Incidental Mutation 'R4243:Mysm1'
ID |
320288 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mysm1
|
Ensembl Gene |
ENSMUSG00000062627 |
Gene Name |
myb-like, SWIRM and MPN domains 1 |
Synonyms |
C130067A03Rik, C530050H10Rik |
MMRRC Submission |
041643-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R4243 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94857248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075872]
|
AlphaFold |
Q69Z66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075872
AA Change: V120A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075269 Gene: ENSMUSG00000062627 AA Change: V120A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTTCAAGAGCTGAACCACAC -3'
(R):5'- GGTTTAACAGCAGCTCCCAGTC -3'
Sequencing Primer
(F):5'- ATGTTTCTGGTCTTCAAAGATCTG -3'
(R):5'- TTCACAGTGGTTGCCCAGAAC -3'
|
Posted On |
2015-06-12 |