Incidental Mutation 'R1177:Slc5a6'
| ID |
100046 |
| 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 |
039249-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1177 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 31196646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000200816]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
| AlphaFold |
Q5U4D8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006817
|
| SMART Domains |
Protein: ENSMUSP00000006817
Gene: ENSMUSG00000006641
| 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 null
Transcript: ENSMUST00000080431
|
| SMART Domains |
Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
| 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 null
Transcript: ENSMUST00000114665
|
| SMART Domains |
Protein: ENSMUSP00000110313
Gene: ENSMUSG00000006641
| 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 null
Transcript: ENSMUST00000114668
|
| SMART Domains |
Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
| 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 null
Transcript: ENSMUST00000202520
|
| SMART Domains |
Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
| 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 null
Transcript: ENSMUST00000202556
|
| SMART Domains |
Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
| 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: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
T |
3: 36,664,329 (GRCm39) |
|
probably null |
Het |
| Bivm |
G |
A |
1: 44,182,123 (GRCm39) |
V444I |
probably benign |
Het |
| Cers4 |
A |
G |
8: 4,566,931 (GRCm39) |
I78V |
probably null |
Het |
| Chgb |
A |
G |
2: 132,635,390 (GRCm39) |
Y444C |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,791,509 (GRCm39) |
V1161A |
unknown |
Het |
| Dpp6 |
A |
G |
5: 27,868,471 (GRCm39) |
D478G |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,902 (GRCm39) |
V274A |
probably damaging |
Het |
| Fkrp |
T |
C |
7: 16,544,452 (GRCm39) |
E470G |
probably damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,754,702 (GRCm39) |
I159T |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,577 (GRCm39) |
Q955L |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,232,968 (GRCm39) |
S1115P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,756,927 (GRCm39) |
F1048S |
probably damaging |
Het |
| Mthfd1l |
A |
C |
10: 3,935,661 (GRCm39) |
K212T |
possibly damaging |
Het |
| Myo5b |
G |
A |
18: 74,777,143 (GRCm39) |
R401H |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,572 (GRCm39) |
S531N |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,998,547 (GRCm39) |
V884A |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,740,091 (GRCm39) |
M161K |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,109,310 (GRCm39) |
T1618A |
probably benign |
Het |
| Or10d4 |
A |
G |
9: 39,580,937 (GRCm39) |
R195G |
probably benign |
Het |
| Or2b4 |
A |
T |
17: 38,116,843 (GRCm39) |
E269V |
probably benign |
Het |
| Or4c105 |
A |
G |
2: 88,647,704 (GRCm39) |
Y63C |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,582 (GRCm39) |
A115T |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,623 (GRCm39) |
R840G |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,879 (GRCm39) |
Q629L |
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,913 (GRCm39) |
T859S |
probably benign |
Het |
| Sv2c |
G |
T |
13: 96,126,271 (GRCm39) |
A327E |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tlr2 |
A |
G |
3: 83,746,041 (GRCm39) |
I14T |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,065,028 (GRCm39) |
V1688A |
possibly damaging |
Het |
| Zfhx4 |
ACCTCCTCCTCCTCCTCCTCC |
ACCTCCTCCTCCTCCTCC |
3: 5,465,891 (GRCm39) |
|
probably benign |
Het |
| Zfp94 |
T |
C |
7: 24,002,953 (GRCm39) |
Y163C |
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation