Incidental Mutation 'IGL01725:Slc5a4a'
ID |
105249 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc5a4a
|
Ensembl Gene |
ENSMUSG00000020229 |
Gene Name |
solute carrier family 5, member 4a |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
IGL01725
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
75983285-76025099 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76017508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 435
(V435A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020450]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020450
AA Change: V435A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020450 Gene: ENSMUSG00000020229 AA Change: V435A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
492 |
4e-161 |
PFAM |
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
transmembrane domain
|
636 |
655 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,853,767 (GRCm39) |
I297F |
probably damaging |
Het |
Abcc4 |
A |
T |
14: 118,738,241 (GRCm39) |
L1170I |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,781,206 (GRCm39) |
D2086G |
probably benign |
Het |
Arhgap11a |
A |
T |
2: 113,667,897 (GRCm39) |
V368D |
probably damaging |
Het |
Ccdc138 |
A |
G |
10: 58,364,745 (GRCm39) |
T334A |
possibly damaging |
Het |
Ctnna2 |
T |
C |
6: 77,618,348 (GRCm39) |
R205G |
possibly damaging |
Het |
Galnt4 |
A |
G |
10: 98,945,819 (GRCm39) |
M515V |
probably damaging |
Het |
Grhl1 |
T |
C |
12: 24,659,747 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,065,245 (GRCm39) |
T145A |
probably benign |
Het |
Kntc1 |
G |
A |
5: 123,902,253 (GRCm39) |
V299I |
probably benign |
Het |
Lin28a |
G |
A |
4: 133,735,241 (GRCm39) |
R52* |
probably null |
Het |
Mast4 |
A |
T |
13: 102,887,020 (GRCm39) |
|
probably null |
Het |
Nme4 |
G |
A |
17: 26,311,040 (GRCm39) |
A175V |
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,265,982 (GRCm39) |
M136L |
probably benign |
Het |
Or51ah3 |
T |
A |
7: 103,210,282 (GRCm39) |
Y199* |
probably null |
Het |
Pi16 |
T |
A |
17: 29,545,294 (GRCm39) |
S186T |
probably damaging |
Het |
Pigc |
T |
A |
1: 161,798,914 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
A |
T |
2: 72,005,218 (GRCm39) |
I222L |
probably benign |
Het |
Scap |
T |
A |
9: 110,210,622 (GRCm39) |
|
probably benign |
Het |
Sec24a |
A |
C |
11: 51,614,405 (GRCm39) |
|
probably null |
Het |
Sh3tc1 |
T |
C |
5: 35,857,660 (GRCm39) |
E1176G |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,104,645 (GRCm39) |
D255E |
probably benign |
Het |
Slc16a9 |
T |
C |
10: 70,119,815 (GRCm39) |
M486T |
probably benign |
Het |
Slc28a3 |
A |
G |
13: 58,726,324 (GRCm39) |
F155S |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,693,155 (GRCm39) |
R324G |
probably damaging |
Het |
Tas2r120 |
C |
T |
6: 132,634,052 (GRCm39) |
R45* |
probably null |
Het |
Tfcp2l1 |
T |
C |
1: 118,596,366 (GRCm39) |
V367A |
possibly damaging |
Het |
Vmn2r116 |
A |
T |
17: 23,605,619 (GRCm39) |
D177V |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,208,594 (GRCm39) |
S628P |
probably damaging |
Het |
|
Other mutations in Slc5a4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00670:Slc5a4a
|
APN |
10 |
75,999,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02629:Slc5a4a
|
APN |
10 |
75,983,413 (GRCm39) |
missense |
unknown |
|
IGL02976:Slc5a4a
|
APN |
10 |
76,006,527 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03255:Slc5a4a
|
APN |
10 |
75,986,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03258:Slc5a4a
|
APN |
10 |
75,986,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0054:Slc5a4a
|
UTSW |
10 |
76,014,031 (GRCm39) |
missense |
probably null |
0.00 |
R0244:Slc5a4a
|
UTSW |
10 |
76,024,986 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0398:Slc5a4a
|
UTSW |
10 |
76,018,556 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0799:Slc5a4a
|
UTSW |
10 |
76,012,368 (GRCm39) |
missense |
probably benign |
0.00 |
R1160:Slc5a4a
|
UTSW |
10 |
76,013,995 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1471:Slc5a4a
|
UTSW |
10 |
76,022,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R1720:Slc5a4a
|
UTSW |
10 |
76,025,103 (GRCm39) |
splice site |
probably null |
|
R1857:Slc5a4a
|
UTSW |
10 |
76,002,569 (GRCm39) |
missense |
probably benign |
0.27 |
R1858:Slc5a4a
|
UTSW |
10 |
76,002,569 (GRCm39) |
missense |
probably benign |
0.27 |
R1859:Slc5a4a
|
UTSW |
10 |
76,002,569 (GRCm39) |
missense |
probably benign |
0.27 |
R1942:Slc5a4a
|
UTSW |
10 |
75,983,422 (GRCm39) |
missense |
unknown |
|
R2016:Slc5a4a
|
UTSW |
10 |
75,989,414 (GRCm39) |
missense |
probably benign |
0.00 |
R2316:Slc5a4a
|
UTSW |
10 |
76,013,915 (GRCm39) |
splice site |
probably null |
|
R3420:Slc5a4a
|
UTSW |
10 |
76,012,407 (GRCm39) |
missense |
probably benign |
0.00 |
R3421:Slc5a4a
|
UTSW |
10 |
76,012,407 (GRCm39) |
missense |
probably benign |
0.00 |
R3422:Slc5a4a
|
UTSW |
10 |
76,012,407 (GRCm39) |
missense |
probably benign |
0.00 |
R3845:Slc5a4a
|
UTSW |
10 |
76,024,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R3874:Slc5a4a
|
UTSW |
10 |
76,017,489 (GRCm39) |
missense |
probably benign |
0.42 |
R4523:Slc5a4a
|
UTSW |
10 |
75,984,196 (GRCm39) |
missense |
probably damaging |
0.99 |
R4537:Slc5a4a
|
UTSW |
10 |
76,013,929 (GRCm39) |
nonsense |
probably null |
|
R4538:Slc5a4a
|
UTSW |
10 |
76,013,929 (GRCm39) |
nonsense |
probably null |
|
R4755:Slc5a4a
|
UTSW |
10 |
76,022,398 (GRCm39) |
missense |
probably benign |
0.00 |
R4868:Slc5a4a
|
UTSW |
10 |
76,014,065 (GRCm39) |
missense |
probably damaging |
0.98 |
R5135:Slc5a4a
|
UTSW |
10 |
75,983,428 (GRCm39) |
missense |
unknown |
|
R5254:Slc5a4a
|
UTSW |
10 |
76,018,572 (GRCm39) |
nonsense |
probably null |
|
R6083:Slc5a4a
|
UTSW |
10 |
75,983,431 (GRCm39) |
missense |
unknown |
|
R6331:Slc5a4a
|
UTSW |
10 |
76,014,034 (GRCm39) |
missense |
probably damaging |
0.98 |
R7591:Slc5a4a
|
UTSW |
10 |
75,983,501 (GRCm39) |
critical splice donor site |
probably benign |
|
R7671:Slc5a4a
|
UTSW |
10 |
75,983,384 (GRCm39) |
missense |
unknown |
|
R8785:Slc5a4a
|
UTSW |
10 |
75,986,238 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8929:Slc5a4a
|
UTSW |
10 |
76,006,617 (GRCm39) |
missense |
probably benign |
0.27 |
R8993:Slc5a4a
|
UTSW |
10 |
76,022,369 (GRCm39) |
missense |
probably benign |
0.15 |
R9018:Slc5a4a
|
UTSW |
10 |
76,002,546 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9474:Slc5a4a
|
UTSW |
10 |
75,986,238 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9567:Slc5a4a
|
UTSW |
10 |
76,022,396 (GRCm39) |
missense |
probably benign |
0.08 |
R9648:Slc5a4a
|
UTSW |
10 |
76,002,608 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc5a4a
|
UTSW |
10 |
76,018,681 (GRCm39) |
nonsense |
probably null |
|
Z1177:Slc5a4a
|
UTSW |
10 |
76,002,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-01-21 |