Incidental Mutation 'R1305:Msl3l2'
| ID |
157780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msl3l2
|
| Ensembl Gene |
ENSMUSG00000047669 |
| Gene Name |
MSL3 like 2 |
| Synonyms |
1700060H10Rik |
| MMRRC Submission |
039371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1305 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
55983013-55992976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55991631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 119
(C119R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063138]
[ENSMUST00000099739]
|
| AlphaFold |
G3X992 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063138
AA Change: C119R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051220
Gene: ENSMUSG00000047669
AA Change: C119R
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2 |
G |
A |
5: 121,887,247 (GRCm39) |
V306I |
probably damaging |
Het |
| Enc1 |
T |
C |
13: 97,383,208 (GRCm39) |
Y573H |
possibly damaging |
Het |
| Gm9869 |
T |
C |
9: 60,729,168 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,614 (GRCm39) |
T135A |
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,482,001 (GRCm39) |
T197M |
possibly damaging |
Het |
| Kcnj4 |
A |
T |
15: 79,369,020 (GRCm39) |
V320E |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,464,554 (GRCm39) |
I1648N |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,694,890 (GRCm39) |
M435L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,581,880 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,306 (GRCm39) |
F466L |
probably benign |
Het |
| Msln |
T |
C |
17: 25,972,001 (GRCm39) |
E72G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,818,930 (GRCm39) |
S475P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,881,077 (GRCm39) |
N18I |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,902,540 (GRCm39) |
W86L |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,646 (GRCm39) |
L212* |
probably null |
Het |
| Or7a37 |
T |
C |
10: 78,805,933 (GRCm39) |
I150T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,032,891 (GRCm39) |
S162T |
possibly damaging |
Het |
| Ppm1a |
C |
A |
12: 72,830,494 (GRCm39) |
D6E |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,800,646 (GRCm39) |
V312I |
possibly damaging |
Het |
| Rgs20 |
T |
A |
1: 5,091,262 (GRCm39) |
|
probably null |
Het |
| Slc11a2 |
C |
A |
15: 100,307,963 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r124 |
C |
A |
7: 20,994,188 (GRCm39) |
V119F |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,523 (GRCm39) |
T230A |
possibly damaging |
Het |
| Zfp945 |
T |
C |
17: 23,071,360 (GRCm39) |
K180E |
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 |
|
R0693:Msl3l2
|
UTSW |
10 |
55,991,947 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- GGACGACTGTTACTACATCAACCGC -3'
(R):5'- GCAAACATGGCACTCCCTTCCTTG -3'
Sequencing Primer
(F):5'- ATCCTTGAGTGCTACGTGC -3'
(R):5'- TTCCTTGCCAGGAGTCAGAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation