Incidental Mutation 'R4152:Slc5a3'
| ID |
314969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a3
|
| Ensembl Gene |
ENSMUSG00000089774 |
| Gene Name |
solute carrier family 5 (inositol transporters), member 3 |
| Synonyms |
Smit1 |
| MMRRC Submission |
040996-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91855210-91884361 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 91874696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 251
(L251*)
|
| 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: L251*
|
| SMART Domains |
Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: L251*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,183,752 (GRCm39) |
M31R |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,190 (GRCm39) |
S1535R |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,127,765 (GRCm39) |
I137T |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,812,857 (GRCm39) |
S36G |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,267,227 (GRCm39) |
|
probably null |
Het |
| Crem |
G |
T |
18: 3,288,055 (GRCm39) |
N179K |
probably damaging |
Het |
| Fam78b |
T |
C |
1: 166,906,369 (GRCm39) |
M176T |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,322 (GRCm39) |
H2036Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,413 (GRCm39) |
|
probably null |
Het |
| Gm6483 |
T |
C |
8: 19,737,926 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,789,973 (GRCm39) |
F81S |
probably benign |
Het |
| Lpgat1 |
C |
A |
1: 191,451,600 (GRCm39) |
Y36* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,088,528 (GRCm39) |
D444G |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,680,210 (GRCm39) |
S145G |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,816 (GRCm39) |
Y132* |
probably null |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,823,514 (GRCm39) |
C92* |
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Phf3 |
C |
T |
1: 30,870,539 (GRCm39) |
V116I |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,534,985 (GRCm39) |
Y86H |
possibly damaging |
Het |
| Rab4b |
T |
C |
7: 26,875,551 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,449 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
G |
A |
10: 50,859,950 (GRCm39) |
C604Y |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,589,147 (GRCm39) |
N1234S |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Snx31 |
T |
C |
15: 36,525,785 (GRCm39) |
N305D |
probably benign |
Het |
| St14 |
T |
C |
9: 31,001,802 (GRCm39) |
I768V |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Tlr6 |
A |
C |
5: 65,110,555 (GRCm39) |
F784C |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,427 (GRCm39) |
V701A |
probably benign |
Het |
| Tspan15 |
A |
T |
10: 62,025,621 (GRCm39) |
M197K |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,730 (GRCm39) |
Q588L |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,800 (GRCm39) |
D503G |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
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 |
|
|
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 |
|
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'- TCATGATCATTGGGGCGCTC -3'
(R):5'- TCTCATCAGCAAACACTATCCTGG -3'
Sequencing Primer
(F):5'- CATTGGGGCGCTCACACTTATG -3'
(R):5'- CCTGGTACAACTATGATAAACATTGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation