Incidental Mutation 'R6129:Mysm1'
| ID |
487562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mysm1
|
| Ensembl Gene |
ENSMUSG00000062627 |
| Gene Name |
myb-like, SWIRM and MPN domains 1 |
| Synonyms |
C130067A03Rik, C530050H10Rik |
| MMRRC Submission |
044276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R6129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
94830277-94867337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94856192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 135
(R135L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075872]
|
| AlphaFold |
Q69Z66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075872
AA Change: R135L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627
AA Change: R135L
| 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 |
0.3952 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
A |
11: 69,789,137 (GRCm39) |
Y354F |
probably damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Acsm2 |
G |
A |
7: 119,190,470 (GRCm39) |
|
probably null |
Het |
| Adgrl1 |
A |
G |
8: 84,645,616 (GRCm39) |
N80D |
probably damaging |
Het |
| Ankrd34a |
T |
A |
3: 96,505,274 (GRCm39) |
Y159* |
probably null |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,202 (GRCm39) |
V122M |
possibly damaging |
Het |
| Brms1l |
A |
G |
12: 55,914,970 (GRCm39) |
H293R |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,354,986 (GRCm39) |
I90V |
possibly damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,461 (GRCm39) |
T94A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,588,738 (GRCm39) |
D271G |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,387,127 (GRCm39) |
G2141S |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,340 (GRCm39) |
Y2156* |
probably null |
Het |
| Ctnnal1 |
C |
A |
4: 56,829,573 (GRCm39) |
A419S |
possibly damaging |
Het |
| Cyp27a1 |
G |
A |
1: 74,774,851 (GRCm39) |
R264H |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,487 (GRCm39) |
T306S |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,600,609 (GRCm39) |
Y586N |
possibly damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
C |
T |
7: 39,058,024 (GRCm39) |
A532T |
possibly damaging |
Het |
| Gm5431 |
A |
G |
11: 48,780,418 (GRCm39) |
L168P |
probably damaging |
Het |
| Hao2 |
T |
C |
3: 98,787,842 (GRCm39) |
T196A |
probably benign |
Het |
| Hdac9 |
A |
C |
12: 34,337,474 (GRCm39) |
L669R |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,421,198 (GRCm39) |
V755A |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,883,969 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrn3 |
G |
A |
12: 41,503,787 (GRCm39) |
Q177* |
probably null |
Het |
| Me1 |
A |
T |
9: 86,533,009 (GRCm39) |
V151E |
probably damaging |
Het |
| Mkx |
A |
G |
18: 6,992,888 (GRCm39) |
V132A |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,522,836 (GRCm39) |
S643P |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,011,483 (GRCm39) |
F4L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,542,567 (GRCm39) |
C1773* |
probably null |
Het |
| Pcbp3 |
T |
C |
10: 76,599,182 (GRCm39) |
E318G |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,410,912 (GRCm39) |
K984E |
probably damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,379 (GRCm39) |
N213D |
possibly damaging |
Het |
| Pde8b |
G |
A |
13: 95,178,467 (GRCm39) |
A509V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
A |
G |
14: 30,962,820 (GRCm39) |
Y137H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,543 (GRCm39) |
V1315A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,955,135 (GRCm39) |
C571R |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,819,990 (GRCm39) |
W251* |
probably null |
Het |
| Prps1l1 |
A |
G |
12: 35,035,329 (GRCm39) |
E148G |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,334,589 (GRCm39) |
Y592H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rufy1 |
A |
T |
11: 50,308,075 (GRCm39) |
L259Q |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,424,271 (GRCm39) |
F1112S |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,815,144 (GRCm39) |
V622A |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,059,513 (GRCm39) |
C1124F |
probably damaging |
Het |
| Stk10 |
T |
A |
11: 32,565,871 (GRCm39) |
C872S |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,158 (GRCm39) |
N1196I |
possibly damaging |
Het |
| Tnxa |
A |
G |
17: 35,019,262 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zscan4b |
T |
A |
7: 10,635,815 (GRCm39) |
T171S |
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 |
|
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 |
|
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'- AGAAACTCTCAGCAGTAAGACTAG -3'
(R):5'- GGGCTTGGATTTTCAACACATAG -3'
Sequencing Primer
(F):5'- CTCTCAGCAGTAAGACTAGTTAGCTG -3'
(R):5'- TAATGTGGCAGCTGCTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation