Incidental Mutation 'IGL02457:Slc5a6'
ID |
294440 |
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 # |
IGL02457
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31198002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 291
(L291P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000200816]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
AlphaFold |
Q5U4D8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080431
AA Change: L291P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000079291 Gene: ENSMUSG00000006641 AA Change: L291P
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 damaging
Transcript: ENSMUST00000114668
AA Change: L291P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110316 Gene: ENSMUSG00000006641 AA Change: L291P
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 damaging
Transcript: ENSMUST00000202520
AA Change: L291P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143938 Gene: ENSMUSG00000006641 AA Change: L291P
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 damaging
Transcript: ENSMUST00000202556
AA Change: L291P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143993 Gene: ENSMUSG00000006641 AA Change: L291P
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
A |
G |
2: 181,136,127 (GRCm39) |
D343G |
probably benign |
Het |
Acot10 |
T |
C |
15: 20,666,229 (GRCm39) |
S171G |
possibly damaging |
Het |
Actr3b |
T |
C |
5: 26,054,160 (GRCm39) |
|
probably null |
Het |
Adamts17 |
T |
C |
7: 66,677,562 (GRCm39) |
M492T |
probably damaging |
Het |
Akap4 |
A |
C |
X: 6,943,707 (GRCm39) |
N670T |
probably benign |
Het |
Atrip |
A |
G |
9: 108,894,299 (GRCm39) |
S55P |
possibly damaging |
Het |
Bend3 |
A |
T |
10: 43,385,946 (GRCm39) |
E113V |
probably damaging |
Het |
Ccdc158 |
A |
C |
5: 92,797,907 (GRCm39) |
I411S |
probably damaging |
Het |
Cfap97 |
G |
T |
8: 46,623,315 (GRCm39) |
C235F |
possibly damaging |
Het |
Chil4 |
T |
C |
3: 106,121,715 (GRCm39) |
N45D |
probably benign |
Het |
Cripto |
C |
T |
9: 110,771,691 (GRCm39) |
C32Y |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
Defb38 |
T |
C |
8: 19,076,552 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
Ecsit |
A |
G |
9: 21,989,500 (GRCm39) |
S14P |
probably damaging |
Het |
Eif3l |
T |
C |
15: 78,962,296 (GRCm39) |
F106L |
probably benign |
Het |
Erich5 |
G |
T |
15: 34,470,999 (GRCm39) |
G76V |
probably damaging |
Het |
Evpl |
A |
G |
11: 116,120,939 (GRCm39) |
L432P |
possibly damaging |
Het |
Fbxw10 |
T |
C |
11: 62,765,808 (GRCm39) |
F698L |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,428,470 (GRCm39) |
S2866T |
probably damaging |
Het |
Fuca1 |
G |
A |
4: 135,662,073 (GRCm39) |
V334I |
probably benign |
Het |
Hprt1 |
T |
A |
X: 52,091,010 (GRCm39) |
H60Q |
probably benign |
Het |
Kirrel2 |
T |
C |
7: 30,152,165 (GRCm39) |
N481S |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lilrb4b |
T |
A |
10: 51,357,334 (GRCm39) |
Y57N |
probably benign |
Het |
Lix1l |
A |
G |
3: 96,521,792 (GRCm39) |
Y126C |
probably damaging |
Het |
Lox |
T |
C |
18: 52,654,388 (GRCm39) |
D347G |
probably damaging |
Het |
Mak16 |
C |
T |
8: 31,654,753 (GRCm39) |
R147Q |
possibly damaging |
Het |
Ndst2 |
G |
A |
14: 20,779,622 (GRCm39) |
A206V |
possibly damaging |
Het |
Or1ak2 |
A |
T |
2: 36,827,760 (GRCm39) |
I210F |
probably damaging |
Het |
Or2q1 |
T |
A |
6: 42,795,176 (GRCm39) |
I257N |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,627,771 (GRCm39) |
M225V |
probably benign |
Het |
Pofut1 |
C |
T |
2: 153,090,516 (GRCm39) |
Q137* |
probably null |
Het |
Polr2a |
T |
C |
11: 69,634,076 (GRCm39) |
|
probably benign |
Het |
Prdm5 |
T |
A |
6: 65,858,100 (GRCm39) |
L388Q |
probably damaging |
Het |
Rad51c |
A |
G |
11: 87,271,681 (GRCm39) |
S344P |
possibly damaging |
Het |
Scart1 |
G |
A |
7: 139,800,308 (GRCm39) |
G30S |
probably benign |
Het |
Sdk1 |
C |
T |
5: 141,938,771 (GRCm39) |
P398L |
probably damaging |
Het |
Sec63 |
G |
A |
10: 42,677,729 (GRCm39) |
|
probably benign |
Het |
Sgo1 |
A |
T |
17: 53,983,989 (GRCm39) |
L463Q |
probably damaging |
Het |
Smarcb1 |
T |
C |
10: 75,757,205 (GRCm39) |
T9A |
probably benign |
Het |
Sp3 |
A |
G |
2: 72,801,813 (GRCm39) |
W67R |
probably damaging |
Het |
Ssxb9 |
A |
C |
X: 21,041,234 (GRCm39) |
S23A |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,292,167 (GRCm39) |
L1367S |
probably damaging |
Het |
Tbc1d23 |
T |
A |
16: 56,990,754 (GRCm39) |
I690F |
probably damaging |
Het |
Tmed5 |
A |
T |
5: 108,272,416 (GRCm39) |
S227R |
probably benign |
Het |
Tnrc6c |
T |
A |
11: 117,613,803 (GRCm39) |
S814T |
probably benign |
Het |
Trbv2 |
C |
T |
6: 41,024,905 (GRCm39) |
T107I |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,803,155 (GRCm39) |
V866A |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,804,762 (GRCm39) |
K905* |
probably null |
Het |
Ttn |
A |
G |
2: 76,539,654 (GRCm39) |
V34444A |
probably benign |
Het |
Vmn1r86 |
C |
T |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
Vmn2r17 |
A |
C |
5: 109,601,012 (GRCm39) |
D770A |
probably damaging |
Het |
Wnk4 |
T |
C |
11: 101,160,389 (GRCm39) |
|
probably benign |
Het |
Xaf1 |
T |
C |
11: 72,194,257 (GRCm39) |
M46T |
possibly 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 |
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 |
2015-04-16 |