Incidental Mutation 'R8433:Slc5a6'
| ID |
653852 |
| 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 |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31194806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 530
(A530V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
| AlphaFold |
Q5U4D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080431
AA Change: A530V
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: A530V
| 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: A530V
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: A530V
| 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: ENSMUST00000202520
AA Change: A530V
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: A530V
| 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: A530V
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: A530V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly 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 |
|
|
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 |
|
|
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'- CTCTGATGTCAGCAGGGAAGAC -3'
(R):5'- TCTCCTTGGGTAGTAGCTCAG -3'
Sequencing Primer
(F):5'- AGACTGGGGGCTACTGACAC -3'
(R):5'- CCTGACTAAGGGGTGGGCTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation