Incidental Mutation 'IGL03277:Slc5a6'
ID |
415452 |
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 # |
IGL03277
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31195372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 449
(C449R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
AlphaFold |
Q5U4D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080431
AA Change: C449R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079291 Gene: ENSMUSG00000006641 AA Change: C449R
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 |
possibly damaging
Transcript: ENSMUST00000114668
AA Change: C449R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110316 Gene: ENSMUSG00000006641 AA Change: C449R
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 |
possibly damaging
Transcript: ENSMUST00000202520
AA Change: C449R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143938 Gene: ENSMUSG00000006641 AA Change: C449R
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 |
possibly damaging
Transcript: ENSMUST00000202556
AA Change: C449R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143993 Gene: ENSMUSG00000006641 AA Change: C449R
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amt |
A |
G |
9: 108,178,418 (GRCm39) |
T342A |
probably benign |
Het |
Atosa |
G |
A |
9: 74,916,514 (GRCm39) |
R371Q |
probably damaging |
Het |
B3glct |
T |
C |
5: 149,650,299 (GRCm39) |
L134P |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,382,083 (GRCm39) |
M485K |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,824,981 (GRCm39) |
N1226S |
probably null |
Het |
Cpne2 |
T |
C |
8: 95,275,000 (GRCm39) |
Y3H |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,311,504 (GRCm39) |
V1739A |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,669,481 (GRCm39) |
T543S |
probably benign |
Het |
Dock11 |
T |
G |
X: 35,277,603 (GRCm39) |
V1000G |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,735 (GRCm39) |
N60Y |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,843,849 (GRCm39) |
M499T |
possibly damaging |
Het |
Elmod1 |
G |
A |
9: 53,833,272 (GRCm39) |
L178F |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,148,940 (GRCm39) |
S101P |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,424,642 (GRCm39) |
V684A |
possibly damaging |
Het |
Mtx2 |
A |
G |
2: 74,698,748 (GRCm39) |
T124A |
probably damaging |
Het |
Nat3 |
T |
A |
8: 68,000,341 (GRCm39) |
H73Q |
probably benign |
Het |
Ndst2 |
A |
G |
14: 20,780,234 (GRCm39) |
L2P |
possibly damaging |
Het |
Nipsnap3a |
G |
T |
4: 52,997,219 (GRCm39) |
A162S |
probably benign |
Het |
Or2a57 |
T |
G |
6: 43,212,876 (GRCm39) |
C111W |
probably damaging |
Het |
Or5m5 |
T |
C |
2: 85,814,517 (GRCm39) |
I111T |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,714,673 (GRCm39) |
D183G |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,887 (GRCm39) |
E454G |
probably benign |
Het |
Prom1 |
G |
A |
5: 44,190,313 (GRCm39) |
Q364* |
probably null |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sema5b |
A |
G |
16: 35,471,682 (GRCm39) |
D425G |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,066,560 (GRCm39) |
C360S |
probably benign |
Het |
Slc38a7 |
T |
A |
8: 96,575,104 (GRCm39) |
I59F |
probably damaging |
Het |
Slc9b1 |
T |
C |
3: 135,096,269 (GRCm39) |
Y357H |
possibly damaging |
Het |
Snx17 |
A |
T |
5: 31,353,084 (GRCm39) |
|
probably benign |
Het |
Stk32b |
A |
C |
5: 37,786,320 (GRCm39) |
M48R |
probably damaging |
Het |
Tspan9 |
A |
G |
6: 127,944,038 (GRCm39) |
|
probably null |
Het |
Tst |
A |
T |
15: 78,289,521 (GRCm39) |
N171K |
probably damaging |
Het |
Vmn1r180 |
T |
A |
7: 23,652,710 (GRCm39) |
I291N |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,477,251 (GRCm39) |
D380V |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,790,861 (GRCm39) |
T2189A |
probably benign |
Het |
Zbtb20 |
A |
G |
16: 43,438,800 (GRCm39) |
N640S |
possibly damaging |
Het |
Zfp142 |
A |
G |
1: 74,610,193 (GRCm39) |
S1098P |
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 |
IGL02737:Slc5a6
|
APN |
5 |
31,194,511 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2016-08-02 |