Incidental Mutation 'R1672:Slc4a7'
| ID |
187740 |
| 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 |
039708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R1672 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14760247 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 561
(I561V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000224222]
[ENSMUST00000225979]
[ENSMUST00000224752]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000224049]
[ENSMUST00000225630]
[ENSMUST00000226079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057015
AA Change: I430V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: I430V
| 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: I542V
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: I443V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
AA Change: I436V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223761
AA Change: I553V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223771
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223981
AA Change: I555V
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224333
AA Change: I561V
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
AA Change: I540V
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225232
AA Change: I417V
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
AA Change: I542V
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
AA Change: I437V
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
AA Change: I547V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224672
AA Change: I546V
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
AA Change: I450V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224049
AA Change: I423V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: I469V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
AA Change: I417V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
AA Change: I430V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
G |
A |
16: 88,424,096 (GRCm39) |
Q132* |
probably null |
Het |
| Aadacl4 |
T |
A |
4: 144,349,889 (GRCm39) |
L382* |
probably null |
Het |
| Afg3l2 |
A |
G |
18: 67,540,493 (GRCm39) |
I672T |
probably benign |
Het |
| Aftph |
A |
T |
11: 20,676,762 (GRCm39) |
D282E |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,920,930 (GRCm39) |
N161S |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,414,030 (GRCm39) |
E1562K |
probably damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Apobr |
A |
G |
7: 126,186,723 (GRCm39) |
R745G |
probably benign |
Het |
| Arrdc5 |
T |
C |
17: 56,607,144 (GRCm39) |
T34A |
possibly damaging |
Het |
| Astl |
T |
C |
2: 127,189,163 (GRCm39) |
L163P |
probably damaging |
Het |
| Atf7ip2 |
A |
T |
16: 10,027,005 (GRCm39) |
H91L |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,151,092 (GRCm39) |
S1073T |
possibly damaging |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,503 (GRCm39) |
I134L |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,747,520 (GRCm39) |
|
probably null |
Het |
| Capn9 |
A |
G |
8: 125,340,570 (GRCm39) |
N578S |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,245,842 (GRCm39) |
D166E |
probably damaging |
Het |
| Ccr1l1 |
A |
T |
9: 123,777,544 (GRCm39) |
I301N |
probably damaging |
Het |
| Chtop |
T |
A |
3: 90,414,874 (GRCm39) |
T15S |
probably damaging |
Het |
| Coq5 |
T |
A |
5: 115,417,975 (GRCm39) |
|
probably null |
Het |
| Crbn |
G |
A |
6: 106,772,886 (GRCm39) |
P34L |
probably damaging |
Het |
| Crisp1 |
G |
T |
17: 40,619,760 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cyp4f14 |
A |
T |
17: 33,128,210 (GRCm39) |
D268E |
probably benign |
Het |
| D5Ertd579e |
T |
C |
5: 36,770,621 (GRCm39) |
D1258G |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,194,872 (GRCm39) |
S531P |
probably benign |
Het |
| Defb25 |
T |
C |
2: 152,464,410 (GRCm39) |
M45V |
probably benign |
Het |
| Dffa |
T |
C |
4: 149,190,702 (GRCm39) |
L77P |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,601,164 (GRCm39) |
Q361R |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 30,998,157 (GRCm39) |
L2560P |
probably damaging |
Het |
| Fabp5 |
A |
G |
3: 10,080,601 (GRCm39) |
T108A |
probably benign |
Het |
| Fam149a |
T |
G |
8: 45,792,411 (GRCm39) |
|
probably null |
Het |
| Fam20c |
A |
G |
5: 138,793,056 (GRCm39) |
Y430C |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,489,872 (GRCm39) |
T3595A |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,015,245 (GRCm39) |
Y245H |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,917,128 (GRCm39) |
R605H |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,292 (GRCm39) |
I1058T |
unknown |
Het |
| Fyb2 |
A |
G |
4: 104,808,059 (GRCm39) |
K373R |
probably benign |
Het |
| Ggta1 |
A |
T |
2: 35,292,145 (GRCm39) |
Y387* |
probably null |
Het |
| Gm18856 |
T |
C |
13: 14,140,342 (GRCm39) |
|
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,752,966 (GRCm39) |
S282P |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,247,712 (GRCm39) |
I552F |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,074,653 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
C |
13: 42,313,760 (GRCm39) |
V2000A |
probably damaging |
Het |
| Ipo5 |
C |
T |
14: 121,170,714 (GRCm39) |
L466F |
probably damaging |
Het |
| Itgb1 |
G |
A |
8: 129,458,526 (GRCm39) |
S785N |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,307,987 (GRCm39) |
R258K |
probably benign |
Het |
| Kcnk12 |
A |
G |
17: 88,053,747 (GRCm39) |
V305A |
probably benign |
Het |
| Klf5 |
C |
T |
14: 99,538,986 (GRCm39) |
T133I |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,399,128 (GRCm39) |
I178T |
probably damaging |
Het |
| Lyrm4 |
A |
T |
13: 36,276,907 (GRCm39) |
M30K |
probably benign |
Het |
| Mpv17 |
A |
G |
5: 31,311,063 (GRCm39) |
Y7H |
probably damaging |
Het |
| Mrps22 |
T |
C |
9: 98,478,869 (GRCm39) |
|
probably null |
Het |
| Myof |
A |
T |
19: 37,931,927 (GRCm39) |
W967R |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,559,657 (GRCm39) |
D1116N |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,781 (GRCm39) |
T57A |
probably benign |
Het |
| Or6c66b |
C |
A |
10: 129,376,561 (GRCm39) |
H52N |
probably benign |
Het |
| Or8g50 |
G |
A |
9: 39,648,492 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or9k2b |
T |
C |
10: 130,016,261 (GRCm39) |
T163A |
probably benign |
Het |
| Ovol2 |
T |
C |
2: 144,147,710 (GRCm39) |
Y180C |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,202,337 (GRCm39) |
S418G |
probably benign |
Het |
| Pcdh1 |
T |
C |
18: 38,325,233 (GRCm39) |
E903G |
probably damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,713 (GRCm39) |
Y315F |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,676,085 (GRCm39) |
L891P |
probably damaging |
Het |
| Potefam1 |
T |
A |
2: 111,051,119 (GRCm39) |
M226L |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,666,429 (GRCm39) |
M378I |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,143,491 (GRCm39) |
|
probably null |
Het |
| Prm3 |
T |
C |
16: 10,608,563 (GRCm39) |
E64G |
possibly damaging |
Het |
| Prmt6 |
T |
C |
3: 110,157,887 (GRCm39) |
D134G |
possibly damaging |
Het |
| Prss42 |
G |
A |
9: 110,629,996 (GRCm39) |
G250D |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,834,747 (GRCm39) |
V63I |
probably benign |
Het |
| Rbm17 |
T |
C |
2: 11,590,530 (GRCm39) |
D375G |
possibly damaging |
Het |
| Rhbdl1 |
A |
T |
17: 26,055,383 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,584 (GRCm39) |
D128E |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,015,653 (GRCm39) |
K850R |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,513 (GRCm39) |
I624T |
probably benign |
Het |
| Rrp36 |
A |
T |
17: 46,983,340 (GRCm39) |
D91E |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,634,775 (GRCm39) |
Y50* |
probably null |
Het |
| Sh2d4b |
A |
G |
14: 40,614,921 (GRCm39) |
M1T |
probably null |
Het |
| Slc7a12 |
T |
C |
3: 14,564,337 (GRCm39) |
V70A |
possibly damaging |
Het |
| Slfnl1 |
A |
T |
4: 120,392,972 (GRCm39) |
I355F |
probably damaging |
Het |
| Spata2 |
C |
T |
2: 167,325,439 (GRCm39) |
R460H |
probably damaging |
Het |
| Stk11ip |
C |
T |
1: 75,505,629 (GRCm39) |
Q433* |
probably null |
Het |
| Susd1 |
T |
C |
4: 59,411,395 (GRCm39) |
Y146C |
probably damaging |
Het |
| Susd5 |
A |
T |
9: 113,897,890 (GRCm39) |
D115V |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,029 (GRCm39) |
V20E |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,712,651 (GRCm39) |
Y694C |
possibly damaging |
Het |
| Tmem131 |
T |
C |
1: 36,863,840 (GRCm39) |
E640G |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,068,342 (GRCm39) |
T1782A |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,892,214 (GRCm39) |
L249P |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,957,164 (GRCm39) |
I478T |
probably damaging |
Het |
| Upf2 |
T |
A |
2: 6,044,908 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,584,285 (GRCm39) |
C566S |
probably damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,262 (GRCm39) |
N164S |
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,112 (GRCm39) |
V245E |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,630,459 (GRCm39) |
F506Y |
possibly damaging |
Het |
| Wnt8b |
T |
C |
19: 44,499,715 (GRCm39) |
F155L |
probably damaging |
Het |
| Xrra1 |
A |
T |
7: 99,547,647 (GRCm39) |
I279F |
probably benign |
Het |
| Zfp229 |
T |
C |
17: 21,964,828 (GRCm39) |
S353P |
probably damaging |
Het |
| Zfp607b |
C |
T |
7: 27,391,948 (GRCm39) |
H8Y |
possibly damaging |
Het |
| Zfp933 |
A |
T |
4: 147,910,476 (GRCm39) |
H373Q |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,060,982 (GRCm39) |
L546P |
probably benign |
Het |
| Zfp988 |
C |
T |
4: 147,415,739 (GRCm39) |
R58C |
probably benign |
Het |
| Zkscan14 |
C |
T |
5: 145,138,464 (GRCm39) |
V8I |
probably benign |
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 |
|
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 |
|
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'- CTTTGGGAGAGTGTTCATAGCTAGgc -3'
(R):5'- TTGAGGAGTTAAAGACTGCTGGTGC -3'
Sequencing Primer
(F):5'- gttcctccattgtctttgttcc -3'
(R):5'- AAAGACTGCTGGTGCCTTTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation