Incidental Mutation 'R7258:Myo1g'
| ID |
564435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1g
|
| Ensembl Gene |
ENSMUSG00000020437 |
| Gene Name |
myosin IG |
| Synonyms |
E430002D17Rik |
| MMRRC Submission |
045386-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7258 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6459416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 818
(I818T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003459]
[ENSMUST00000144725]
|
| AlphaFold |
Q5SUA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003459
AA Change: I818T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: I818T
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
C |
8: 88,312,805 (GRCm39) |
S197R |
probably damaging |
Het |
| Abcc12 |
T |
C |
8: 87,287,486 (GRCm39) |
R120G |
possibly damaging |
Het |
| Abhd14b |
A |
G |
9: 106,327,418 (GRCm39) |
I67V |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,518,115 (GRCm39) |
V62E |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Ccr5 |
A |
T |
9: 123,925,311 (GRCm39) |
K305* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,518 (GRCm39) |
H339R |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,899,648 (GRCm38) |
F91L |
|
Het |
| Cep290 |
T |
G |
10: 100,334,970 (GRCm39) |
M330R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,115,004 (GRCm39) |
Y901C |
probably benign |
Het |
| Ddx54 |
T |
G |
5: 120,758,812 (GRCm39) |
Y352D |
probably damaging |
Het |
| Defa35 |
A |
T |
8: 21,555,245 (GRCm39) |
H55L |
possibly damaging |
Het |
| Dnmt3b |
T |
A |
2: 153,525,519 (GRCm39) |
|
probably null |
Het |
| Enpep |
A |
C |
3: 129,125,724 (GRCm39) |
L136R |
probably benign |
Het |
| Epb41l2 |
G |
A |
10: 25,360,185 (GRCm39) |
A516T |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,305,764 (GRCm39) |
Q13L |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,269,974 (GRCm39) |
D271E |
possibly damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,542 (GRCm39) |
L410H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,871,352 (GRCm39) |
E58G |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,106 (GRCm39) |
V269E |
probably benign |
Het |
| Grm5 |
A |
T |
7: 87,723,914 (GRCm39) |
T735S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,819 (GRCm39) |
M9V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,591,574 (GRCm39) |
I1875T |
probably benign |
Het |
| Hrc |
T |
A |
7: 44,985,720 (GRCm39) |
D290E |
possibly damaging |
Het |
| Iftap |
T |
C |
2: 101,440,937 (GRCm39) |
D22G |
probably null |
Het |
| Ippk |
C |
A |
13: 49,587,338 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,972,711 (GRCm39) |
T391A |
probably damaging |
Het |
| Kdm5b |
A |
C |
1: 134,548,759 (GRCm39) |
E1088A |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,101 (GRCm39) |
A432V |
probably benign |
Het |
| Ly86 |
A |
G |
13: 37,529,473 (GRCm39) |
D20G |
probably benign |
Het |
| Nms |
A |
G |
1: 38,986,051 (GRCm39) |
T121A |
probably benign |
Het |
| Or1e31 |
T |
G |
11: 73,690,206 (GRCm39) |
I126L |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,352 (GRCm39) |
I98K |
probably damaging |
Het |
| Or51af1 |
G |
C |
7: 103,141,796 (GRCm39) |
C96W |
probably damaging |
Het |
| Or6b3 |
A |
T |
1: 92,438,898 (GRCm39) |
I284N |
possibly damaging |
Het |
| Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
| Or8k37 |
T |
A |
2: 86,469,345 (GRCm39) |
K236* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,167 (GRCm39) |
L387P |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,241,305 (GRCm39) |
R95H |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,970,250 (GRCm39) |
D502G |
possibly damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,064,203 (GRCm39) |
D446G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
| Rasal2 |
A |
T |
1: 156,985,270 (GRCm39) |
L826M |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Sin3b |
T |
C |
8: 73,476,836 (GRCm39) |
C757R |
probably benign |
Het |
| Slc41a1 |
T |
A |
1: 131,769,780 (GRCm39) |
V300D |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,789 (GRCm39) |
I40L |
probably benign |
Het |
| Snrpa1 |
T |
C |
7: 65,719,891 (GRCm39) |
F162L |
probably damaging |
Het |
| Sox30 |
C |
A |
11: 45,871,379 (GRCm39) |
A78E |
unknown |
Het |
| Ssc4d |
G |
T |
5: 135,991,941 (GRCm39) |
A401E |
probably damaging |
Het |
| Steap3 |
A |
G |
1: 120,171,716 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stx5a |
A |
G |
19: 8,732,271 (GRCm39) |
|
probably null |
Het |
| Tgfbr2 |
A |
T |
9: 115,958,898 (GRCm39) |
I172N |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,272 (GRCm39) |
S96P |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,973,473 (GRCm39) |
T282P |
probably damaging |
Het |
| Uba5 |
A |
T |
9: 103,940,132 (GRCm39) |
V5E |
unknown |
Het |
| Ugt2b36 |
A |
T |
5: 87,228,762 (GRCm39) |
L427H |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,691 (GRCm39) |
H196Q |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,848 (GRCm39) |
L348F |
probably damaging |
Het |
| Vmn2r93 |
T |
G |
17: 18,525,403 (GRCm39) |
L354V |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,296,034 (GRCm39) |
N1079Y |
unknown |
Het |
| Zfp653 |
T |
C |
9: 21,977,116 (GRCm39) |
D145G |
probably benign |
Het |
| Zfp777 |
T |
C |
6: 48,002,731 (GRCm39) |
E453G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,803 (GRCm39) |
H423Q |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,514,151 (GRCm39) |
Y496N |
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 |
|
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 |
|
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'- ACCCCAGGATGGACAGAATG -3'
(R):5'- TTGGGACCCAAAGGACAGTC -3'
Sequencing Primer
(F):5'- TGGCTGGTAAAACCCATGGC -3'
(R):5'- AGATCTCTGAGTTCAAGGCCAGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation