Incidental Mutation 'IGL02414:Sdsl'
ID |
292367 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sdsl
|
Ensembl Gene |
ENSMUSG00000029596 |
Gene Name |
serine dehydratase-like |
Synonyms |
SDH1, SDS-RS1, 4432411H13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02414
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
120596251-120610875 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120600124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 91
(T91I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031594]
[ENSMUST00000052258]
[ENSMUST00000132916]
|
AlphaFold |
Q8R238 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031594
AA Change: T91I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031594 Gene: ENSMUSG00000029596 AA Change: T91I
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
11 |
310 |
8.7e-74 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052258
AA Change: T91I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058198 Gene: ENSMUSG00000029596 AA Change: T91I
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
11 |
310 |
7.5e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132916
AA Change: T91I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120868 Gene: ENSMUSG00000029596 AA Change: T91I
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
11 |
120 |
2.8e-30 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
C |
T |
2: 163,571,960 (GRCm39) |
D273N |
probably benign |
Het |
Btbd9 |
A |
C |
17: 30,439,533 (GRCm39) |
C551W |
possibly damaging |
Het |
Casp2 |
T |
A |
6: 42,257,380 (GRCm39) |
L443H |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,092,503 (GRCm39) |
Y703H |
possibly damaging |
Het |
Clta |
T |
C |
4: 44,030,274 (GRCm39) |
|
probably benign |
Het |
Cstdc2 |
T |
G |
2: 148,692,598 (GRCm39) |
K68T |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,919,387 (GRCm39) |
D1120G |
probably benign |
Het |
Ece2 |
A |
G |
16: 20,459,456 (GRCm39) |
D597G |
probably damaging |
Het |
Etfdh |
A |
G |
3: 79,511,403 (GRCm39) |
V526A |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,633,198 (GRCm39) |
D60E |
probably benign |
Het |
Gpr85 |
A |
T |
6: 13,836,909 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,308,385 (GRCm39) |
S208R |
probably damaging |
Het |
Kif1b |
A |
G |
4: 149,283,771 (GRCm39) |
I1252T |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,900,804 (GRCm39) |
V835A |
possibly damaging |
Het |
Or2d4 |
A |
T |
7: 106,543,965 (GRCm39) |
M81K |
probably benign |
Het |
Or5ac25 |
C |
T |
16: 59,182,077 (GRCm39) |
C168Y |
probably damaging |
Het |
Ppwd1 |
T |
G |
13: 104,359,645 (GRCm39) |
I119L |
probably benign |
Het |
Prex1 |
T |
C |
2: 166,451,748 (GRCm39) |
K410R |
probably damaging |
Het |
Prm2 |
C |
T |
16: 10,609,754 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,386,874 (GRCm39) |
T166A |
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,977,765 (GRCm39) |
V98A |
probably benign |
Het |
Tas2r136 |
A |
G |
6: 132,754,494 (GRCm39) |
M211T |
possibly damaging |
Het |
Trim43c |
A |
T |
9: 88,723,885 (GRCm39) |
|
probably null |
Het |
Ttc1 |
T |
C |
11: 43,630,664 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sdsl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01581:Sdsl
|
APN |
5 |
120,597,632 (GRCm39) |
missense |
possibly damaging |
0.83 |
G1Funyon:Sdsl
|
UTSW |
5 |
120,597,584 (GRCm39) |
missense |
probably benign |
0.01 |
R0487:Sdsl
|
UTSW |
5 |
120,597,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Sdsl
|
UTSW |
5 |
120,601,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R2015:Sdsl
|
UTSW |
5 |
120,601,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R2188:Sdsl
|
UTSW |
5 |
120,596,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2448:Sdsl
|
UTSW |
5 |
120,596,446 (GRCm39) |
missense |
probably benign |
0.02 |
R3833:Sdsl
|
UTSW |
5 |
120,601,183 (GRCm39) |
missense |
probably benign |
0.08 |
R4764:Sdsl
|
UTSW |
5 |
120,600,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4949:Sdsl
|
UTSW |
5 |
120,597,870 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6364:Sdsl
|
UTSW |
5 |
120,598,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R6836:Sdsl
|
UTSW |
5 |
120,600,167 (GRCm39) |
missense |
probably benign |
0.01 |
R7226:Sdsl
|
UTSW |
5 |
120,598,702 (GRCm39) |
missense |
probably benign |
0.01 |
R8093:Sdsl
|
UTSW |
5 |
120,598,017 (GRCm39) |
missense |
probably benign |
0.04 |
R8301:Sdsl
|
UTSW |
5 |
120,597,584 (GRCm39) |
missense |
probably benign |
0.01 |
R9351:Sdsl
|
UTSW |
5 |
120,601,159 (GRCm39) |
missense |
probably benign |
0.11 |
R9356:Sdsl
|
UTSW |
5 |
120,597,948 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Sdsl
|
UTSW |
5 |
120,596,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |