Incidental Mutation 'R8910:Myo1g'
| ID |
678565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1g
|
| Ensembl Gene |
ENSMUSG00000020437 |
| Gene Name |
myosin IG |
| Synonyms |
E430002D17Rik |
| MMRRC Submission |
068701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6468009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 142
(N142S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003459]
[ENSMUST00000134489]
[ENSMUST00000144725]
[ENSMUST00000146536]
|
| AlphaFold |
Q5SUA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003459
AA Change: N142S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: N142S
| 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: ENSMUST00000134489
|
| SMART Domains |
Protein: ENSMUSP00000122356
Gene: ENSMUSG00000020437
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_head
|
51 |
99 |
5.9e-15 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146536
|
| SMART Domains |
Protein: ENSMUSP00000122438
Gene: ENSMUSG00000020437
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MYSc
|
9 |
38 |
2e-13 |
BLAST |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,768 (GRCm39) |
I1058V |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,189,030 (GRCm39) |
E809G |
probably damaging |
Het |
| Akap12 |
A |
T |
10: 4,263,822 (GRCm39) |
Q77L |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,102,599 (GRCm39) |
V288A |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,389,510 (GRCm39) |
E586* |
probably null |
Het |
| Anxa2r1 |
T |
A |
13: 120,508,356 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,934,108 (GRCm39) |
F598S |
|
Het |
| Btc |
A |
C |
5: 91,508,671 (GRCm39) |
M157R |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,223 (GRCm39) |
N908S |
probably benign |
Het |
| Cd244a |
C |
A |
1: 171,386,941 (GRCm39) |
H17N |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,575,240 (GRCm39) |
L5P |
probably benign |
Het |
| Cep15 |
A |
G |
14: 12,285,444 (GRCm38) |
H10R |
probably benign |
Het |
| Cept1 |
A |
C |
3: 106,446,565 (GRCm39) |
S94A |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,632,497 (GRCm39) |
M507T |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,799,706 (GRCm39) |
|
probably benign |
Het |
| Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,815 (GRCm39) |
T712I |
probably damaging |
Het |
| Dnhd1 |
A |
C |
7: 105,332,904 (GRCm39) |
H155P |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,167 (GRCm39) |
K38R |
probably benign |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,023,299 (GRCm39) |
L47P |
probably damaging |
Het |
| Fabp6 |
C |
T |
11: 43,492,335 (GRCm39) |
A2T |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,681 (GRCm39) |
T143M |
probably damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,844 (GRCm39) |
G831D |
probably benign |
Het |
| Fermt2 |
G |
A |
14: 45,702,389 (GRCm39) |
A465V |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,715,855 (GRCm39) |
S358P |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,868,694 (GRCm39) |
G1429V |
probably benign |
Het |
| Fst |
T |
A |
13: 114,590,245 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
T |
C |
6: 87,030,787 (GRCm39) |
I57T |
probably benign |
Het |
| Gimap6 |
A |
G |
6: 48,679,388 (GRCm39) |
I216T |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,511 (GRCm39) |
N73I |
possibly damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,413 (GRCm39) |
T286I |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,369,202 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
C |
6: 129,993,647 (GRCm39) |
E208G |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,213 (GRCm39) |
T753S |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,620,526 (GRCm39) |
E13G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,960,855 (GRCm39) |
I806V |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,464,280 (GRCm39) |
T1112A |
probably benign |
Het |
| Or4b1b |
C |
A |
2: 90,126,848 (GRCm39) |
R119L |
possibly damaging |
Het |
| Pelp1 |
A |
T |
11: 70,287,461 (GRCm39) |
M449K |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,768 (GRCm39) |
V795A |
probably damaging |
Het |
| Ppp4r3b |
G |
T |
11: 29,146,290 (GRCm39) |
M372I |
probably null |
Het |
| Ptprk |
T |
C |
10: 28,368,993 (GRCm39) |
V655A |
possibly damaging |
Het |
| Rad51d |
T |
C |
11: 82,773,793 (GRCm39) |
R166G |
probably damaging |
Het |
| Rbm19 |
T |
A |
5: 120,271,844 (GRCm39) |
Y650N |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,741 (GRCm39) |
K204E |
|
Het |
| Ryr1 |
A |
G |
7: 28,771,340 (GRCm39) |
L2567P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,338,883 (GRCm39) |
S599C |
probably damaging |
Het |
| Slc7a15 |
T |
A |
12: 8,589,117 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,182,716 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,806,938 (GRCm39) |
T200A |
probably benign |
Het |
| Tex21 |
C |
T |
12: 76,263,533 (GRCm39) |
|
probably benign |
Het |
| Thap4 |
T |
C |
1: 93,642,666 (GRCm39) |
H515R |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,252 (GRCm39) |
Q1237R |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,151,401 (GRCm39) |
E695G |
possibly damaging |
Het |
| Wtip |
G |
A |
7: 33,832,063 (GRCm39) |
P141L |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,627,741 (GRCm39) |
M718K |
possibly damaging |
Het |
| Zbtb25 |
A |
C |
12: 76,395,908 (GRCm39) |
V438G |
probably damaging |
Het |
| Zfp444 |
T |
C |
7: 6,187,026 (GRCm39) |
L46P |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,233 (GRCm39) |
H1060R |
probably benign |
Het |
| Zkscan14 |
A |
G |
5: 145,132,190 (GRCm39) |
F447S |
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 |
|
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 |
|
|
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'- AAATCAGTGTGCTCCCAGTCC -3'
(R):5'- GTAGCGAAAGATCTACTGCAAAAC -3'
Sequencing Primer
(F):5'- AAGGGTCTCCGCAGCCAAG -3'
(R):5'- TGCAAAACAGATGGGTCATGG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation