Incidental Mutation 'IGL00424:Mysm1'
| ID |
6629 |
| 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 # |
IGL00424
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 94861146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075872]
|
| AlphaFold |
Q69Z66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075872
|
| SMART Domains |
Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155935
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,988,260 (GRCm39) |
E108G |
probably benign |
Het |
| Afap1l2 |
A |
G |
19: 56,990,740 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,715,607 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,059,087 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,006,601 (GRCm39) |
R890W |
possibly damaging |
Het |
| Fancb |
A |
C |
X: 163,766,334 (GRCm39) |
Q272P |
probably damaging |
Het |
| Fmnl1 |
G |
A |
11: 103,088,166 (GRCm39) |
W1008* |
probably null |
Het |
| Gfra2 |
T |
A |
14: 71,205,679 (GRCm39) |
|
probably benign |
Het |
| Gjd2 |
A |
G |
2: 113,842,258 (GRCm39) |
I73T |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,036,461 (GRCm39) |
I1133T |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,101,190 (GRCm39) |
V594E |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,532,208 (GRCm39) |
V474E |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 77,900,621 (GRCm39) |
A573T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,911,574 (GRCm39) |
D348G |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,475,718 (GRCm39) |
Y36C |
probably benign |
Het |
| Rfx6 |
T |
A |
10: 51,557,982 (GRCm39) |
C152S |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,933,666 (GRCm39) |
F2362C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,274,346 (GRCm39) |
|
probably benign |
Het |
| Trf |
G |
A |
9: 103,104,135 (GRCm39) |
A76V |
probably damaging |
Het |
| Tubgcp3 |
C |
T |
8: 12,671,809 (GRCm39) |
R811H |
probably benign |
Het |
| Zfp820 |
A |
T |
17: 22,038,292 (GRCm39) |
H345Q |
probably damaging |
Het |
|
| Other mutations in Mysm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Mysm1
|
APN |
4 |
94,848,602 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00908:Mysm1
|
APN |
4 |
94,847,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation