Incidental Mutation 'R9103:Myo1g'
| ID |
691828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1g
|
| Ensembl Gene |
ENSMUSG00000020437 |
| Gene Name |
myosin IG |
| Synonyms |
E430002D17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9103 (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 6466153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 339
(S339P)
|
| 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: S339P
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: S339P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,558 (GRCm39) |
C458* |
probably null |
Het |
| Adgra2 |
G |
A |
8: 27,603,436 (GRCm39) |
G407D |
probably damaging |
Het |
| Aox4 |
G |
A |
1: 58,296,441 (GRCm39) |
G1046E |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,251,540 (GRCm39) |
Y63H |
probably damaging |
Het |
| Ascl3 |
A |
T |
7: 109,327,127 (GRCm39) |
M64K |
probably benign |
Het |
| Cacna2d3 |
G |
A |
14: 29,068,971 (GRCm39) |
T252I |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,091,732 (GRCm39) |
T710A |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,295,836 (GRCm39) |
C393R |
probably benign |
Het |
| Chd5 |
A |
C |
4: 152,461,444 (GRCm39) |
E1215A |
possibly damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,094 (GRCm39) |
N449S |
probably benign |
Het |
| Cpz |
G |
A |
5: 35,675,054 (GRCm39) |
S65L |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,727,625 (GRCm39) |
N118I |
possibly damaging |
Het |
| Ddx25 |
A |
T |
9: 35,458,085 (GRCm39) |
F345I |
probably benign |
Het |
| Dennd2d |
T |
C |
3: 106,397,684 (GRCm39) |
Y161H |
|
Het |
| Egfl8 |
C |
T |
17: 34,833,210 (GRCm39) |
D179N |
probably benign |
Het |
| Eif2a |
A |
G |
3: 58,452,461 (GRCm39) |
N174S |
|
Het |
| Farp1 |
C |
T |
14: 121,509,104 (GRCm39) |
H643Y |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,404,850 (GRCm39) |
V534L |
probably benign |
Het |
| Fbxo48 |
A |
G |
11: 16,903,556 (GRCm39) |
T61A |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,608,187 (GRCm39) |
T970A |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,763 (GRCm39) |
D212E |
possibly damaging |
Het |
| Fstl4 |
C |
A |
11: 52,664,696 (GRCm39) |
H9N |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,673,232 (GRCm39) |
D622G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,425,489 (GRCm39) |
H223L |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,771,179 (GRCm39) |
V531A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,498,622 (GRCm39) |
D42G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hsd17b6 |
A |
G |
10: 127,833,876 (GRCm39) |
W2R |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,715,349 (GRCm39) |
|
probably null |
Het |
| Igtp |
A |
G |
11: 58,097,726 (GRCm39) |
E299G |
|
Het |
| Klhl28 |
T |
C |
12: 64,990,300 (GRCm39) |
D547G |
possibly damaging |
Het |
| Leng8 |
G |
C |
7: 4,146,897 (GRCm39) |
R473P |
probably damaging |
Het |
| Lin37 |
T |
A |
7: 30,257,055 (GRCm39) |
N53Y |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,430,979 (GRCm39) |
Q357* |
probably null |
Het |
| Lrrfip2 |
A |
T |
9: 111,034,840 (GRCm39) |
K176N |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,028,186 (GRCm39) |
S390P |
unknown |
Het |
| Map3k2 |
G |
A |
18: 32,353,625 (GRCm39) |
R465H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,350,517 (GRCm39) |
V665E |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,989,451 (GRCm39) |
I1524F |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,450,332 (GRCm39) |
K506R |
probably damaging |
Het |
| Nudt21 |
A |
G |
8: 94,746,321 (GRCm39) |
I225T |
probably benign |
Het |
| Or4c31 |
A |
G |
2: 88,291,942 (GRCm39) |
K105R |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,780 (GRCm39) |
L74Q |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,527 (GRCm39) |
Y259* |
probably null |
Het |
| Or8b3 |
A |
G |
9: 38,314,518 (GRCm39) |
Y116C |
probably damaging |
Het |
| Or8c18 |
A |
T |
9: 38,203,969 (GRCm39) |
I243F |
probably damaging |
Het |
| Pax2 |
C |
T |
19: 44,806,968 (GRCm39) |
T299I |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,749,044 (GRCm39) |
S99N |
probably damaging |
Het |
| Pdlim5 |
T |
A |
3: 142,010,174 (GRCm39) |
H147L |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,487,381 (GRCm39) |
Y343F |
probably damaging |
Het |
| Phf10 |
A |
G |
17: 15,174,382 (GRCm39) |
I232T |
probably damaging |
Het |
| Plcb3 |
C |
T |
19: 6,936,288 (GRCm39) |
G745D |
probably benign |
Het |
| Pramel11 |
G |
A |
4: 143,624,381 (GRCm39) |
L39F |
probably damaging |
Het |
| Recql |
C |
A |
6: 142,322,515 (GRCm39) |
C129F |
possibly damaging |
Het |
| Rrp1 |
C |
T |
10: 78,240,876 (GRCm39) |
D288N |
unknown |
Het |
| Samd4 |
T |
C |
14: 47,254,066 (GRCm39) |
Y177H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,785,525 (GRCm39) |
M198K |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,155,964 (GRCm39) |
I334M |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,705,268 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc2a4 |
T |
A |
11: 69,836,218 (GRCm39) |
K264N |
probably benign |
Het |
| Slc8b1 |
A |
T |
5: 120,670,939 (GRCm39) |
I476F |
probably benign |
Het |
| Smcp |
T |
C |
3: 92,491,838 (GRCm39) |
D3G |
unknown |
Het |
| Tagap |
A |
T |
17: 8,152,335 (GRCm39) |
M507L |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,780 (GRCm39) |
E263G |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Top3a |
T |
G |
11: 60,654,253 (GRCm39) |
|
probably null |
Het |
| Ube2q2l |
T |
A |
6: 136,378,011 (GRCm39) |
D273V |
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,073 (GRCm39) |
V264A |
unknown |
Het |
| Vti1a |
A |
C |
19: 55,316,865 (GRCm39) |
M81L |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,674,245 (GRCm39) |
|
probably null |
Het |
| Zfp595 |
T |
C |
13: 67,464,676 (GRCm39) |
E532G |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,584,167 (GRCm39) |
V539D |
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 |
|
|
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 |
|
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'- AGTATCCTTGCCATCACACC -3'
(R):5'- ACGGACTCTTCATCACCAGG -3'
Sequencing Primer
(F):5'- TCAAACAGTCGCTGGTACATC -3'
(R):5'- TCTTCATCACCAGGGAAACATCGAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation