Incidental Mutation 'IGL01615:Slc5a3'
ID |
92367 |
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 # |
IGL01615
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
91855210-91884361 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 91876000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 686
(Q686*)
|
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 null
Transcript: ENSMUST00000113975
AA Change: Q686*
|
SMART Domains |
Protein: ENSMUSP00000109608 Gene: ENSMUSG00000089774 AA Change: Q686*
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,171,692 (GRCm39) |
T906A |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
Avpr1b |
T |
G |
1: 131,527,885 (GRCm39) |
V136G |
probably damaging |
Het |
C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
Cnnm1 |
A |
T |
19: 43,460,375 (GRCm39) |
S706C |
probably benign |
Het |
Cr1l |
T |
C |
1: 194,812,189 (GRCm39) |
I45V |
possibly damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
Mvk |
A |
G |
5: 114,584,353 (GRCm39) |
D71G |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,201 (GRCm39) |
R227S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
possibly damaging |
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 |
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 |