Incidental Mutation 'R7180:Slc4a7'
| ID |
558934 |
| 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 |
045233-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R7180 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 14765580 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 521
(A521T)
|
| 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]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: A521T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: A521T
| 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: A633T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223695
AA Change: A534T
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: A527T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: A644T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223771
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: A646T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224049
AA Change: A514T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224222
AA Change: A633T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224333
AA Change: A652T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: A637T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224752
AA Change: A638T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225175
AA Change: A631T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: A508T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225238
AA Change: A541T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225630
AA Change: A508T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225979
AA Change: A528T
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226079
AA Change: A521T
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
C |
4: 49,381,803 (GRCm39) |
Y196* |
probably null |
Het |
| Agrn |
C |
T |
4: 156,256,296 (GRCm39) |
R1405H |
probably benign |
Het |
| Agtpbp1 |
G |
A |
13: 59,613,852 (GRCm39) |
H1030Y |
probably benign |
Het |
| Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
G |
C |
14: 55,341,908 (GRCm39) |
P218R |
probably damaging |
Het |
| Ap2a1 |
C |
T |
7: 44,573,228 (GRCm39) |
|
probably null |
Het |
| Apc2 |
T |
A |
10: 80,146,990 (GRCm39) |
D681E |
possibly damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,252,142 (GRCm39) |
N964K |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
T |
A |
17: 24,442,889 (GRCm39) |
M773L |
probably benign |
Het |
| Ces1e |
A |
C |
8: 93,941,772 (GRCm39) |
S234A |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,029,576 (GRCm39) |
E552V |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 172,947,770 (GRCm39) |
|
probably null |
Het |
| Dkk2 |
T |
A |
3: 131,791,953 (GRCm39) |
S54T |
probably damaging |
Het |
| Dll1 |
A |
G |
17: 15,595,131 (GRCm39) |
S49P |
probably benign |
Het |
| Dscam |
C |
A |
16: 96,626,764 (GRCm39) |
A382S |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,306,535 (GRCm39) |
I332N |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,088,155 (GRCm39) |
M1020L |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,796,535 (GRCm39) |
S118R |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,928 (GRCm39) |
D202G |
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,456,072 (GRCm39) |
I803N |
possibly damaging |
Het |
| Etv2 |
C |
A |
7: 30,335,074 (GRCm39) |
G28V |
probably damaging |
Het |
| Fadd |
A |
T |
7: 144,134,522 (GRCm39) |
V121E |
probably damaging |
Het |
| Fam149b |
T |
C |
14: 20,431,853 (GRCm39) |
Y545H |
probably benign |
Het |
| Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,110,140 (GRCm39) |
S723P |
unknown |
Het |
| Gm4884 |
C |
T |
7: 40,693,633 (GRCm39) |
T534I |
possibly damaging |
Het |
| Gpbar1 |
A |
T |
1: 74,317,792 (GRCm39) |
I12F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,712,021 (GRCm39) |
L219* |
probably null |
Het |
| Hdgfl2 |
T |
A |
17: 56,404,532 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,446,405 (GRCm39) |
M200V |
probably benign |
Het |
| Idua |
A |
G |
5: 108,828,761 (GRCm39) |
N335S |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,302 (GRCm39) |
F385Y |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,411,606 (GRCm39) |
D1624G |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,233,964 (GRCm39) |
T388S |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,369,873 (GRCm39) |
K526E |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,811 (GRCm39) |
I237V |
probably benign |
Het |
| Kat5 |
C |
A |
19: 5,653,989 (GRCm39) |
K398N |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,175,283 (GRCm39) |
V398E |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,392,834 (GRCm39) |
N2744D |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,901,459 (GRCm39) |
I588T |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,215,382 (GRCm39) |
F418L |
probably damaging |
Het |
| Magi1 |
T |
A |
6: 93,792,731 (GRCm39) |
D169V |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,253,988 (GRCm39) |
E1048G |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,692,110 (GRCm39) |
I150V |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,337,236 (GRCm39) |
M1006K |
probably benign |
Het |
| Nkain1 |
C |
T |
4: 130,533,925 (GRCm38) |
V132I |
probably benign |
Het |
| Npy6r |
A |
T |
18: 44,409,223 (GRCm39) |
M215L |
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,635,592 (GRCm39) |
Q231L |
probably damaging |
Het |
| Obox5 |
C |
T |
7: 15,491,849 (GRCm39) |
P88L |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,425,186 (GRCm39) |
S7P |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,811 (GRCm39) |
T63A |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,376,209 (GRCm39) |
S1309C |
probably damaging |
Het |
| Pex5l |
C |
T |
3: 33,078,840 (GRCm39) |
|
probably null |
Het |
| Pip |
T |
A |
6: 41,824,565 (GRCm39) |
C18S |
probably damaging |
Het |
| Pla2g7 |
C |
T |
17: 43,909,967 (GRCm39) |
T157M |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,768,229 (GRCm39) |
Y2168C |
probably damaging |
Het |
| Rgs2 |
T |
C |
1: 143,877,886 (GRCm39) |
T137A |
probably benign |
Het |
| Rpl32 |
T |
A |
6: 115,784,768 (GRCm39) |
I31F |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,701,864 (GRCm39) |
Y2931C |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,194,095 (GRCm39) |
E192K |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,701,818 (GRCm39) |
E1058G |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,939,600 (GRCm39) |
T679A |
probably benign |
Het |
| Tas2r130 |
A |
C |
6: 131,607,211 (GRCm39) |
S195A |
probably benign |
Het |
| Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
| Terf2ip |
G |
T |
8: 112,738,052 (GRCm39) |
|
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,528,656 (GRCm39) |
R136K |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,764,886 (GRCm39) |
L858P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,626,770 (GRCm39) |
D1466G |
possibly damaging |
Het |
| Trip4 |
A |
T |
9: 65,764,627 (GRCm39) |
L446Q |
probably damaging |
Het |
| Trpv3 |
G |
T |
11: 73,168,818 (GRCm39) |
V93L |
probably benign |
Het |
| Ubl4b |
A |
T |
3: 107,461,962 (GRCm39) |
H99Q |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,979,569 (GRCm39) |
|
probably null |
Het |
| Vmn1r47 |
G |
T |
6: 89,999,335 (GRCm39) |
A156S |
probably damaging |
Het |
| Vmn2r33 |
T |
A |
7: 7,566,896 (GRCm39) |
H72L |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
| Zfp628 |
C |
A |
7: 4,924,063 (GRCm39) |
Q762K |
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 |
|
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 |
|
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 |
|
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'- GGACTTTCCTTGATGTGCTTGATAC -3'
(R):5'- CATACAGCTGAGTGTTGTTCAC -3'
Sequencing Primer
(F):5'- GTGCTTGATACATTTGTAATTCCCC -3'
(R):5'- GTTGTTCACAAACAGCACAATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation