Incidental Mutation 'IGL03273:Mysm1'
| ID |
415324 |
| 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: 0.904)
|
| Stock # |
IGL03273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 94853955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 215
(S215A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075872]
|
| AlphaFold |
Q69Z66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075872
AA Change: S215A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
AA Change: S215A
| 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: 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,411,356 (GRCm39) |
I102F |
probably damaging |
Het |
| Aldoart1 |
T |
C |
4: 72,770,346 (GRCm39) |
K154R |
probably benign |
Het |
| Cdin1 |
A |
G |
2: 115,462,472 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,479,666 (GRCm39) |
K349E |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,103,484 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,696,033 (GRCm39) |
N130S |
probably damaging |
Het |
| Dnah5 |
T |
G |
15: 28,458,795 (GRCm39) |
F4477L |
probably damaging |
Het |
| Fbln7 |
A |
T |
2: 128,737,390 (GRCm39) |
T402S |
probably benign |
Het |
| Frem2 |
A |
C |
3: 53,444,930 (GRCm39) |
Y2400* |
probably null |
Het |
| Gm11937 |
C |
T |
11: 99,500,627 (GRCm39) |
|
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,098 (GRCm39) |
D127G |
probably benign |
Het |
| Hrh3 |
T |
A |
2: 179,742,441 (GRCm39) |
T396S |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,130,719 (GRCm39) |
N512D |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,032,905 (GRCm39) |
D556E |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,001 (GRCm39) |
K363N |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,130 (GRCm39) |
S1374R |
probably damaging |
Het |
| Samt2b |
A |
T |
X: 153,122,697 (GRCm39) |
F114L |
probably benign |
Het |
| Slitrk2 |
T |
C |
X: 65,697,602 (GRCm39) |
I31T |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,017,599 (GRCm39) |
N42S |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,180,574 (GRCm39) |
L600P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,949,547 (GRCm39) |
S1692G |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,128,576 (GRCm39) |
V534L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,494 (GRCm39) |
K607E |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation