Incidental Mutation 'IGL02976:Slc5a4a'
| ID |
406403 |
| 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 # |
IGL02976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
76147451-76189265 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76170693 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 310
(V310M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020450
AA Change: V310M
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: V310M
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,939,646 (GRCm38) |
T84A |
possibly damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,131,597 (GRCm38) |
S288T |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,402,673 (GRCm38) |
D806E |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,623,896 (GRCm38) |
L79P |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,099,828 (GRCm38) |
C695* |
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,092,551 (GRCm38) |
N610S |
possibly damaging |
Het |
| Cdc40 |
A |
G |
10: 40,882,921 (GRCm38) |
V52A |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,121,368 (GRCm38) |
R369H |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,906,136 (GRCm38) |
P1031L |
probably damaging |
Het |
| Cldn34d |
C |
T |
X: 76,583,084 (GRCm38) |
A121T |
probably benign |
Het |
| Clmp |
A |
C |
9: 40,781,224 (GRCm38) |
Y263S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,099 (GRCm38) |
|
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,762,918 (GRCm38) |
M215K |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,619,320 (GRCm38) |
R233C |
probably damaging |
Het |
| Gcdh |
A |
C |
8: 84,888,578 (GRCm38) |
Y398D |
probably damaging |
Het |
| Gm26741 |
T |
G |
10: 52,358,814 (GRCm38) |
S16R |
possibly damaging |
Het |
| Jph3 |
T |
A |
8: 121,753,084 (GRCm38) |
L167Q |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,378,366 (GRCm38) |
V407A |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,269,063 (GRCm38) |
A117V |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 84,702,671 (GRCm38) |
P3L |
possibly damaging |
Het |
| Magi2 |
C |
T |
5: 20,534,475 (GRCm38) |
P349S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 119,401,485 (GRCm38) |
M177T |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,666,569 (GRCm38) |
K287E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,137,523 (GRCm38) |
H425L |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,447,777 (GRCm38) |
|
probably benign |
Het |
| Myo3a |
G |
A |
2: 22,542,452 (GRCm38) |
W825* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,287,484 (GRCm38) |
S17P |
probably damaging |
Het |
| Nrk |
A |
G |
X: 138,992,068 (GRCm38) |
I1174V |
probably benign |
Het |
| Or1e32 |
A |
G |
11: 73,814,317 (GRCm38) |
I255T |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,035,973 (GRCm38) |
Y256* |
probably null |
Het |
| Or4k2 |
G |
A |
14: 50,186,432 (GRCm38) |
Q262* |
probably null |
Het |
| Parpbp |
A |
G |
10: 88,111,594 (GRCm38) |
|
probably null |
Het |
| Pcdh10 |
T |
C |
3: 45,380,013 (GRCm38) |
V254A |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 147,913,321 (GRCm38) |
V644I |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,971,784 (GRCm38) |
V149A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,638,248 (GRCm38) |
E320G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 33,933,962 (GRCm38) |
D448E |
possibly damaging |
Het |
| Rnf32 |
C |
T |
5: 29,206,712 (GRCm38) |
|
probably null |
Het |
| Rpa1 |
T |
A |
11: 75,312,802 (GRCm38) |
D358V |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,851,842 (GRCm38) |
N747S |
probably damaging |
Het |
| Slc17a4 |
A |
C |
13: 23,905,424 (GRCm38) |
M170R |
probably damaging |
Het |
| Spag9 |
G |
A |
11: 94,083,953 (GRCm38) |
R463H |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,789,120 (GRCm38) |
V78E |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,641,971 (GRCm38) |
I538F |
probably benign |
Het |
| Syt10 |
A |
G |
15: 89,814,479 (GRCm38) |
S221P |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,721,591 (GRCm38) |
K579* |
probably null |
Het |
| Tubgcp3 |
T |
C |
8: 12,632,300 (GRCm38) |
Y673C |
probably damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,249,995 (GRCm38) |
F253S |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,468,998 (GRCm38) |
M14T |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,853,396 (GRCm38) |
D91G |
probably benign |
Het |
|
| Other mutations in Slc5a4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Slc5a4a
|
APN |
10 |
76,163,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Slc5a4a
|
APN |
10 |
76,181,674 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02629:Slc5a4a
|
APN |
10 |
76,147,579 (GRCm38) |
missense |
unknown |
|
|
IGL03255:Slc5a4a
|
APN |
10 |
76,150,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03258:Slc5a4a
|
APN |
10 |
76,150,552 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0054:Slc5a4a
|
UTSW |
10 |
76,178,197 (GRCm38) |
missense |
probably null |
0.00 |
|
R0244:Slc5a4a
|
UTSW |
10 |
76,189,152 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0398:Slc5a4a
|
UTSW |
10 |
76,182,722 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0799:Slc5a4a
|
UTSW |
10 |
76,176,534 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1160:Slc5a4a
|
UTSW |
10 |
76,178,161 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1471:Slc5a4a
|
UTSW |
10 |
76,186,528 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1720:Slc5a4a
|
UTSW |
10 |
76,189,269 (GRCm38) |
splice site |
probably null |
|
|
R1857:Slc5a4a
|
UTSW |
10 |
76,166,735 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1858:Slc5a4a
|
UTSW |
10 |
76,166,735 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1859:Slc5a4a
|
UTSW |
10 |
76,166,735 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1942:Slc5a4a
|
UTSW |
10 |
76,147,588 (GRCm38) |
missense |
unknown |
|
|
R2016:Slc5a4a
|
UTSW |
10 |
76,153,580 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2316:Slc5a4a
|
UTSW |
10 |
76,178,081 (GRCm38) |
splice site |
probably null |
|
|
R3420:Slc5a4a
|
UTSW |
10 |
76,176,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3421:Slc5a4a
|
UTSW |
10 |
76,176,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3422:Slc5a4a
|
UTSW |
10 |
76,176,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3845:Slc5a4a
|
UTSW |
10 |
76,189,149 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3874:Slc5a4a
|
UTSW |
10 |
76,181,655 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4523:Slc5a4a
|
UTSW |
10 |
76,148,362 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4537:Slc5a4a
|
UTSW |
10 |
76,178,095 (GRCm38) |
nonsense |
probably null |
|
|
R4538:Slc5a4a
|
UTSW |
10 |
76,178,095 (GRCm38) |
nonsense |
probably null |
|
|
R4755:Slc5a4a
|
UTSW |
10 |
76,186,564 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4868:Slc5a4a
|
UTSW |
10 |
76,178,231 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5135:Slc5a4a
|
UTSW |
10 |
76,147,594 (GRCm38) |
missense |
unknown |
|
|
R5254:Slc5a4a
|
UTSW |
10 |
76,182,738 (GRCm38) |
nonsense |
probably null |
|
|
R6083:Slc5a4a
|
UTSW |
10 |
76,147,597 (GRCm38) |
missense |
unknown |
|
|
R6331:Slc5a4a
|
UTSW |
10 |
76,178,200 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7591:Slc5a4a
|
UTSW |
10 |
76,147,667 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R7671:Slc5a4a
|
UTSW |
10 |
76,147,550 (GRCm38) |
missense |
unknown |
|
|
R8785:Slc5a4a
|
UTSW |
10 |
76,150,404 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R8929:Slc5a4a
|
UTSW |
10 |
76,170,783 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8993:Slc5a4a
|
UTSW |
10 |
76,186,535 (GRCm38) |
missense |
probably benign |
0.15 |
|
R9018:Slc5a4a
|
UTSW |
10 |
76,166,712 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9474:Slc5a4a
|
UTSW |
10 |
76,150,404 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R9567:Slc5a4a
|
UTSW |
10 |
76,186,562 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9648:Slc5a4a
|
UTSW |
10 |
76,166,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc5a4a
|
UTSW |
10 |
76,182,847 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Slc5a4a
|
UTSW |
10 |
76,166,744 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation