Incidental Mutation 'R1500:Myo1g'
ID |
169193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1g
|
Ensembl Gene |
ENSMUSG00000020437 |
Gene Name |
myosin IG |
Synonyms |
E430002D17Rik |
MMRRC Submission |
039551-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1500 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6470811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 15
(Y15F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003459]
[ENSMUST00000134489]
[ENSMUST00000144725]
[ENSMUST00000146536]
|
AlphaFold |
Q5SUA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003459
AA Change: Y15F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003459 Gene: ENSMUSG00000020437 AA Change: Y15F
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: ENSMUST00000124818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129570
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134489
|
SMART Domains |
Protein: ENSMUSP00000122356 Gene: ENSMUSG00000020437
Domain | Start | End | E-Value | Type |
Pfam:Myosin_head
|
51 |
99 |
5.9e-15 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000144725
AA Change: Y15F
|
SMART Domains |
Protein: ENSMUSP00000120975 Gene: ENSMUSG00000020437 AA Change: Y15F
Domain | Start | End | E-Value | Type |
Blast:MYSc
|
9 |
43 |
8e-14 |
BLAST |
low complexity region
|
48 |
60 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146536
AA Change: Y15F
|
SMART Domains |
Protein: ENSMUSP00000122438 Gene: ENSMUSG00000020437 AA Change: Y15F
Domain | Start | End | E-Value | Type |
Blast:MYSc
|
9 |
38 |
2e-13 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156878
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147762
|
Meta Mutation Damage Score |
0.0669 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
Validation Efficiency |
95% (81/85) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
A |
G |
17: 31,330,253 (GRCm39) |
D518G |
probably benign |
Het |
Acaca |
T |
A |
11: 84,184,810 (GRCm39) |
D96E |
probably benign |
Het |
Actbl2 |
G |
A |
13: 111,391,854 (GRCm39) |
R63Q |
probably damaging |
Het |
Adamts6 |
T |
A |
13: 104,449,389 (GRCm39) |
H266Q |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,263,205 (GRCm39) |
V75A |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,726,631 (GRCm39) |
S888P |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,325,050 (GRCm39) |
F534S |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Bcam |
T |
A |
7: 19,492,889 (GRCm39) |
D484V |
possibly damaging |
Het |
Bltp2 |
C |
A |
11: 78,174,958 (GRCm39) |
Q1698K |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,713 (GRCm39) |
Y1240H |
probably benign |
Het |
Cfh |
T |
C |
1: 140,028,614 (GRCm39) |
Y500C |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,490,121 (GRCm39) |
A478V |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,038,715 (GRCm39) |
D122G |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,976,564 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,991,879 (GRCm39) |
K1230E |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
E330020D12Rik |
A |
T |
1: 153,284,125 (GRCm39) |
|
noncoding transcript |
Het |
Ece2 |
T |
C |
16: 20,462,992 (GRCm39) |
L639P |
probably damaging |
Het |
Epha3 |
A |
T |
16: 63,416,025 (GRCm39) |
V658E |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,319,804 (GRCm39) |
T632I |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,993,617 (GRCm39) |
T883A |
probably damaging |
Het |
Extl2 |
T |
C |
3: 115,820,789 (GRCm39) |
V198A |
probably benign |
Het |
Fktn |
G |
T |
4: 53,735,065 (GRCm39) |
M234I |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,340,966 (GRCm39) |
S400P |
probably benign |
Het |
Gldc |
A |
C |
19: 30,091,225 (GRCm39) |
V790G |
possibly damaging |
Het |
Gm14496 |
A |
C |
2: 181,633,026 (GRCm39) |
Q3P |
probably benign |
Het |
H2-D1 |
G |
A |
17: 35,482,564 (GRCm39) |
E95K |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,409,521 (GRCm39) |
E14G |
probably benign |
Het |
Jag1 |
A |
T |
2: 136,957,558 (GRCm39) |
N51K |
possibly damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,800,635 (GRCm39) |
D14G |
possibly damaging |
Het |
Krt84 |
A |
G |
15: 101,438,659 (GRCm39) |
V276A |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,348,948 (GRCm39) |
I660T |
possibly damaging |
Het |
Lcmt2 |
A |
T |
2: 120,970,488 (GRCm39) |
S198R |
probably benign |
Het |
Lcn6 |
G |
A |
2: 25,567,131 (GRCm39) |
R44H |
probably benign |
Het |
Lrfn5 |
A |
T |
12: 61,886,527 (GRCm39) |
H105L |
probably damaging |
Het |
Lrit1 |
G |
A |
14: 36,784,091 (GRCm39) |
R473K |
probably benign |
Het |
Marchf1 |
A |
G |
8: 66,921,042 (GRCm39) |
T495A |
probably damaging |
Het |
Marveld3 |
T |
G |
8: 110,675,174 (GRCm39) |
|
probably null |
Het |
Mbd3 |
T |
C |
10: 80,230,420 (GRCm39) |
D160G |
possibly damaging |
Het |
Mrc2 |
T |
G |
11: 105,238,551 (GRCm39) |
C1233G |
probably damaging |
Het |
Ms4a13 |
T |
G |
19: 11,161,225 (GRCm39) |
T105P |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,480,951 (GRCm39) |
Y306H |
probably damaging |
Het |
Muc3a |
T |
C |
5: 137,244,958 (GRCm39) |
|
probably benign |
Het |
Nae1 |
A |
T |
8: 105,250,216 (GRCm39) |
Y226N |
probably benign |
Het |
Nlrp9a |
A |
G |
7: 26,267,316 (GRCm39) |
S715G |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,633 (GRCm39) |
M282L |
probably benign |
Het |
Or2ag17 |
T |
C |
7: 106,390,028 (GRCm39) |
Y60C |
probably damaging |
Het |
Or4s2b |
T |
A |
2: 88,508,219 (GRCm39) |
S7T |
possibly damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,612 (GRCm39) |
S267C |
probably damaging |
Het |
Or8g55 |
G |
T |
9: 39,784,707 (GRCm39) |
M45I |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,069,129 (GRCm39) |
T123A |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,466,691 (GRCm39) |
N62I |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,408,890 (GRCm39) |
V2459A |
probably damaging |
Het |
Prb1a |
T |
A |
6: 132,184,439 (GRCm39) |
Q398L |
unknown |
Het |
Prkab2 |
T |
C |
3: 97,571,263 (GRCm39) |
L165S |
probably damaging |
Het |
Prl3d2 |
C |
G |
13: 27,305,689 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
G |
A |
13: 67,143,472 (GRCm39) |
G435D |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,236,729 (GRCm39) |
L224P |
probably damaging |
Het |
Rasl2-9 |
C |
T |
7: 5,128,441 (GRCm39) |
W163* |
probably null |
Het |
Rgs5 |
A |
G |
1: 169,517,983 (GRCm39) |
|
probably null |
Het |
Rnf19b |
T |
C |
4: 128,972,754 (GRCm39) |
L255P |
probably damaging |
Het |
Rp9 |
A |
C |
9: 22,368,751 (GRCm39) |
N69K |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,073,210 (GRCm39) |
S686I |
probably damaging |
Het |
Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
Spp2 |
C |
A |
1: 88,340,015 (GRCm39) |
Q5K |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
Syncrip |
A |
C |
9: 88,361,949 (GRCm39) |
S55R |
probably damaging |
Het |
Tacc3 |
T |
C |
5: 33,818,652 (GRCm39) |
L29P |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,065,120 (GRCm39) |
T1517A |
probably damaging |
Het |
Tmem140 |
A |
G |
6: 34,849,660 (GRCm39) |
M59V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,575,872 (GRCm39) |
A25007E |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,297,615 (GRCm39) |
T253A |
possibly damaging |
Het |
Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
Usp38 |
A |
G |
8: 81,722,399 (GRCm39) |
L374P |
probably damaging |
Het |
Vmn1r42 |
T |
A |
6: 89,822,483 (GRCm39) |
I29L |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,477,242 (GRCm39) |
V390M |
probably benign |
Het |
Vmp1 |
A |
G |
11: 86,552,026 (GRCm39) |
Y113H |
possibly damaging |
Het |
Wdr20 |
T |
C |
12: 110,760,464 (GRCm39) |
M450T |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,061,770 (GRCm39) |
V557A |
unknown |
Het |
Zpld1 |
T |
C |
16: 55,053,935 (GRCm39) |
N286D |
probably damaging |
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 |
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 |
R6517:Myo1g
|
UTSW |
11 |
6,462,509 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GGTATGTGTAGCCTTGTCCCCATTC -3'
(R):5'- AGACCCCATCAGGACAGACAGTTAG -3'
Sequencing Primer
(F):5'- ATTCCTGACGATGGGACCAG -3'
(R):5'- ACAGTTAGGCATGGACCTTG -3'
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Posted On |
2014-04-13 |