Incidental Mutation 'R5536:Slc5a6'
ID |
434819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc5a6
|
Ensembl Gene |
ENSMUSG00000006641 |
Gene Name |
solute carrier family 5 (sodium-dependent vitamin transporter), member 6 |
Synonyms |
|
MMRRC Submission |
043094-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5536 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31200446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 80
(S80P)
|
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: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079291 Gene: ENSMUSG00000006641 AA Change: S80P
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: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110316 Gene: ENSMUSG00000006641 AA Change: S80P
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: ENSMUST00000137223
AA Change: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116357 Gene: ENSMUSG00000006641 AA Change: S80P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200816
AA Change: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144665 Gene: ENSMUSG00000006641 AA Change: S80P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202520
AA Change: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143938 Gene: ENSMUSG00000006641 AA Change: S80P
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: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143993 Gene: ENSMUSG00000006641 AA Change: S80P
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
Aadac |
T |
G |
3: 59,946,984 (GRCm39) |
N227K |
probably benign |
Het |
Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
Evc |
A |
G |
5: 37,483,927 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
Nol10 |
C |
A |
12: 17,466,138 (GRCm39) |
S511* |
probably null |
Het |
Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
Plekha1 |
G |
T |
7: 130,511,331 (GRCm39) |
R305I |
probably damaging |
Het |
Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
Vmn2r54 |
A |
C |
7: 12,366,343 (GRCm39) |
V197G |
probably benign |
Het |
Zbtb40 |
G |
T |
4: 136,714,642 (GRCm39) |
P1049Q |
probably damaging |
Het |
Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGTCATCCTGTTCTGCTCAC -3'
(R):5'- CAAAGCATCAGCACCGTGAG -3'
Sequencing Primer
(F):5'- CCTCATAGGCGCTGGTCAGATG -3'
(R):5'- CCAGCGGGGCTATTTCTAC -3'
|
Posted On |
2016-10-24 |