENSMUST00000225232]
[ENSMUST00000225238]
[ENSMUST00000225979]
[ENSMUST00000224222]
[ENSMUST00000226079]
[ENSMUST00000224672]
[ENSMUST00000224333]
[ENSMUST00000225175]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057015
AA Change: Y671C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: Y671C
| 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: Y783C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: Y684C
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
AA Change: Y677C
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223761
AA Change: Y794C
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223981
AA Change: Y796C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224049
AA Change: Y664C
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
AA Change: Y658C
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
AA Change: Y788C
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225232
AA Change: Y658C
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
AA Change: Y691C
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
AA Change: Y678C
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
AA Change: Y783C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226079
AA Change: Y671C
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224672
AA Change: Y787C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
AA Change: Y802C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: Y710C
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
AA Change: Y781C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224750
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.2%
|
| Validation Efficiency |
94% (103/109) |
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
A |
T |
16: 16,936,154 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,124,077 (GRCm39) |
L27* |
probably null |
Het |
| Aldh1a7 |
A |
G |
19: 20,704,374 (GRCm39) |
V40A |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,085,409 (GRCm39) |
I499K |
possibly damaging |
Het |
| B3gnt5 |
A |
C |
16: 19,587,894 (GRCm39) |
M38L |
probably benign |
Het |
| Brd8 |
A |
G |
18: 34,747,585 (GRCm39) |
V92A |
probably damaging |
Het |
| Btla |
A |
T |
16: 45,063,091 (GRCm39) |
E151D |
probably benign |
Het |
| Cd79b |
T |
A |
11: 106,203,687 (GRCm39) |
T67S |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,949,875 (GRCm39) |
R320G |
probably benign |
Het |
| Chad |
A |
C |
11: 94,456,528 (GRCm39) |
D202A |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,295,988 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,674,748 (GRCm39) |
E167G |
possibly damaging |
Het |
| Crisp2 |
T |
G |
17: 41,076,159 (GRCm39) |
H225P |
probably damaging |
Het |
| Cyp2c23 |
T |
C |
19: 44,010,138 (GRCm39) |
Y69C |
possibly damaging |
Het |
| Dcp1a |
T |
A |
14: 30,201,724 (GRCm39) |
L49H |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,030,672 (GRCm39) |
H3380L |
probably benign |
Het |
| Dnai3 |
T |
A |
3: 145,788,820 (GRCm39) |
K254* |
probably null |
Het |
| Dnm2 |
A |
G |
9: 21,415,829 (GRCm39) |
D721G |
possibly damaging |
Het |
| Dnpep |
G |
T |
1: 75,293,404 (GRCm39) |
T15K |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,868,354 (GRCm39) |
D643E |
probably damaging |
Het |
| Ear6 |
C |
T |
14: 52,091,573 (GRCm39) |
T40I |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,137,748 (GRCm39) |
D313G |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,267,415 (GRCm39) |
E272V |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,283,691 (GRCm39) |
E393D |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,246,473 (GRCm39) |
M1100L |
probably benign |
Het |
| Gjd3 |
T |
C |
11: 102,691,247 (GRCm39) |
H252R |
probably damaging |
Het |
| Gm10518 |
T |
C |
1: 179,631,477 (GRCm39) |
|
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,580,656 (GRCm39) |
M165V |
probably benign |
Het |
| Hells |
C |
A |
19: 38,923,966 (GRCm39) |
Q72K |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,392,184 (GRCm39) |
I4031V |
probably benign |
Het |
| Hspa2 |
C |
T |
12: 76,452,761 (GRCm39) |
A485V |
probably damaging |
Het |
| Ighv1-54 |
T |
A |
12: 115,157,438 (GRCm39) |
I70F |
probably benign |
Het |
| Il20rb |
A |
T |
9: 100,343,592 (GRCm39) |
|
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,487,236 (GRCm39) |
V498A |
probably damaging |
Het |
| Krt1 |
C |
A |
15: 101,754,376 (GRCm39) |
V625L |
unknown |
Het |
| Lamc3 |
T |
C |
2: 31,830,748 (GRCm39) |
I1495T |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,645,063 (GRCm39) |
E401G |
possibly damaging |
Het |
| Ldha |
A |
T |
7: 46,496,805 (GRCm39) |
H19L |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,192,335 (GRCm39) |
N83S |
probably damaging |
Het |
| Lrp4 |
G |
T |
2: 91,316,231 (GRCm39) |
R783L |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,687,592 (GRCm39) |
I2227S |
probably benign |
Het |
| Lvrn |
T |
C |
18: 47,013,803 (GRCm39) |
L495P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,391,548 (GRCm39) |
N1077S |
probably damaging |
Het |
| Mboat1 |
A |
G |
13: 30,425,213 (GRCm39) |
T425A |
probably damaging |
Het |
| Mcam |
A |
G |
9: 44,047,863 (GRCm39) |
E36G |
probably damaging |
Het |
| Meis1 |
T |
A |
11: 18,966,308 (GRCm39) |
T22S |
probably benign |
Het |
| Micu1 |
A |
G |
10: 59,699,076 (GRCm39) |
K451R |
possibly damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,505 (GRCm39) |
D209E |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Nmral1 |
G |
A |
16: 4,534,274 (GRCm39) |
R56* |
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
| Or5b99 |
A |
T |
19: 12,977,195 (GRCm39) |
T282S |
probably benign |
Het |
| Or5g25 |
T |
C |
2: 85,477,916 (GRCm39) |
I250V |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,340 (GRCm39) |
T5I |
probably damaging |
Het |
| Palm3 |
A |
T |
8: 84,753,708 (GRCm39) |
R132* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,804,479 (GRCm39) |
Y272C |
probably damaging |
Het |
| Phc2 |
G |
A |
4: 128,616,908 (GRCm39) |
A394T |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,961,198 (GRCm39) |
G831C |
unknown |
Het |
| Pik3c2b |
G |
A |
1: 133,027,453 (GRCm39) |
|
probably null |
Het |
| Plin2 |
T |
A |
4: 86,580,228 (GRCm39) |
I178F |
probably benign |
Het |
| Pramel32 |
A |
T |
4: 88,547,185 (GRCm39) |
L162H |
probably damaging |
Het |
| Prdm14 |
T |
A |
1: 13,192,855 (GRCm39) |
I295F |
probably damaging |
Het |
| Psmd5 |
C |
T |
2: 34,760,795 (GRCm39) |
R47H |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,733,342 (GRCm39) |
I744K |
probably damaging |
Het |
| Ptrh1 |
T |
A |
2: 32,666,557 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,277,627 (GRCm39) |
D49G |
probably damaging |
Het |
| Radil |
A |
T |
5: 142,470,994 (GRCm39) |
D1062E |
probably benign |
Het |
| Robo2 |
A |
G |
16: 74,149,726 (GRCm39) |
V34A |
possibly damaging |
Het |
| Sall3 |
G |
A |
18: 81,014,626 (GRCm39) |
P1029S |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,018,101 (GRCm39) |
D127G |
possibly damaging |
Het |
| Sel1l2 |
A |
G |
2: 140,086,086 (GRCm39) |
Y502H |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,656,010 (GRCm39) |
V406A |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,540,301 (GRCm39) |
D1040G |
probably damaging |
Het |
| Sgcd |
A |
G |
11: 46,870,262 (GRCm39) |
I233T |
possibly damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,820,410 (GRCm39) |
Q9R |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,336 (GRCm39) |
F389L |
probably damaging |
Het |
| Slc26a2 |
G |
T |
18: 61,331,330 (GRCm39) |
C700* |
probably null |
Het |
| Slc5a10 |
A |
T |
11: 61,610,708 (GRCm39) |
I22N |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slc6a12 |
A |
G |
6: 121,332,281 (GRCm39) |
D205G |
probably benign |
Het |
| Tas2r115 |
G |
A |
6: 132,714,124 (GRCm39) |
H276Y |
probably damaging |
Het |
| Tdpoz4 |
T |
A |
3: 93,704,318 (GRCm39) |
I205N |
probably damaging |
Het |
| Tfeb |
C |
T |
17: 48,096,904 (GRCm39) |
T33I |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,890,240 (GRCm39) |
T668A |
probably benign |
Het |
| Tnpo3 |
A |
G |
6: 29,582,259 (GRCm39) |
V201A |
probably benign |
Het |
| Tpcn1 |
T |
A |
5: 120,694,596 (GRCm39) |
M158L |
probably benign |
Het |
| Trim47 |
A |
C |
11: 115,996,918 (GRCm39) |
L612R |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,854,438 (GRCm39) |
L399* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,753,626 (GRCm39) |
S1293T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,582,941 (GRCm39) |
V22651I |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,455,871 (GRCm39) |
I300V |
probably benign |
Het |
| Uty |
T |
A |
Y: 1,136,883 (GRCm39) |
Q844L |
probably damaging |
Het |
| Vmn2r85 |
C |
T |
10: 130,254,990 (GRCm39) |
E565K |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,561 (GRCm39) |
V605A |
possibly damaging |
Het |
| Vwa3a |
T |
C |
7: 120,375,487 (GRCm39) |
V399A |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,159,107 (GRCm39) |
R508Q |
probably damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,830 (GRCm39) |
N457K |
possibly 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 |
|
|
R1939:Slc4a7
|
UTSW |
14 |
14,748,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTGCTACATGGAAGAAATGCTGAG -3'
(R):5'- GCCTTTGTGAGTATCTGCACTC -3'
Sequencing Primer
(F):5'- GCTGAGATATTACCACCTTGTACAG -3'
(R):5'- GAGTATCTGCACTCATGTACAAAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation