Incidental Mutation 'IGL03255:Slc5a4a'
| ID |
414629 |
| 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: 0.074)
|
| Stock # |
IGL03255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75983285-76025099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75986346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 85
(V85M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020450
AA Change: V85M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: V85M
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
A |
G |
1: 158,796,921 (GRCm39) |
|
noncoding transcript |
Het |
| Alpk3 |
A |
G |
7: 80,742,310 (GRCm39) |
D709G |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,320,189 (GRCm39) |
R309L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,884,086 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,184,960 (GRCm39) |
Y162* |
probably null |
Het |
| Defa26 |
A |
T |
8: 22,108,257 (GRCm39) |
D20V |
probably damaging |
Het |
| Defa39 |
T |
C |
8: 22,193,534 (GRCm39) |
T29A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 30,960,355 (GRCm39) |
L2244R |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,700,191 (GRCm39) |
N353I |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,525,331 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,866,621 (GRCm39) |
|
probably null |
Het |
| Gm10220 |
A |
G |
5: 26,321,899 (GRCm39) |
S258P |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,760 (GRCm39) |
D845V |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,084,051 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Nelfb |
G |
T |
2: 25,093,207 (GRCm39) |
H482N |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,725 (GRCm39) |
L246P |
possibly damaging |
Het |
| Or5p58 |
A |
G |
7: 107,694,024 (GRCm39) |
V251A |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
| Slc6a12 |
T |
G |
6: 121,331,246 (GRCm39) |
C166G |
probably damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,507,618 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,682,894 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,540 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,419,341 (GRCm39) |
I73F |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,911 (GRCm39) |
M168V |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,131 (GRCm39) |
M819K |
probably benign |
Het |
| Vmo1 |
C |
T |
11: 70,405,236 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,855,936 (GRCm39) |
D104G |
probably benign |
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 |
|
IGL01725:Slc5a4a
|
APN |
10 |
76,017,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Slc5a4a
|
APN |
10 |
75,983,413 (GRCm39) |
missense |
unknown |
|
|
IGL02976:Slc5a4a
|
APN |
10 |
76,006,527 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
2016-08-02 |
Incidental Mutation