Incidental Mutation 'IGL02815:Mysm1'
ID |
360784 |
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 # |
IGL02815
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 94845285 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: ENSMUST00000124820
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125427
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,941,729 (GRCm39) |
I3F |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
Ap3m1 |
T |
C |
14: 21,086,750 (GRCm39) |
D393G |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,528,299 (GRCm39) |
I363F |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,324,332 (GRCm39) |
|
probably null |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,954,226 (GRCm39) |
|
probably null |
Het |
Emc2 |
T |
A |
15: 43,371,326 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,102,628 (GRCm39) |
S534P |
probably benign |
Het |
Farp2 |
A |
C |
1: 93,488,007 (GRCm39) |
N78T |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,411,857 (GRCm39) |
N106K |
probably benign |
Het |
Gc |
A |
G |
5: 89,605,518 (GRCm39) |
|
probably null |
Het |
Gemin5 |
T |
C |
11: 58,037,235 (GRCm39) |
Y660C |
probably damaging |
Het |
Gfpt2 |
T |
A |
11: 49,714,084 (GRCm39) |
D280E |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,300,249 (GRCm39) |
E348G |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,741,037 (GRCm39) |
T1874M |
probably damaging |
Het |
Klrb1b |
A |
G |
6: 128,797,937 (GRCm39) |
L52P |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,007,863 (GRCm39) |
|
probably benign |
Het |
Med17 |
A |
C |
9: 15,173,563 (GRCm39) |
M637R |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,957,601 (GRCm39) |
L1454P |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,359,239 (GRCm39) |
T666A |
probably benign |
Het |
Nbas |
T |
A |
12: 13,360,267 (GRCm39) |
S348T |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,686,797 (GRCm39) |
K1226M |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,176,753 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,769,558 (GRCm39) |
V123D |
probably damaging |
Het |
Pilra |
G |
A |
5: 137,829,567 (GRCm39) |
P163S |
probably benign |
Het |
Plekha4 |
T |
C |
7: 45,187,836 (GRCm39) |
S303P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,094,265 (GRCm39) |
E549G |
probably damaging |
Het |
Ptchd3 |
C |
T |
11: 121,732,430 (GRCm39) |
S440L |
probably benign |
Het |
Rock2 |
A |
G |
12: 17,016,702 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
G |
2: 66,155,202 (GRCm39) |
S586P |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,338,979 (GRCm39) |
H95Q |
probably damaging |
Het |
Spata31d1d |
A |
T |
13: 59,874,678 (GRCm39) |
N952K |
possibly damaging |
Het |
Stard10 |
T |
A |
7: 100,993,205 (GRCm39) |
C254S |
probably benign |
Het |
Taar8a |
A |
T |
10: 23,953,278 (GRCm39) |
Y294F |
probably benign |
Het |
Tm7sf3 |
A |
T |
6: 146,514,971 (GRCm39) |
|
probably null |
Het |
Tnfrsf8 |
A |
T |
4: 145,025,348 (GRCm39) |
V75D |
possibly damaging |
Het |
Tor1aip1 |
C |
T |
1: 155,911,662 (GRCm39) |
R107H |
probably damaging |
Het |
Trpc4 |
C |
T |
3: 54,206,695 (GRCm39) |
|
probably benign |
Het |
Unc13c |
A |
G |
9: 73,447,545 (GRCm39) |
L1885P |
possibly damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,990,856 (GRCm39) |
D835G |
possibly damaging |
Het |
Zfp462 |
A |
T |
4: 55,051,303 (GRCm39) |
I1172F |
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 |
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 |
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 |
2015-12-18 |