Incidental Mutation 'R4705:Slc4a7'
| ID |
355161 |
| 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 |
041953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R4705 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14733856 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 89
(S89T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000225979]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225630]
[ENSMUST00000225232]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000224222]
[ENSMUST00000224752]
[ENSMUST00000226079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: S89T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: S89T
| 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: S89T
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: S95T
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223740
AA Change: S95T
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: S89T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: S89T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224049
AA Change: S95T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: S108T
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225979
AA Change: S89T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224333
AA Change: S95T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225175
AA Change: S89T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
AA Change: S89T
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: S89T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: S95T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
AA Change: S89T
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
AA Change: S89T
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
AA Change: S94T
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226079
AA Change: S89T
PolyPhen 2
Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224197
|
| Meta Mutation Damage Score |
0.0742 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
96% (113/118) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
A |
G |
1: 183,765,369 (GRCm39) |
V230A |
possibly damaging |
Het |
| 2010315B03Rik |
T |
C |
9: 124,056,631 (GRCm39) |
T123A |
possibly damaging |
Het |
| Abca4 |
T |
C |
3: 121,899,019 (GRCm39) |
V667A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,929,040 (GRCm39) |
S4P |
possibly damaging |
Het |
| Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,994,270 (GRCm39) |
H5185N |
probably benign |
Het |
| Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
| Ascc1 |
A |
G |
10: 59,885,624 (GRCm39) |
Y225C |
probably damaging |
Het |
| Aspscr1 |
A |
T |
11: 120,579,771 (GRCm39) |
K39N |
possibly damaging |
Het |
| Atf7ip |
C |
T |
6: 136,538,192 (GRCm39) |
P483L |
probably damaging |
Het |
| Atp11a |
C |
G |
8: 12,863,118 (GRCm39) |
P99R |
probably damaging |
Het |
| B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
| Bag6 |
C |
A |
17: 35,361,319 (GRCm39) |
P476H |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,096,038 (GRCm39) |
T1108I |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,044,395 (GRCm39) |
K326E |
possibly damaging |
Het |
| Casp1 |
A |
G |
9: 5,306,204 (GRCm39) |
D363G |
probably damaging |
Het |
| Ccdc33 |
G |
T |
9: 58,024,840 (GRCm39) |
Q129K |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,372,586 (GRCm39) |
I107T |
probably benign |
Het |
| Cela2a |
T |
C |
4: 141,548,722 (GRCm39) |
N138S |
probably benign |
Het |
| Cfap61 |
A |
C |
2: 145,877,122 (GRCm39) |
R460S |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,345,612 (GRCm39) |
N579D |
possibly damaging |
Het |
| Col13a1 |
C |
A |
10: 61,685,944 (GRCm39) |
G683W |
unknown |
Het |
| Col4a2 |
G |
A |
8: 11,363,504 (GRCm39) |
R14Q |
possibly damaging |
Het |
| Cpa6 |
A |
G |
1: 10,551,283 (GRCm39) |
S164P |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,497,484 (GRCm39) |
N408S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,812,579 (GRCm39) |
T690A |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,835 (GRCm39) |
N280I |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,456,717 (GRCm39) |
R36C |
probably benign |
Het |
| Ddx51 |
T |
C |
5: 110,803,174 (GRCm39) |
V269A |
probably damaging |
Het |
| Dipk2a |
T |
C |
9: 94,402,688 (GRCm39) |
N325D |
possibly damaging |
Het |
| Dlst |
G |
T |
12: 85,165,616 (GRCm39) |
|
probably null |
Het |
| Dmkn |
G |
C |
7: 30,463,406 (GRCm39) |
A20P |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,304,948 (GRCm39) |
I330T |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,902,535 (GRCm39) |
H292Y |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,031,584 (GRCm39) |
D94G |
possibly damaging |
Het |
| Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
| Fam3d |
T |
C |
14: 8,349,347 (GRCm38) |
E201G |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,806,721 (GRCm39) |
K2230E |
probably benign |
Het |
| Frmd5 |
G |
T |
2: 121,393,344 (GRCm39) |
|
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,010,867 (GRCm39) |
S654L |
possibly damaging |
Het |
| Gltpd2 |
G |
T |
11: 70,410,966 (GRCm39) |
E86* |
probably null |
Het |
| Glyat |
T |
C |
19: 12,628,661 (GRCm39) |
L152P |
possibly damaging |
Het |
| Gm17330 |
T |
C |
12: 24,018,783 (GRCm39) |
T22A |
probably damaging |
Het |
| Gm9931 |
T |
A |
1: 147,157,591 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch1 |
A |
T |
7: 34,998,730 (GRCm39) |
|
probably null |
Het |
| Gpr4 |
T |
C |
7: 18,956,819 (GRCm39) |
L247P |
probably damaging |
Het |
| Gtpbp3 |
G |
A |
8: 71,943,758 (GRCm39) |
E214K |
probably benign |
Het |
| Hdac7 |
G |
T |
15: 97,709,468 (GRCm39) |
Q21K |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,729,247 (GRCm39) |
|
probably benign |
Het |
| Hk2 |
C |
T |
6: 82,716,631 (GRCm39) |
M300I |
possibly damaging |
Het |
| Ighv1-61 |
T |
C |
12: 115,322,899 (GRCm39) |
Y71C |
probably damaging |
Het |
| Il36b |
T |
C |
2: 24,044,630 (GRCm39) |
V10A |
probably benign |
Het |
| Inpp5f |
G |
T |
7: 128,265,711 (GRCm39) |
S152I |
probably damaging |
Het |
| Jag1 |
C |
A |
2: 136,938,229 (GRCm39) |
W257L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,272,315 (GRCm39) |
N612K |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 34,024,327 (GRCm39) |
D610G |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,046 (GRCm39) |
D247G |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,789,058 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
A |
G |
7: 139,510,036 (GRCm39) |
T1293A |
possibly damaging |
Het |
| Lpar5 |
T |
C |
6: 125,059,170 (GRCm39) |
I297T |
possibly damaging |
Het |
| Lpin2 |
T |
A |
17: 71,539,138 (GRCm39) |
|
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,412,934 (GRCm39) |
L114Q |
probably damaging |
Het |
| Mfsd4a |
A |
T |
1: 131,981,309 (GRCm39) |
L230Q |
probably damaging |
Het |
| Mmp8 |
T |
C |
9: 7,565,550 (GRCm39) |
V313A |
probably benign |
Het |
| Mrpl19 |
A |
T |
6: 81,941,266 (GRCm39) |
D98E |
probably damaging |
Het |
| Mybl1 |
A |
G |
1: 9,760,340 (GRCm39) |
I86T |
probably damaging |
Het |
| Nadk |
C |
A |
4: 155,669,684 (GRCm39) |
P157T |
probably benign |
Het |
| Necab1 |
T |
C |
4: 15,052,628 (GRCm39) |
T117A |
probably damaging |
Het |
| Nol11 |
A |
G |
11: 107,075,544 (GRCm39) |
|
probably benign |
Het |
| Nucb2 |
G |
A |
7: 116,139,262 (GRCm39) |
|
probably null |
Het |
| Nup58 |
G |
T |
14: 60,488,664 (GRCm39) |
P19T |
unknown |
Het |
| Odf2 |
T |
A |
2: 29,794,046 (GRCm39) |
L301Q |
probably damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,445 (GRCm39) |
Y234C |
probably benign |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
| Papln |
T |
C |
12: 83,823,982 (GRCm39) |
|
probably null |
Het |
| Paqr6 |
C |
T |
3: 88,273,236 (GRCm39) |
A76V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,494 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,743 (GRCm39) |
T93A |
possibly damaging |
Het |
| Pkdrej |
A |
T |
15: 85,705,368 (GRCm39) |
Y189* |
probably null |
Het |
| Pknox2 |
A |
T |
9: 36,834,934 (GRCm39) |
N178K |
possibly damaging |
Het |
| Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
| Plxnd1 |
A |
C |
6: 115,935,581 (GRCm39) |
L1735R |
probably damaging |
Het |
| Polm |
T |
A |
11: 5,787,663 (GRCm39) |
D30V |
possibly damaging |
Het |
| Rap1gap2 |
T |
A |
11: 74,328,265 (GRCm39) |
I100F |
probably damaging |
Het |
| Rasgef1c |
T |
A |
11: 49,869,294 (GRCm39) |
W414R |
probably benign |
Het |
| Rassf1 |
A |
G |
9: 107,435,066 (GRCm39) |
D187G |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,147,329 (GRCm39) |
I397T |
probably benign |
Het |
| Rnft2 |
A |
G |
5: 118,366,928 (GRCm39) |
F269S |
probably damaging |
Het |
| Rnmt |
T |
C |
18: 68,447,196 (GRCm39) |
F360S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,271,333 (GRCm39) |
A329T |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,247,084 (GRCm39) |
N501I |
possibly damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,050,660 (GRCm39) |
H2310Y |
probably benign |
Het |
| Tbc1d9b |
C |
A |
11: 50,031,289 (GRCm39) |
N103K |
probably benign |
Het |
| Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
| Tmem100 |
C |
T |
11: 89,926,389 (GRCm39) |
T72I |
probably damaging |
Het |
| Ttc38 |
A |
G |
15: 85,737,164 (GRCm39) |
T350A |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,177,840 (GRCm39) |
T3241M |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,964,214 (GRCm39) |
M350K |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,932,543 (GRCm39) |
I550T |
probably damaging |
Het |
| Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
| Zbtb12 |
T |
A |
17: 35,115,377 (GRCm39) |
H387Q |
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 |
|
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'- TGCGCTTTCTTGAATGTCATAC -3'
(R):5'- ACACTCATGCACCAGATTCTG -3'
Sequencing Primer
(F):5'- TCTTGAATGTCATACTTTCACTTTGG -3'
(R):5'- TAGACCCCGCTGTAGAAATGCTTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation