Incidental Mutation 'R4949:Sdsl'
| ID |
383660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdsl
|
| Ensembl Gene |
ENSMUSG00000029596 |
| Gene Name |
serine dehydratase-like |
| Synonyms |
SDH1, SDS-RS1, 4432411H13Rik |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120596251-120610875 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120597870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 208
(N208Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031594]
[ENSMUST00000052258]
[ENSMUST00000132916]
|
| AlphaFold |
Q8R238 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031594
AA Change: N208Y
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031594
Gene: ENSMUSG00000029596
AA Change: N208Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
11 |
310 |
8.7e-74 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052258
AA Change: N208Y
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058198
Gene: ENSMUSG00000029596
AA Change: N208Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
11 |
310 |
7.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132916
|
| SMART Domains |
Protein: ENSMUSP00000120868
Gene: ENSMUSG00000029596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
11 |
120 |
2.8e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
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 |
|
IGL02414:Sdsl
|
APN |
5 |
120,600,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACATGTCAGAGCCCCAC -3'
(R):5'- CCGGAAGTCCCATCATGTATCTC -3'
Sequencing Primer
(F):5'- TGCTGTCCCCAGGTCAC -3'
(R):5'- GAAGTCCCATCATGTATCTCCCTCAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation