Incidental Mutation 'IGL02489:Slc5a3'
| ID |
295542 |
| 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 # |
IGL02489
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
91855210-91884361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91874593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 217
(Y217N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000113975
AA Change: Y217N
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: Y217N
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,780,847 (GRCm39) |
|
probably benign |
Het |
| Aldh6a1 |
T |
C |
12: 84,480,746 (GRCm39) |
T430A |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,810,298 (GRCm39) |
D426G |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,639,540 (GRCm39) |
S280P |
possibly damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,535 (GRCm39) |
L416P |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,803,594 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
T |
C |
1: 45,431,971 (GRCm39) |
|
probably null |
Het |
| Ctsa |
A |
G |
2: 164,680,565 (GRCm39) |
Y402C |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,481 (GRCm39) |
V223A |
possibly damaging |
Het |
| Dnajb3 |
G |
T |
1: 88,133,032 (GRCm39) |
N123K |
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,684,931 (GRCm39) |
N469K |
probably damaging |
Het |
| Fmo3 |
G |
T |
1: 162,781,856 (GRCm39) |
T499K |
possibly damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,645 (GRCm39) |
C109Y |
probably benign |
Het |
| Lrrc27 |
G |
T |
7: 138,805,977 (GRCm39) |
R214L |
probably benign |
Het |
| Mc5r |
T |
A |
18: 68,472,597 (GRCm39) |
C319S |
probably damaging |
Het |
| Nwd2 |
A |
C |
5: 63,962,570 (GRCm39) |
Y718S |
probably damaging |
Het |
| Or8h7 |
T |
G |
2: 86,721,339 (GRCm39) |
Y60S |
probably damaging |
Het |
| Ppa1 |
T |
A |
10: 61,501,223 (GRCm39) |
D163E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,259,468 (GRCm39) |
G303W |
probably damaging |
Het |
| Rnf182 |
T |
C |
13: 43,821,779 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,045,074 (GRCm39) |
F659S |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,596,778 (GRCm39) |
E1008* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,564,860 (GRCm39) |
M849T |
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,878,071 (GRCm39) |
I442N |
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 |
|
IGL01566:Slc5a3
|
APN |
16 |
91,874,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01615:Slc5a3
|
APN |
16 |
91,876,000 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation