Incidental Mutation 'R6621:Slc5a6'
| ID |
524433 |
| 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 |
044744-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31198122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 251
(V251A)
|
| 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: V251A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: V251A
| 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: V251A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: V251A
| 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: V251A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: V251A
| 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: V251A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: V251A
| 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 |
|
| Meta Mutation Damage Score |
0.1508 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,162 (GRCm39) |
T30M |
possibly damaging |
Het |
| Abcb8 |
T |
C |
5: 24,599,508 (GRCm39) |
F8L |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,219,729 (GRCm39) |
C44F |
probably damaging |
Het |
| Ankrd34a |
A |
G |
3: 96,505,531 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Chat |
C |
T |
14: 32,140,970 (GRCm39) |
A476T |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,487,719 (GRCm39) |
D100G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,472 (GRCm39) |
F615L |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,182,484 (GRCm39) |
D599V |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,941,813 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,855 (GRCm39) |
L460P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,820,158 (GRCm39) |
V5297G |
possibly damaging |
Het |
| Gm28363 |
A |
G |
1: 117,655,087 (GRCm39) |
D102G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,742,718 (GRCm39) |
V1377A |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,252,059 (GRCm39) |
F264I |
probably benign |
Het |
| Kif3a |
A |
G |
11: 53,469,957 (GRCm39) |
I152M |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,414,366 (GRCm39) |
S323G |
probably benign |
Het |
| Manea |
T |
C |
4: 26,340,363 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,439,409 (GRCm39) |
E588G |
probably damaging |
Het |
| Mllt3 |
T |
G |
4: 87,759,034 (GRCm39) |
K338T |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,469,610 (GRCm39) |
T1324A |
probably damaging |
Het |
| Nudt8 |
T |
A |
19: 4,051,320 (GRCm39) |
Y64N |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,368 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,598 (GRCm39) |
I31V |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,085 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,287 (GRCm39) |
W49R |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,541,899 (GRCm39) |
V117A |
probably benign |
Het |
| Or8c9 |
A |
T |
9: 38,241,758 (GRCm39) |
I289F |
probably damaging |
Het |
| Osm |
T |
A |
11: 4,189,541 (GRCm39) |
D108E |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,878 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,017,954 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,807,468 (GRCm39) |
D245G |
probably damaging |
Het |
| Slc10a7 |
T |
C |
8: 79,242,263 (GRCm39) |
I50T |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,966,242 (GRCm39) |
T320S |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,819 (GRCm39) |
E28G |
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 |
|
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 |
|
|
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'- TCCGGAAAGTCCCCAGTAAG -3'
(R):5'- GTTGGGAAAATGGAATCTTCTCTCC -3'
Sequencing Primer
(F):5'- TGAGAAGCCTGAACCCCGTC -3'
(R):5'- CAACTTCCTGAGCCATCTCGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation