Incidental Mutation 'R5841:Myo1g'
ID |
450447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1g
|
Ensembl Gene |
ENSMUSG00000020437 |
Gene Name |
myosin IG |
Synonyms |
E430002D17Rik |
MMRRC Submission |
044061-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5841 (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 6457000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 942
(Y942F)
|
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: Y942F
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000003459 Gene: ENSMUSG00000020437 AA Change: Y942F
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (67/67) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
T |
1: 75,150,994 (GRCm39) |
F565L |
possibly damaging |
Het |
Abhd6 |
T |
A |
14: 8,049,596 (GRCm38) |
V188D |
probably benign |
Het |
Bbs12 |
T |
G |
3: 37,373,670 (GRCm39) |
N39K |
probably benign |
Het |
Bend5 |
A |
G |
4: 111,290,667 (GRCm39) |
Y221C |
probably damaging |
Het |
Brd8 |
A |
G |
18: 34,738,576 (GRCm39) |
S683P |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,715,183 (GRCm39) |
D79G |
probably damaging |
Het |
Cdyl |
T |
C |
13: 36,056,544 (GRCm39) |
L509P |
probably damaging |
Het |
Cenpf |
G |
T |
1: 189,389,641 (GRCm39) |
T1397N |
possibly damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,027 (GRCm39) |
M1479K |
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,951,497 (GRCm39) |
S145P |
probably damaging |
Het |
Cyp4a12a |
A |
T |
4: 115,183,899 (GRCm39) |
H235L |
probably benign |
Het |
Cyp7b1 |
A |
T |
3: 18,151,670 (GRCm39) |
F181Y |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,946,253 (GRCm39) |
T453A |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,089,193 (GRCm39) |
D263G |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Dync2li1 |
G |
A |
17: 84,940,990 (GRCm39) |
G69R |
probably damaging |
Het |
Edc3 |
T |
C |
9: 57,651,885 (GRCm39) |
V331A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ganc |
C |
T |
2: 120,242,020 (GRCm39) |
T66I |
possibly damaging |
Het |
Gm11595 |
C |
A |
11: 99,663,143 (GRCm39) |
C179F |
unknown |
Het |
Gnptg |
A |
G |
17: 25,454,391 (GRCm39) |
S159P |
probably damaging |
Het |
Gsdmc2 |
C |
T |
15: 63,698,059 (GRCm39) |
V349I |
probably benign |
Het |
Hydin |
T |
C |
8: 111,259,846 (GRCm39) |
I2606T |
possibly damaging |
Het |
Ino80d |
A |
G |
1: 63,097,999 (GRCm39) |
S632P |
probably damaging |
Het |
Kcnn2 |
G |
A |
18: 45,692,463 (GRCm39) |
R13H |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,667 (GRCm39) |
K666* |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,766 (GRCm39) |
I360V |
possibly damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,182,657 (GRCm39) |
K576E |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,310,497 (GRCm39) |
Y2692F |
probably benign |
Het |
Meis2 |
T |
A |
2: 115,889,145 (GRCm39) |
E202D |
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,224,826 (GRCm39) |
T347S |
probably damaging |
Het |
Mmp12 |
G |
A |
9: 7,347,501 (GRCm39) |
C26Y |
possibly damaging |
Het |
Mrpl24 |
G |
A |
3: 87,830,292 (GRCm39) |
R145Q |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Mycbpap |
T |
A |
11: 94,396,436 (GRCm39) |
R135W |
probably damaging |
Het |
Myrf |
T |
C |
19: 10,200,911 (GRCm39) |
K52R |
probably null |
Het |
Ncf2 |
A |
T |
1: 152,697,269 (GRCm39) |
|
silent |
Het |
Nherf2 |
A |
T |
17: 24,863,851 (GRCm39) |
M8K |
probably benign |
Het |
Or51f1e |
T |
C |
7: 102,747,161 (GRCm39) |
F71S |
probably damaging |
Het |
Otx1 |
T |
C |
11: 21,948,594 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,965,429 (GRCm39) |
V532D |
possibly damaging |
Het |
Pik3r5 |
T |
C |
11: 68,383,096 (GRCm39) |
L305P |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,898 (GRCm39) |
R324* |
probably null |
Het |
Polr3a |
A |
T |
14: 24,500,766 (GRCm39) |
C1341S |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,983 (GRCm39) |
T644A |
probably benign |
Het |
Pramel22 |
A |
G |
4: 143,382,109 (GRCm39) |
S196P |
possibly damaging |
Het |
Ptbp1 |
A |
G |
10: 79,695,766 (GRCm39) |
D289G |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,007,952 (GRCm39) |
F868L |
probably benign |
Het |
Rgs8 |
A |
G |
1: 153,568,574 (GRCm39) |
E153G |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,493,180 (GRCm39) |
|
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,192,271 (GRCm39) |
H78R |
probably damaging |
Het |
Sdr16c6 |
C |
T |
4: 4,062,728 (GRCm39) |
A197T |
possibly damaging |
Het |
Slc36a3 |
A |
T |
11: 55,016,547 (GRCm39) |
Y349* |
probably null |
Het |
Slc38a9 |
T |
C |
13: 112,831,856 (GRCm39) |
L202P |
possibly damaging |
Het |
Slc40a1 |
A |
T |
1: 45,951,509 (GRCm39) |
M216K |
probably damaging |
Het |
Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
Srp54b |
A |
G |
12: 55,299,614 (GRCm39) |
N315S |
probably benign |
Het |
Strc |
A |
G |
2: 121,196,358 (GRCm39) |
F1557L |
probably benign |
Het |
Susd3 |
C |
A |
13: 49,392,202 (GRCm39) |
|
probably benign |
Het |
Usp54 |
G |
A |
14: 20,600,351 (GRCm39) |
T1462I |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,787 (GRCm39) |
N150K |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,231,958 (GRCm39) |
H606Y |
probably benign |
Het |
Zmym6 |
A |
G |
4: 126,994,463 (GRCm39) |
I206V |
possibly 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 |
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 |
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'- TCCCTCTCTGCAACAGGAAG -3'
(R):5'- ACACACTTCCACTGCATGATG -3'
Sequencing Primer
(F):5'- TCTCTGCAACAGGAAGGGCAG -3'
(R):5'- TGGCTGGACACTGGAGC -3'
|
Posted On |
2016-12-20 |