Incidental Mutation 'IGL02691:Slc5a6'
ID |
303743 |
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 # |
IGL02691
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31199518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 15
(V15I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000200816]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
AlphaFold |
Q5U4D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080431
AA Change: V158I
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079291 Gene: ENSMUSG00000006641 AA Change: V158I
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: V158I
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110316 Gene: ENSMUSG00000006641 AA Change: V158I
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 |
possibly damaging
Transcript: ENSMUST00000202520
AA Change: V158I
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143938 Gene: ENSMUSG00000006641 AA Change: V158I
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: V158I
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143993 Gene: ENSMUSG00000006641 AA Change: V158I
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: ENSMUST00000202984
AA Change: V15I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144349 Gene: ENSMUSG00000006641 AA Change: V15I
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,655,457 (GRCm39) |
S40P |
probably benign |
Het |
Actl9 |
G |
T |
17: 33,652,092 (GRCm39) |
V51L |
probably damaging |
Het |
Adcy6 |
A |
T |
15: 98,502,185 (GRCm39) |
F143Y |
probably damaging |
Het |
Agps |
A |
T |
2: 75,722,204 (GRCm39) |
I465F |
probably benign |
Het |
Armc3 |
T |
A |
2: 19,240,295 (GRCm39) |
F17L |
probably damaging |
Het |
Arsk |
A |
C |
13: 76,223,069 (GRCm39) |
M176R |
probably damaging |
Het |
Asz1 |
G |
A |
6: 18,076,556 (GRCm39) |
T212I |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,931,982 (GRCm39) |
I102T |
probably damaging |
Het |
Bpifb6 |
T |
A |
2: 153,744,565 (GRCm39) |
L2Q |
unknown |
Het |
Cad |
A |
G |
5: 31,212,638 (GRCm39) |
Y45C |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,414,342 (GRCm39) |
D451G |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,789,547 (GRCm39) |
I834T |
probably benign |
Het |
Cyp2j12 |
C |
T |
4: 96,021,231 (GRCm39) |
|
probably null |
Het |
Dhx8 |
G |
A |
11: 101,642,830 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,800,767 (GRCm39) |
|
probably benign |
Het |
Ell2 |
T |
A |
13: 75,904,605 (GRCm39) |
D99E |
probably damaging |
Het |
Enpp1 |
G |
T |
10: 24,587,790 (GRCm39) |
P34T |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,892,564 (GRCm39) |
V2888E |
possibly damaging |
Het |
Gmfg |
A |
G |
7: 28,144,295 (GRCm39) |
Y40C |
probably damaging |
Het |
Gnal |
T |
C |
18: 67,355,746 (GRCm39) |
I369T |
probably damaging |
Het |
Gzmn |
T |
C |
14: 56,404,370 (GRCm39) |
T156A |
probably benign |
Het |
H2-DMb2 |
A |
T |
17: 34,366,832 (GRCm39) |
H88L |
probably benign |
Het |
Ighv7-3 |
T |
C |
12: 114,117,016 (GRCm39) |
T49A |
probably benign |
Het |
Jakmip3 |
C |
T |
7: 138,628,573 (GRCm39) |
Q450* |
probably null |
Het |
Klhl20 |
A |
T |
1: 160,934,444 (GRCm39) |
|
probably benign |
Het |
Klk6 |
A |
G |
7: 43,477,924 (GRCm39) |
T99A |
probably benign |
Het |
Lhx3 |
A |
G |
2: 26,093,097 (GRCm39) |
C118R |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,803,655 (GRCm39) |
|
probably benign |
Het |
Naa15 |
A |
G |
3: 51,358,747 (GRCm39) |
E294G |
probably damaging |
Het |
Nfia |
C |
T |
4: 97,970,045 (GRCm39) |
Q373* |
probably null |
Het |
Notch2 |
C |
A |
3: 98,042,923 (GRCm39) |
Y1429* |
probably null |
Het |
Oc90 |
A |
G |
15: 65,754,410 (GRCm39) |
S252P |
probably damaging |
Het |
Or56a3b |
A |
G |
7: 104,771,338 (GRCm39) |
I225V |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,182 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde3b |
T |
A |
7: 114,107,320 (GRCm39) |
|
probably benign |
Het |
Pdss1 |
G |
A |
2: 22,805,253 (GRCm39) |
V211I |
probably benign |
Het |
Phactr1 |
G |
T |
13: 43,231,213 (GRCm39) |
M226I |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,622,236 (GRCm39) |
S259P |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,713 (GRCm39) |
N269S |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,228,688 (GRCm39) |
V229A |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,444 (GRCm39) |
K997R |
probably benign |
Het |
Ppm1m |
A |
T |
9: 106,072,568 (GRCm39) |
V449E |
probably damaging |
Het |
Ppp1r36dn |
T |
C |
12: 76,498,073 (GRCm39) |
|
noncoding transcript |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
A |
G |
13: 55,526,836 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scamp5 |
G |
T |
9: 57,358,660 (GRCm39) |
R39S |
probably damaging |
Het |
Snx25 |
A |
T |
8: 46,558,302 (GRCm39) |
V235E |
possibly damaging |
Het |
Tdrd1 |
G |
T |
19: 56,832,284 (GRCm39) |
E400D |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,539,544 (GRCm39) |
R1593G |
probably benign |
Het |
Trdv2-2 |
T |
C |
14: 54,199,039 (GRCm39) |
F110L |
possibly damaging |
Het |
Ush2a |
A |
C |
1: 188,466,949 (GRCm39) |
Y2871S |
probably damaging |
Het |
Vars2 |
A |
C |
17: 35,971,140 (GRCm39) |
L592R |
probably damaging |
Het |
Vipr2 |
T |
A |
12: 116,099,849 (GRCm39) |
C239S |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,428 (GRCm39) |
D68V |
probably damaging |
Het |
Vmn1r7 |
A |
T |
6: 57,001,373 (GRCm39) |
S296T |
probably benign |
Het |
Vmn2r95 |
T |
C |
17: 18,672,120 (GRCm39) |
I619T |
probably benign |
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 |
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 |