Incidental Mutation 'R6615:Slc5a6'
| ID |
523919 |
| 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 |
044738-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6615 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31194174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 628
(V628I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
| AlphaFold |
Q5U4D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080431
AA Change: V628I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: V628I
| 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
AA Change: V628I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: V628I
| 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 |
probably benign
Transcript: ENSMUST00000202520
AA Change: V628I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: V628I
| 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
AA Change: V628I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: V628I
| 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: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
| Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,455,505 (GRCm39) |
T560A |
possibly damaging |
Het |
| Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
| Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,087,882 (GRCm39) |
|
probably null |
Het |
| Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
| Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
| Marchf8 |
A |
G |
6: 116,382,624 (GRCm39) |
E147G |
probably damaging |
Het |
| Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
| Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
| Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
| Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
| Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
| Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
| Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
| Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
| Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
| Sugp2 |
A |
G |
8: 70,695,420 (GRCm39) |
Q131R |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
| Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
| Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
| Xkr5 |
T |
C |
8: 18,983,569 (GRCm39) |
I658V |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
probably null |
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 |
|
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 |
|
|
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'- AACTGTCTCGCCCTTGCATG -3'
(R):5'- TGAAGTGGACTGTCTCACCTTTG -3'
Sequencing Primer
(F):5'- CGCTTCCATGGAGGTGATAC -3'
(R):5'- GACTGTCTCACCTTTGCTCCAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation