Incidental Mutation 'R6517:Myo1g'
ID |
520812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1g
|
Ensembl Gene |
ENSMUSG00000020437 |
Gene Name |
myosin IG |
Synonyms |
E430002D17Rik |
MMRRC Submission |
044644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6517 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6462509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 541
(N541D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003459]
[ENSMUST00000144725]
|
AlphaFold |
Q5SUA5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003459
AA Change: N541D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000003459 Gene: ENSMUSG00000020437 AA Change: N541D
Domain | Start | End | E-Value | Type |
MYSc
|
9 |
714 |
N/A |
SMART |
IQ
|
715 |
737 |
2.79e0 |
SMART |
Pfam:Myosin_TH1
|
821 |
1024 |
2.8e-42 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134639
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144725
|
SMART Domains |
Protein: ENSMUSP00000120975 Gene: ENSMUSG00000020437
Domain | Start | End | E-Value | Type |
Blast:MYSc
|
9 |
43 |
8e-14 |
BLAST |
low complexity region
|
48 |
60 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156878
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced B cell spreading, migration and homing and impaired T cell motility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
C |
T |
14: 29,704,673 (GRCm39) |
Q58* |
probably null |
Het |
Adamts20 |
A |
C |
15: 94,180,985 (GRCm39) |
|
probably null |
Het |
Alpk3 |
T |
A |
7: 80,728,327 (GRCm39) |
S486T |
possibly damaging |
Het |
Cep162 |
T |
A |
9: 87,104,227 (GRCm39) |
E553V |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,304,360 (GRCm39) |
I370V |
possibly damaging |
Het |
Ets1 |
A |
T |
9: 32,664,093 (GRCm39) |
|
probably null |
Het |
Fbxo38 |
C |
T |
18: 62,666,634 (GRCm39) |
E180K |
probably damaging |
Het |
Fscn1 |
A |
G |
5: 142,957,741 (GRCm39) |
D296G |
probably damaging |
Het |
Glul |
A |
G |
1: 153,783,779 (GRCm39) |
I325V |
probably benign |
Het |
Keg1 |
A |
G |
19: 12,693,274 (GRCm39) |
D99G |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
Mdfic |
T |
A |
6: 15,770,324 (GRCm39) |
I110N |
probably damaging |
Het |
Nos3 |
T |
A |
5: 24,588,622 (GRCm39) |
V1116D |
probably damaging |
Het |
Or8h8 |
A |
G |
2: 86,753,441 (GRCm39) |
I145T |
probably benign |
Het |
Piwil2 |
G |
T |
14: 70,611,785 (GRCm39) |
Q954K |
probably benign |
Het |
Ppm1l |
T |
C |
3: 69,224,916 (GRCm39) |
M6T |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,327,907 (GRCm39) |
E861V |
possibly damaging |
Het |
Senp2 |
C |
T |
16: 21,845,474 (GRCm39) |
T236M |
possibly damaging |
Het |
Sgo2b |
A |
T |
8: 64,384,528 (GRCm39) |
V156D |
probably damaging |
Het |
Sis |
T |
C |
3: 72,814,475 (GRCm39) |
Y1585C |
probably damaging |
Het |
Slc22a22 |
A |
G |
15: 57,114,365 (GRCm39) |
S321P |
probably benign |
Het |
Slu7 |
T |
A |
11: 43,328,975 (GRCm39) |
Y66N |
probably damaging |
Het |
Stra6l |
A |
G |
4: 45,879,473 (GRCm39) |
H365R |
probably benign |
Het |
Stt3b |
T |
C |
9: 115,096,410 (GRCm39) |
T246A |
probably benign |
Het |
Taf1c |
T |
G |
8: 120,330,986 (GRCm39) |
N44T |
possibly damaging |
Het |
Tcirg1 |
C |
T |
19: 3,951,933 (GRCm39) |
V376M |
probably damaging |
Het |
Tkt |
A |
G |
14: 30,271,280 (GRCm39) |
D17G |
probably damaging |
Het |
Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,889,689 (GRCm39) |
V672A |
probably benign |
Het |
Zdbf2 |
T |
G |
1: 63,344,679 (GRCm39) |
D1019E |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,032,150 (GRCm39) |
C597S |
possibly damaging |
Het |
Zfp986 |
G |
C |
4: 145,625,870 (GRCm39) |
D177H |
probably benign |
Het |
|
Other mutations in Myo1g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Myo1g
|
APN |
11 |
6,465,856 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01608:Myo1g
|
APN |
11 |
6,466,780 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01679:Myo1g
|
APN |
11 |
6,468,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01830:Myo1g
|
APN |
11 |
6,464,522 (GRCm39) |
nonsense |
probably null |
|
IGL02332:Myo1g
|
APN |
11 |
6,470,766 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02813:Myo1g
|
APN |
11 |
6,468,743 (GRCm39) |
makesense |
probably null |
|
IGL02988:Myo1g
|
APN |
11 |
6,458,183 (GRCm39) |
splice site |
probably benign |
|
IGL03178:Myo1g
|
APN |
11 |
6,462,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Myo1g
|
UTSW |
11 |
6,465,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R0334:Myo1g
|
UTSW |
11 |
6,461,084 (GRCm39) |
splice site |
probably benign |
|
R0513:Myo1g
|
UTSW |
11 |
6,460,203 (GRCm39) |
missense |
probably benign |
0.00 |
R0730:Myo1g
|
UTSW |
11 |
6,470,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R1054:Myo1g
|
UTSW |
11 |
6,468,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1434:Myo1g
|
UTSW |
11 |
6,459,372 (GRCm39) |
missense |
probably benign |
0.00 |
R1500:Myo1g
|
UTSW |
11 |
6,470,811 (GRCm39) |
missense |
probably benign |
|
R1513:Myo1g
|
UTSW |
11 |
6,465,140 (GRCm39) |
missense |
probably damaging |
0.99 |
R1720:Myo1g
|
UTSW |
11 |
6,462,490 (GRCm39) |
missense |
probably benign |
0.44 |
R1774:Myo1g
|
UTSW |
11 |
6,465,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Myo1g
|
UTSW |
11 |
6,462,283 (GRCm39) |
missense |
probably benign |
0.02 |
R1957:Myo1g
|
UTSW |
11 |
6,462,159 (GRCm39) |
critical splice donor site |
probably null |
|
R1978:Myo1g
|
UTSW |
11 |
6,470,829 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2212:Myo1g
|
UTSW |
11 |
6,467,870 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2438:Myo1g
|
UTSW |
11 |
6,461,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Myo1g
|
UTSW |
11 |
6,462,539 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3158:Myo1g
|
UTSW |
11 |
6,464,527 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3159:Myo1g
|
UTSW |
11 |
6,464,527 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3413:Myo1g
|
UTSW |
11 |
6,467,870 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3816:Myo1g
|
UTSW |
11 |
6,460,926 (GRCm39) |
missense |
probably benign |
0.02 |
R3872:Myo1g
|
UTSW |
11 |
6,464,886 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3946:Myo1g
|
UTSW |
11 |
6,470,760 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4551:Myo1g
|
UTSW |
11 |
6,467,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Myo1g
|
UTSW |
11 |
6,462,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Myo1g
|
UTSW |
11 |
6,469,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Myo1g
|
UTSW |
11 |
6,466,785 (GRCm39) |
splice site |
probably null |
|
R4713:Myo1g
|
UTSW |
11 |
6,466,080 (GRCm39) |
missense |
probably null |
1.00 |
R4964:Myo1g
|
UTSW |
11 |
6,465,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5183:Myo1g
|
UTSW |
11 |
6,458,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R5191:Myo1g
|
UTSW |
11 |
6,465,105 (GRCm39) |
missense |
probably benign |
|
R5192:Myo1g
|
UTSW |
11 |
6,464,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R5726:Myo1g
|
UTSW |
11 |
6,459,420 (GRCm39) |
missense |
probably benign |
0.06 |
R5841:Myo1g
|
UTSW |
11 |
6,457,000 (GRCm39) |
missense |
probably benign |
0.05 |
R5942:Myo1g
|
UTSW |
11 |
6,464,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:Myo1g
|
UTSW |
11 |
6,469,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R6563:Myo1g
|
UTSW |
11 |
6,467,146 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7214:Myo1g
|
UTSW |
11 |
6,461,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Myo1g
|
UTSW |
11 |
6,459,416 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7265:Myo1g
|
UTSW |
11 |
6,460,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7750:Myo1g
|
UTSW |
11 |
6,464,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Myo1g
|
UTSW |
11 |
6,467,569 (GRCm39) |
critical splice donor site |
probably null |
|
R8910:Myo1g
|
UTSW |
11 |
6,468,009 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9035:Myo1g
|
UTSW |
11 |
6,464,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R9103:Myo1g
|
UTSW |
11 |
6,466,153 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9162:Myo1g
|
UTSW |
11 |
6,460,897 (GRCm39) |
missense |
probably damaging |
0.98 |
R9487:Myo1g
|
UTSW |
11 |
6,456,913 (GRCm39) |
missense |
probably benign |
|
X0017:Myo1g
|
UTSW |
11 |
6,466,077 (GRCm39) |
critical splice donor site |
probably null |
|
X0061:Myo1g
|
UTSW |
11 |
6,467,967 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Myo1g
|
UTSW |
11 |
6,469,045 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Myo1g
|
UTSW |
11 |
6,467,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCATGGCAGGGCAAAGC -3'
(R):5'- CAGAGGGAAACTTATCCTGAGG -3'
Sequencing Primer
(F):5'- GCCCACCTGACCCAATATAG -3'
(R):5'- GGGAAACTTATCCTGAGGAGAAC -3'
|
Posted On |
2018-06-06 |