Incidental Mutation 'IGL00957:Slc5a6'
| ID |
27479 |
| 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 # |
IGL00957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 31196279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000200816]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
| AlphaFold |
Q5U4D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080431
|
| SMART Domains |
Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
| 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: ENSMUST00000200816
|
| SMART Domains |
Protein: ENSMUSP00000144665
Gene: ENSMUSG00000006641
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202520
|
| SMART Domains |
Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,573,470 (GRCm39) |
I246N |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,130,951 (GRCm39) |
L240P |
probably damaging |
Het |
| Ago4 |
C |
T |
4: 126,410,926 (GRCm39) |
V188I |
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,364,838 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
A |
G |
11: 31,823,204 (GRCm39) |
Y306C |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,269,771 (GRCm39) |
E272G |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,267,488 (GRCm39) |
V5155I |
probably benign |
Het |
| Fabp12 |
C |
T |
3: 10,315,273 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hpcal1 |
G |
A |
12: 17,837,591 (GRCm39) |
E142K |
probably benign |
Het |
| Hspa4 |
G |
A |
11: 53,171,514 (GRCm39) |
T230I |
probably benign |
Het |
| Htt |
T |
C |
5: 34,964,068 (GRCm39) |
V387A |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,025,747 (GRCm39) |
|
probably benign |
Het |
| Lrrc30 |
G |
A |
17: 67,939,499 (GRCm39) |
S27L |
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,516,547 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,017,613 (GRCm39) |
Y450C |
probably damaging |
Het |
| Ncl |
A |
G |
1: 86,284,091 (GRCm39) |
|
probably null |
Het |
| Or8k23 |
A |
T |
2: 86,186,477 (GRCm39) |
V83E |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,576,394 (GRCm39) |
S99T |
probably benign |
Het |
| Rb1cc1 |
G |
A |
1: 6,319,763 (GRCm39) |
A1061T |
probably damaging |
Het |
| Rhbdd1 |
T |
C |
1: 82,318,362 (GRCm39) |
Y82H |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,376,327 (GRCm39) |
K135R |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,627,101 (GRCm39) |
I950F |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,989,920 (GRCm39) |
V424A |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,951,892 (GRCm39) |
Y936N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,569,280 (GRCm39) |
D25458E |
probably damaging |
Het |
| Zfp629 |
C |
T |
7: 127,211,896 (GRCm39) |
V6M |
probably damaging |
Het |
|
| Other mutations in Slc5a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02737:Slc5a6
|
APN |
5 |
31,194,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-04-17 |
Incidental Mutation