Incidental Mutation 'IGL02737:Slc5a6'
| ID |
305718 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc5a6
|
| Ensembl Gene |
ENSMUSG00000006641 |
| Gene Name |
solute carrier family 5 (sodium-dependent vitamin transporter), member 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31194511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 565
(P565L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
| AlphaFold |
Q5U4D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080431
AA Change: P565L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: P565L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114668
AA Change: P565L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: P565L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202520
AA Change: P565L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: P565L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202556
AA Change: P565L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: P565L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202984
|
| SMART Domains |
Protein: ENSMUSP00000144349
Gene: ENSMUSG00000006641
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
2 |
104 |
6.3e-15 |
PFAM |
|
transmembrane domain
|
158 |
180 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,566,904 (GRCm39) |
H434Q |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,555 (GRCm39) |
I50L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,981,957 (GRCm39) |
M1080I |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,884,577 (GRCm39) |
K540R |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,064,712 (GRCm39) |
M585V |
probably benign |
Het |
| C3 |
A |
G |
17: 57,511,281 (GRCm39) |
L1607P |
probably benign |
Het |
| C6 |
A |
G |
15: 4,826,396 (GRCm39) |
K660E |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,549,419 (GRCm39) |
T1329A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,888,268 (GRCm39) |
N499I |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,560 (GRCm39) |
D762G |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,394 (GRCm39) |
R746G |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,187,933 (GRCm39) |
Q198L |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,135,142 (GRCm39) |
Q9L |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,422,057 (GRCm39) |
F112L |
probably damaging |
Het |
| Fam180a |
C |
A |
6: 35,290,488 (GRCm39) |
R165L |
probably benign |
Het |
| Fkbp10 |
A |
C |
11: 100,313,481 (GRCm39) |
I252L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,310,918 (GRCm39) |
Q410K |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,439,579 (GRCm39) |
Y5535C |
probably damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,469,369 (GRCm39) |
D372E |
probably benign |
Het |
| Il3ra |
A |
G |
14: 14,350,760 (GRCm38) |
N165S |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,957,183 (GRCm39) |
N2164S |
probably benign |
Het |
| Krtap19-9a |
A |
G |
16: 88,721,099 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
T |
A |
10: 83,200,309 (GRCm39) |
M90K |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,664 (GRCm39) |
H153L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,764,177 (GRCm39) |
S4217P |
unknown |
Het |
| Ppfibp1 |
G |
A |
6: 146,928,806 (GRCm39) |
V798I |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,170,775 (GRCm39) |
R165* |
probably null |
Het |
| Ptges |
T |
C |
2: 30,782,698 (GRCm39) |
Y118C |
probably damaging |
Het |
| Rab11fip5 |
C |
A |
6: 85,325,540 (GRCm39) |
G289W |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,468,506 (GRCm39) |
D69G |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,044 (GRCm39) |
|
probably benign |
Het |
| Sncaip |
C |
A |
18: 53,040,128 (GRCm39) |
T774K |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,849,431 (GRCm39) |
L908F |
possibly damaging |
Het |
| Specc1l |
G |
A |
10: 75,082,158 (GRCm39) |
S535N |
probably damaging |
Het |
| Tbk1 |
C |
T |
10: 121,395,767 (GRCm39) |
G442E |
probably null |
Het |
| Thoc7 |
A |
T |
14: 13,953,443 (GRCm38) |
M78K |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,966,937 (GRCm39) |
F461S |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,911 (GRCm39) |
I308L |
possibly damaging |
Het |
| Zhx2 |
C |
A |
15: 57,685,663 (GRCm39) |
T344N |
probably damaging |
Het |
|
| Other mutations in Slc5a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Slc5a6
|
APN |
5 |
31,196,279 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02305:Slc5a6
|
APN |
5 |
31,195,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02457:Slc5a6
|
APN |
5 |
31,198,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Slc5a6
|
APN |
5 |
31,199,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03277:Slc5a6
|
APN |
5 |
31,195,372 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03389:Slc5a6
|
APN |
5 |
31,194,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Burke
|
UTSW |
5 |
31,194,228 (GRCm39) |
nonsense |
probably null |
|
|
whig
|
UTSW |
5 |
31,194,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Slc5a6
|
UTSW |
5 |
31,199,957 (GRCm39) |
splice site |
probably null |
|
|
R1177:Slc5a6
|
UTSW |
5 |
31,196,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1505:Slc5a6
|
UTSW |
5 |
31,194,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1680:Slc5a6
|
UTSW |
5 |
31,199,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Slc5a6
|
UTSW |
5 |
31,198,020 (GRCm39) |
nonsense |
probably null |
|
|
R1881:Slc5a6
|
UTSW |
5 |
31,194,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Slc5a6
|
UTSW |
5 |
31,196,679 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3803:Slc5a6
|
UTSW |
5 |
31,200,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4250:Slc5a6
|
UTSW |
5 |
31,195,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4765:Slc5a6
|
UTSW |
5 |
31,195,427 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4821:Slc5a6
|
UTSW |
5 |
31,194,228 (GRCm39) |
nonsense |
probably null |
|
|
R5187:Slc5a6
|
UTSW |
5 |
31,200,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Slc5a6
|
UTSW |
5 |
31,200,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Slc5a6
|
UTSW |
5 |
31,195,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5806:Slc5a6
|
UTSW |
5 |
31,198,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Slc5a6
|
UTSW |
5 |
31,206,168 (GRCm39) |
unclassified |
probably benign |
|
|
R6035:Slc5a6
|
UTSW |
5 |
31,206,168 (GRCm39) |
unclassified |
probably benign |
|
|
R6615:Slc5a6
|
UTSW |
5 |
31,194,174 (GRCm39) |
missense |
probably benign |
|
|
R6621:Slc5a6
|
UTSW |
5 |
31,198,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6983:Slc5a6
|
UTSW |
5 |
31,197,749 (GRCm39) |
missense |
probably benign |
|
|
R7989:Slc5a6
|
UTSW |
5 |
31,199,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8433:Slc5a6
|
UTSW |
5 |
31,194,806 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9180:Slc5a6
|
UTSW |
5 |
31,195,190 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9390:Slc5a6
|
UTSW |
5 |
31,197,803 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9628:Slc5a6
|
UTSW |
5 |
31,197,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7581:Slc5a6
|
UTSW |
5 |
31,199,957 (GRCm39) |
splice site |
probably null |
|
|
X0022:Slc5a6
|
UTSW |
5 |
31,200,682 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
Z1176:Slc5a6
|
UTSW |
5 |
31,195,369 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation