Incidental Mutation 'R4625:Myo1g'
| ID |
346503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1g
|
| Ensembl Gene |
ENSMUSG00000020437 |
| Gene Name |
myosin IG |
| Synonyms |
E430002D17Rik |
| MMRRC Submission |
041890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6462240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 574
(E574G)
|
| 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: E574G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: E574G
| 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
|
| Meta Mutation Damage Score |
0.1660 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (75/77) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
C |
5: 144,981,693 (GRCm39) |
E176A |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,792,178 (GRCm39) |
I320V |
probably benign |
Het |
| Abtb1 |
C |
T |
6: 88,813,269 (GRCm39) |
A466T |
probably benign |
Het |
| Ak6 |
C |
A |
13: 100,792,181 (GRCm39) |
T208K |
probably benign |
Het |
| Albfm1 |
G |
T |
5: 90,719,611 (GRCm39) |
V236L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Anapc15 |
T |
A |
7: 101,550,239 (GRCm39) |
|
probably benign |
Het |
| Anxa2r1 |
G |
T |
13: 120,496,765 (GRCm39) |
R35S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Aspn |
A |
G |
13: 49,710,901 (GRCm39) |
D182G |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,407,864 (GRCm39) |
D607V |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,598,725 (GRCm39) |
I114V |
probably null |
Het |
| Ccdc159 |
A |
G |
9: 21,840,762 (GRCm39) |
S110G |
probably benign |
Het |
| Cdh18 |
A |
C |
15: 22,714,128 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,526 (GRCm39) |
I665T |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,385,901 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,811,412 (GRCm39) |
L1397P |
probably damaging |
Het |
| Chia1 |
A |
C |
3: 106,036,256 (GRCm39) |
N279H |
probably benign |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,651 (GRCm39) |
E227G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,311,404 (GRCm39) |
N1772K |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,354,487 (GRCm39) |
S2244P |
probably damaging |
Het |
| Fshr |
T |
C |
17: 89,293,148 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gm5087 |
T |
C |
14: 13,158,798 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7135 |
A |
C |
1: 97,387,351 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpll |
A |
T |
17: 80,358,291 (GRCm39) |
Y153* |
probably null |
Het |
| Htt |
T |
A |
5: 34,987,129 (GRCm39) |
V1116E |
probably damaging |
Het |
| Ikzf5 |
A |
T |
7: 130,995,482 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
A |
G |
2: 167,030,153 (GRCm39) |
S131P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,970,381 (GRCm39) |
D952E |
probably benign |
Het |
| Klf4 |
A |
G |
4: 55,530,370 (GRCm39) |
V247A |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lamc1 |
A |
G |
1: 153,118,442 (GRCm39) |
S910P |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,516,845 (GRCm39) |
N512K |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,250 (GRCm39) |
V174A |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,913,358 (GRCm39) |
G997R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,958,084 (GRCm39) |
C3748R |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,083 (GRCm39) |
D23G |
probably benign |
Het |
| Or5p69 |
T |
C |
7: 107,966,895 (GRCm39) |
L66P |
probably damaging |
Het |
| Or8g28 |
A |
T |
9: 39,169,614 (GRCm39) |
M118K |
probably damaging |
Het |
| Or9s18 |
T |
A |
13: 65,300,674 (GRCm39) |
V212D |
possibly damaging |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,670,978 (GRCm39) |
T851A |
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,678,056 (GRCm39) |
Q668R |
probably benign |
Het |
| Rfwd3 |
T |
C |
8: 112,002,990 (GRCm39) |
T611A |
probably benign |
Het |
| Rhcg |
T |
A |
7: 79,251,352 (GRCm39) |
D219V |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Slc25a26 |
G |
T |
6: 94,484,633 (GRCm39) |
V58F |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 81,437,192 (GRCm39) |
K721N |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,655,642 (GRCm39) |
Y61* |
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,524 (GRCm39) |
Y961C |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,634,100 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
G |
4: 58,072,698 (GRCm39) |
N2204H |
probably damaging |
Het |
| Tex56 |
G |
A |
13: 35,116,448 (GRCm39) |
G66S |
probably damaging |
Het |
| Tmem86a |
C |
A |
7: 46,702,613 (GRCm39) |
P13T |
probably damaging |
Het |
| Tmt1a |
A |
T |
15: 100,210,939 (GRCm39) |
Q170L |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Tox2 |
G |
A |
2: 163,156,336 (GRCm39) |
S211N |
possibly damaging |
Het |
| Trpc6 |
A |
T |
9: 8,677,963 (GRCm39) |
E762D |
probably benign |
Het |
| Tshb |
C |
T |
3: 102,685,461 (GRCm39) |
|
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,189,131 (GRCm39) |
L163* |
probably null |
Het |
| Twsg1 |
G |
T |
17: 66,236,546 (GRCm39) |
D161E |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,143,080 (GRCm39) |
D187A |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,268,443 (GRCm39) |
W9R |
probably benign |
Het |
| Yju2 |
T |
A |
17: 56,271,598 (GRCm39) |
L173Q |
probably damaging |
Het |
| Zfp14 |
G |
A |
7: 29,738,020 (GRCm39) |
Q322* |
probably null |
Het |
| Znhit3 |
G |
A |
11: 84,802,316 (GRCm39) |
P145S |
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 |
|
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 |
|
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'- AAGTCTGCCATTGCTCTGTC -3'
(R):5'- AGGGCCAGGATTAGACTCTTC -3'
Sequencing Primer
(F):5'- ATTGCTCTGTCGCCAGCAG -3'
(R):5'- CAGGATTAGACTCTTCAGGGACTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation