Incidental Mutation 'R0693:Msl3l2'
| ID |
63406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msl3l2
|
| Ensembl Gene |
ENSMUSG00000047669 |
| Gene Name |
MSL3 like 2 |
| Synonyms |
1700060H10Rik |
| MMRRC Submission |
038878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0693 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
55983013-55992976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55991947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 224
(R224Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063138]
[ENSMUST00000099739]
|
| AlphaFold |
G3X992 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063138
AA Change: R224Q
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051220
Gene: ENSMUSG00000047669
AA Change: R224Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRG
|
30 |
352 |
1.2e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099739
|
| SMART Domains |
Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BROMI
|
12 |
1293 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219385
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
A |
T |
9: 42,929,697 (GRCm39) |
N199K |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,825,551 (GRCm39) |
L87H |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,919 (GRCm39) |
F16L |
probably damaging |
Het |
| Gbgt1 |
G |
A |
2: 28,394,842 (GRCm39) |
G160D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,058,188 (GRCm39) |
D477G |
probably benign |
Het |
| Gp1ba |
T |
C |
11: 70,531,284 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,723,943 (GRCm39) |
T492S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,027 (GRCm39) |
T78A |
possibly damaging |
Het |
| Klhl9 |
T |
G |
4: 88,638,527 (GRCm39) |
K571N |
probably benign |
Het |
| Nfe2l3 |
A |
G |
6: 51,410,034 (GRCm39) |
T50A |
possibly damaging |
Het |
| Or7g32 |
G |
A |
9: 19,389,268 (GRCm39) |
Q90* |
probably null |
Het |
| Or8b40 |
A |
G |
9: 38,027,325 (GRCm39) |
T78A |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,572,378 (GRCm39) |
Q426L |
probably benign |
Het |
| Rnf215 |
G |
A |
11: 4,090,401 (GRCm39) |
|
probably null |
Het |
| Sp100 |
T |
A |
1: 85,594,726 (GRCm39) |
|
probably null |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,570 (GRCm39) |
T263M |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,915,636 (GRCm39) |
T1966M |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,667,609 (GRCm39) |
Y268C |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,402,637 (GRCm39) |
T2477A |
probably damaging |
Het |
|
| Other mutations in Msl3l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Msl3l2
|
APN |
10 |
55,992,021 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01359:Msl3l2
|
APN |
10 |
55,992,340 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02379:Msl3l2
|
APN |
10 |
55,992,017 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0364:Msl3l2
|
UTSW |
10 |
55,991,947 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0478:Msl3l2
|
UTSW |
10 |
55,991,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1305:Msl3l2
|
UTSW |
10 |
55,991,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Msl3l2
|
UTSW |
10 |
55,992,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Msl3l2
|
UTSW |
10 |
55,991,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2377:Msl3l2
|
UTSW |
10 |
55,991,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Msl3l2
|
UTSW |
10 |
55,991,538 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4596:Msl3l2
|
UTSW |
10 |
55,991,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4834:Msl3l2
|
UTSW |
10 |
55,991,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Msl3l2
|
UTSW |
10 |
55,991,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Msl3l2
|
UTSW |
10 |
55,991,461 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACGAAATGGTCACCTCCTCCAC -3'
(R):5'- GGAAGAAGTCAGCCTGGTATTCTGC -3'
Sequencing Primer
(F):5'- TCTTCCCCACTGAGGAGC -3'
(R):5'- CAGCCTGGTATTCTGCTAAGAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation