Incidental Mutation 'R2882:Csl'
| ID |
260352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csl
|
| Ensembl Gene |
ENSMUSG00000046934 |
| Gene Name |
citrate synthase like |
| Synonyms |
1700007H16Rik |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.518)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
99593567-99595346 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99594787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 93
(F93L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056085]
|
| AlphaFold |
Q80X68 |
| PDB Structure |
Substrate induced remodeling of the active site regulates HtrA1 activity [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056085
AA Change: F93L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: F93L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Citrate_synt
|
71 |
449 |
6.2e-119 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222959
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
Het |
|
| Other mutations in Csl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02523:Csl
|
APN |
10 |
99,594,675 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1519:Csl
|
UTSW |
10 |
99,593,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2284:Csl
|
UTSW |
10 |
99,594,321 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4128:Csl
|
UTSW |
10 |
99,594,462 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4424:Csl
|
UTSW |
10 |
99,594,453 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4819:Csl
|
UTSW |
10 |
99,593,944 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4876:Csl
|
UTSW |
10 |
99,594,402 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5700:Csl
|
UTSW |
10 |
99,594,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6463:Csl
|
UTSW |
10 |
99,594,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8064:Csl
|
UTSW |
10 |
99,594,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Csl
|
UTSW |
10 |
99,594,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Csl
|
UTSW |
10 |
99,594,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Csl
|
UTSW |
10 |
99,594,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Csl
|
UTSW |
10 |
99,594,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9134:Csl
|
UTSW |
10 |
99,594,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9395:Csl
|
UTSW |
10 |
99,595,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAATTGTCCAGCATGGTGAC -3'
(R):5'- CCAGTGCTTCTTCCACGAAC -3'
Sequencing Primer
(F):5'- TCCAGCATGGTGACGACATG -3'
(R):5'- CTTCTTCCACGAACTTGAAAGACGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation