Incidental Mutation 'IGL01095:Mysm1'
ID |
50887 |
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 # |
IGL01095
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 94856106 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 null
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,570 (GRCm39) |
T28A |
possibly damaging |
Het |
Aldh8a1 |
A |
G |
10: 21,265,180 (GRCm39) |
E269G |
probably benign |
Het |
Alkbh7 |
A |
G |
17: 57,304,470 (GRCm39) |
|
probably null |
Het |
Ap1g2 |
T |
C |
14: 55,342,571 (GRCm39) |
T129A |
probably benign |
Het |
Ap1s1 |
A |
G |
5: 137,070,663 (GRCm39) |
I117T |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,415,195 (GRCm39) |
P119S |
possibly damaging |
Het |
Chid1 |
A |
G |
7: 141,110,142 (GRCm39) |
V62A |
probably damaging |
Het |
Cpa1 |
A |
T |
6: 30,642,968 (GRCm39) |
I299F |
probably benign |
Het |
Cuzd1 |
A |
G |
7: 130,917,865 (GRCm39) |
V245A |
probably damaging |
Het |
Ddx39b |
T |
C |
17: 35,465,937 (GRCm39) |
S71P |
probably benign |
Het |
Ddx42 |
A |
G |
11: 106,138,325 (GRCm39) |
Y708C |
probably damaging |
Het |
Dnah3 |
C |
A |
7: 119,550,820 (GRCm39) |
L3166F |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,816,213 (GRCm39) |
E114G |
probably benign |
Het |
Fap |
G |
A |
2: 62,354,545 (GRCm39) |
T448I |
possibly damaging |
Het |
Fhl2 |
A |
T |
1: 43,170,841 (GRCm39) |
Y158N |
probably benign |
Het |
Fscb |
A |
G |
12: 64,520,155 (GRCm39) |
V437A |
possibly damaging |
Het |
Il18 |
A |
T |
9: 50,490,629 (GRCm39) |
D88V |
probably damaging |
Het |
Il5ra |
A |
T |
6: 106,719,605 (GRCm39) |
|
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,622,546 (GRCm39) |
Q302L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,322,776 (GRCm39) |
Y1857* |
probably null |
Het |
Meis2 |
T |
C |
2: 115,694,905 (GRCm39) |
T406A |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,721,120 (GRCm39) |
S346R |
probably benign |
Het |
Myh15 |
A |
T |
16: 48,952,378 (GRCm39) |
K816M |
probably damaging |
Het |
Nyap1 |
C |
A |
5: 137,736,346 (GRCm39) |
R47L |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,910,954 (GRCm39) |
Y209H |
probably damaging |
Het |
Or2v2 |
T |
G |
11: 49,003,680 (GRCm39) |
Y291S |
probably damaging |
Het |
Or4g16 |
A |
G |
2: 111,136,966 (GRCm39) |
R139G |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,498 (GRCm39) |
D167G |
probably benign |
Het |
Or8b42 |
A |
G |
9: 38,341,811 (GRCm39) |
I78V |
probably benign |
Het |
Or8d6 |
T |
C |
9: 39,853,976 (GRCm39) |
V140A |
probably benign |
Het |
Pde4b |
T |
C |
4: 102,363,241 (GRCm39) |
|
probably null |
Het |
Psd3 |
G |
A |
8: 68,361,165 (GRCm39) |
T99M |
probably damaging |
Het |
R3hcc1 |
T |
C |
14: 69,937,477 (GRCm39) |
E390G |
probably damaging |
Het |
Rabgap1l |
A |
C |
1: 160,566,539 (GRCm39) |
C58W |
probably benign |
Het |
Rasd1 |
A |
G |
11: 59,855,117 (GRCm39) |
I121T |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,051 (GRCm39) |
N1284D |
probably benign |
Het |
Tpr |
T |
C |
1: 150,285,891 (GRCm39) |
V525A |
possibly 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 |
IGL00908:Mysm1
|
APN |
4 |
94,847,172 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-06-21 |