Incidental Mutation 'R1022:Slc5a3'
| ID |
98808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a3
|
| Ensembl Gene |
ENSMUSG00000089774 |
| Gene Name |
solute carrier family 5 (inositol transporters), member 3 |
| Synonyms |
Smit1 |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
91855210-91884361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91874383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 147
(A147T)
|
| 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: A147T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: A147T
| 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 |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCATGGGAATTCAATGCCTTAC -3'
(R):5'- GCATTCGCCTTAGGATGGACCATAC -3'
Sequencing Primer
(F):5'- GGGAATTCAATGCCTTACTGCTC -3'
(R):5'- GGACCATACAAGCATTTGTGTTG -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation