Incidental Mutation 'R1434:Myo1g'
| ID |
159394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1g
|
| Ensembl Gene |
ENSMUSG00000020437 |
| Gene Name |
myosin IG |
| Synonyms |
E430002D17Rik |
| MMRRC Submission |
039489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1434 (G1)
|
| Quality Score |
83 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6459372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 833
(Q833K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003459]
[ENSMUST00000144725]
|
| AlphaFold |
Q5SUA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003459
AA Change: Q833K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: Q833K
| 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: 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
|
| Meta Mutation Damage Score |
0.0856 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,348,959 (GRCm39) |
H851N |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,758,212 (GRCm39) |
I969V |
probably benign |
Het |
| Apob |
A |
G |
12: 8,059,715 (GRCm39) |
I2699M |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,980,890 (GRCm39) |
L297Q |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 77,910,041 (GRCm39) |
Y98F |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,190 (GRCm39) |
Y301H |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,905,425 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
T |
A |
8: 3,973,367 (GRCm39) |
I106F |
possibly damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,060 (GRCm39) |
W60R |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,975,822 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,877,532 (GRCm39) |
Q1017L |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,026 (GRCm39) |
V510I |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,847,971 (GRCm39) |
N56I |
probably damaging |
Het |
| Cyb561d2 |
T |
A |
9: 107,418,842 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
T |
3: 89,259,826 (GRCm39) |
T632N |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,287,232 (GRCm39) |
V267I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,852,050 (GRCm39) |
M1736L |
probably benign |
Het |
| Eln |
G |
A |
5: 134,758,291 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,781,193 (GRCm39) |
E493D |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,726,077 (GRCm39) |
D566E |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,085,743 (GRCm39) |
K638R |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,694 (GRCm39) |
G37W |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,820,193 (GRCm39) |
I340V |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,304,520 (GRCm39) |
T671A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,356 (GRCm39) |
M20K |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,502,600 (GRCm39) |
S962F |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,054 (GRCm39) |
S750G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,084,366 (GRCm39) |
C935R |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,776,418 (GRCm39) |
D158G |
possibly damaging |
Het |
| Lman1 |
A |
T |
18: 66,126,144 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,111,407 (GRCm39) |
E709G |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,055,352 (GRCm39) |
H531R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,589,759 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,702,490 (GRCm39) |
E997G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,395,157 (GRCm39) |
W2484R |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,897,430 (GRCm39) |
D740E |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,822,153 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,493,642 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
A |
C |
2: 151,342,666 (GRCm39) |
I79L |
probably benign |
Het |
| Or52b2 |
T |
C |
7: 104,986,468 (GRCm39) |
I152V |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,662 (GRCm39) |
I210M |
probably benign |
Het |
| Or5k1 |
G |
T |
16: 58,617,811 (GRCm39) |
H133N |
probably benign |
Het |
| Osbpl8 |
A |
C |
10: 111,127,442 (GRCm39) |
E842A |
probably benign |
Het |
| Pdxk |
G |
T |
10: 78,276,645 (GRCm39) |
T310K |
probably benign |
Het |
| Phip |
T |
G |
9: 82,841,658 (GRCm39) |
K54Q |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,050,342 (GRCm39) |
D366V |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,848 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,009,783 (GRCm39) |
V618E |
probably damaging |
Het |
| Prdm12 |
A |
T |
2: 31,530,319 (GRCm39) |
Q70L |
possibly damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,596 (GRCm39) |
K91E |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,654,849 (GRCm39) |
M706K |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,422,575 (GRCm39) |
F1606I |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,837,152 (GRCm39) |
|
probably null |
Het |
| Rlbp1 |
C |
A |
7: 79,029,661 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
T |
C |
16: 23,746,193 (GRCm39) |
D166G |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,475,604 (GRCm39) |
F4481V |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,335 (GRCm39) |
D649G |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,950 (GRCm39) |
D655V |
probably damaging |
Het |
| Slco5a1 |
G |
A |
1: 12,942,132 (GRCm39) |
A838V |
probably benign |
Het |
| Spata6l |
G |
T |
19: 28,905,039 (GRCm39) |
|
probably benign |
Het |
| Srprb |
A |
G |
9: 103,067,501 (GRCm39) |
V239A |
probably damaging |
Het |
| Tceanc2 |
T |
C |
4: 107,004,837 (GRCm39) |
T104A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,493 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr19 |
G |
A |
5: 65,380,847 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,306,919 (GRCm39) |
H48Q |
probably benign |
Het |
| Zfp787 |
T |
A |
7: 6,135,234 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp839 |
G |
T |
12: 110,827,333 (GRCm39) |
R408L |
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 |
|
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 |
|
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'- GAAGCATGAACCCTTAGGACAGGAC -3'
(R):5'- GCTACGGACACTGAGTACAAAGGAC -3'
Sequencing Primer
(F):5'- CCCTTAGGACAGGACCAAGAAG -3'
(R):5'- aacagaaacaaaacaaaacaacaac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation