Incidental Mutation 'IGL00908:Mysm1'
| ID |
27220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mysm1
|
| Ensembl Gene |
ENSMUSG00000062627 |
| Gene Name |
myb-like, SWIRM and MPN domains 1 |
| Synonyms |
C130067A03Rik, C530050H10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
IGL00908
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94847172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 508
(D508G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075872]
|
| AlphaFold |
Q69Z66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075872
AA Change: D508G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
AA Change: D508G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
SANT
|
114 |
162 |
3.24e-13 |
SMART |
|
low complexity region
|
214 |
229 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
365 |
452 |
3.1e-22 |
PFAM |
|
JAB_MPN
|
569 |
691 |
1.63e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
G |
T |
15: 83,206,790 (GRCm39) |
P266Q |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,548,918 (GRCm39) |
D61E |
probably benign |
Het |
| Cad |
T |
C |
5: 31,216,398 (GRCm39) |
I190T |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,723,508 (GRCm39) |
T558I |
probably damaging |
Het |
| Dmkn |
G |
A |
7: 30,477,695 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,422,649 (GRCm39) |
V72E |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,890,870 (GRCm39) |
D803G |
probably benign |
Het |
| Il2rg |
A |
T |
X: 100,308,454 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
T |
C |
8: 48,122,296 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Kdm6a |
T |
C |
X: 18,102,905 (GRCm39) |
F211L |
possibly damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,745,821 (GRCm39) |
D105G |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,900,447 (GRCm39) |
I68T |
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,596,299 (GRCm39) |
D415E |
probably benign |
Het |
| Mospd2 |
C |
T |
X: 163,745,121 (GRCm39) |
R135Q |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,297,157 (GRCm39) |
I960V |
probably benign |
Het |
| Ncald |
C |
A |
15: 37,372,451 (GRCm39) |
M131I |
possibly damaging |
Het |
| Nup188 |
T |
C |
2: 30,223,412 (GRCm39) |
S1096P |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,496,656 (GRCm39) |
E69K |
probably damaging |
Het |
| Ppp1cb |
C |
T |
5: 32,635,412 (GRCm39) |
R19* |
probably null |
Het |
| Rasl11b |
G |
A |
5: 74,356,772 (GRCm39) |
V50I |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,782,579 (GRCm39) |
R319K |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,782,216 (GRCm39) |
D172G |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,963,106 (GRCm39) |
R752C |
probably damaging |
Het |
|
| Other mutations in Mysm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Mysm1
|
APN |
4 |
94,861,146 (GRCm39) |
splice site |
probably benign |
|
|
IGL00657:Mysm1
|
APN |
4 |
94,848,602 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01095:Mysm1
|
APN |
4 |
94,856,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02454:Mysm1
|
APN |
4 |
94,858,741 (GRCm39) |
splice site |
probably benign |
|
|
IGL02544:Mysm1
|
APN |
4 |
94,840,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02815:Mysm1
|
APN |
4 |
94,845,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02966:Mysm1
|
APN |
4 |
94,863,523 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03273:Mysm1
|
APN |
4 |
94,853,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1746:Mysm1
|
UTSW |
4 |
94,836,648 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Mysm1
|
UTSW |
4 |
94,858,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1980:Mysm1
|
UTSW |
4 |
94,840,450 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3424:Mysm1
|
UTSW |
4 |
94,853,558 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3700:Mysm1
|
UTSW |
4 |
94,858,889 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4243:Mysm1
|
UTSW |
4 |
94,857,248 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4798:Mysm1
|
UTSW |
4 |
94,853,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4884:Mysm1
|
UTSW |
4 |
94,847,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4983:Mysm1
|
UTSW |
4 |
94,861,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5024:Mysm1
|
UTSW |
4 |
94,839,253 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5213:Mysm1
|
UTSW |
4 |
94,836,614 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5758:Mysm1
|
UTSW |
4 |
94,840,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6129:Mysm1
|
UTSW |
4 |
94,856,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Mysm1
|
UTSW |
4 |
94,849,964 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7535:Mysm1
|
UTSW |
4 |
94,840,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7793:Mysm1
|
UTSW |
4 |
94,853,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Mysm1
|
UTSW |
4 |
94,835,204 (GRCm39) |
makesense |
probably null |
|
|
R7923:Mysm1
|
UTSW |
4 |
94,850,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Mysm1
|
UTSW |
4 |
94,848,627 (GRCm39) |
nonsense |
probably null |
|
|
R8352:Mysm1
|
UTSW |
4 |
94,863,510 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8389:Mysm1
|
UTSW |
4 |
94,853,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8452:Mysm1
|
UTSW |
4 |
94,863,510 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8738:Mysm1
|
UTSW |
4 |
94,856,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Mysm1
|
UTSW |
4 |
94,835,294 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9497:Mysm1
|
UTSW |
4 |
94,848,635 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0021:Mysm1
|
UTSW |
4 |
94,863,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation