Incidental Mutation 'IGL01566:Slc5a3'
| ID |
90988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc5a3
|
| Ensembl Gene |
ENSMUSG00000089774 |
| Gene Name |
solute carrier family 5 (inositol transporters), member 3 |
| Synonyms |
Smit1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
91855210-91884361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91874465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047429]
[ENSMUST00000113975]
[ENSMUST00000131098]
[ENSMUST00000232677]
|
| AlphaFold |
Q9JKZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047429
|
| SMART Domains |
Protein: ENSMUSP00000037631
Gene: ENSMUSG00000039680
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S6
|
3 |
95 |
7.2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113975
AA Change: V174A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: V174A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
39 |
477 |
1.3e-163 |
PFAM |
|
transmembrane domain
|
511 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
transmembrane domain
|
696 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131098
|
| SMART Domains |
Protein: ENSMUSP00000139098
Gene: ENSMUSG00000089774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
1 |
142 |
3.4e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232677
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,447,285 (GRCm39) |
V149A |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,714,227 (GRCm39) |
|
probably null |
Het |
| Dhdds |
T |
C |
4: 133,718,648 (GRCm39) |
I162V |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,469,840 (GRCm39) |
|
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,034,714 (GRCm39) |
D58V |
unknown |
Het |
| Gcn1 |
A |
G |
5: 115,749,117 (GRCm39) |
N1883S |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,634,661 (GRCm39) |
L235P |
probably damaging |
Het |
| Jkampl |
G |
A |
6: 73,445,673 (GRCm39) |
T292I |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Mme |
T |
C |
3: 63,269,350 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
G |
T |
2: 38,617,901 (GRCm39) |
Q419K |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,603,422 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
C |
A |
8: 34,101,791 (GRCm39) |
R110S |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,965,551 (GRCm39) |
Y322C |
probably damaging |
Het |
| St8sia4 |
G |
T |
1: 95,581,482 (GRCm39) |
R87S |
probably benign |
Het |
| Tfdp2 |
A |
G |
9: 96,177,083 (GRCm39) |
E5G |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,442,881 (GRCm39) |
I267T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,365 (GRCm39) |
L957P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,445 (GRCm39) |
|
probably benign |
Het |
| Ubqln1 |
A |
T |
13: 58,327,481 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,044,454 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc5a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Slc5a3
|
APN |
16 |
91,874,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01100:Slc5a3
|
APN |
16 |
91,876,110 (GRCm39) |
intron |
probably benign |
|
|
IGL01374:Slc5a3
|
APN |
16 |
91,874,006 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01615:Slc5a3
|
APN |
16 |
91,876,000 (GRCm39) |
nonsense |
probably null |
|
|
IGL02489:Slc5a3
|
APN |
16 |
91,874,593 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03329:Slc5a3
|
APN |
16 |
91,874,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Slc5a3
|
UTSW |
16 |
91,874,702 (GRCm39) |
missense |
probably benign |
|
|
R0054:Slc5a3
|
UTSW |
16 |
91,874,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Slc5a3
|
UTSW |
16 |
91,874,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Slc5a3
|
UTSW |
16 |
91,874,581 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1022:Slc5a3
|
UTSW |
16 |
91,874,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Slc5a3
|
UTSW |
16 |
91,874,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Slc5a3
|
UTSW |
16 |
91,874,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Slc5a3
|
UTSW |
16 |
91,874,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1777:Slc5a3
|
UTSW |
16 |
91,874,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1955:Slc5a3
|
UTSW |
16 |
91,874,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2068:Slc5a3
|
UTSW |
16 |
91,874,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Slc5a3
|
UTSW |
16 |
91,874,816 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4152:Slc5a3
|
UTSW |
16 |
91,874,696 (GRCm39) |
nonsense |
probably null |
|
|
R4651:Slc5a3
|
UTSW |
16 |
91,874,090 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4944:Slc5a3
|
UTSW |
16 |
91,875,571 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5008:Slc5a3
|
UTSW |
16 |
91,874,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6058:Slc5a3
|
UTSW |
16 |
91,875,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7459:Slc5a3
|
UTSW |
16 |
91,875,905 (GRCm39) |
missense |
probably benign |
|
|
R7544:Slc5a3
|
UTSW |
16 |
91,874,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7843:Slc5a3
|
UTSW |
16 |
91,875,907 (GRCm39) |
missense |
probably benign |
|
|
R9432:Slc5a3
|
UTSW |
16 |
91,874,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9501:Slc5a3
|
UTSW |
16 |
91,875,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation