Incidental Mutation 'R5191:Myo1g'
| ID |
398174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1g
|
| Ensembl Gene |
ENSMUSG00000020437 |
| Gene Name |
myosin IG |
| Synonyms |
E430002D17Rik |
| MMRRC Submission |
043263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5191 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6456548-6470960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6465105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 447
(A447T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003459]
[ENSMUST00000134489]
[ENSMUST00000144725]
[ENSMUST00000146536]
|
| AlphaFold |
Q5SUA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003459
AA Change: A447T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: A447T
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156878
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (69/69) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
G |
15: 101,034,946 (GRCm39) |
E235G |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,973,028 (GRCm39) |
D658G |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,327,843 (GRCm39) |
R1407G |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,659,306 (GRCm39) |
S107P |
probably benign |
Het |
| Aknad1 |
G |
A |
3: 108,659,867 (GRCm39) |
V294I |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,718,431 (GRCm39) |
T1407A |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,867,929 (GRCm39) |
P318S |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,503,983 (GRCm39) |
V494M |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,719 (GRCm39) |
|
probably null |
Het |
| Crh |
T |
C |
3: 19,748,093 (GRCm39) |
E183G |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,791,035 (GRCm39) |
N265K |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,042,955 (GRCm39) |
A862T |
probably benign |
Het |
| Dact3 |
T |
G |
7: 16,609,375 (GRCm39) |
V9G |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,579,323 (GRCm39) |
I638N |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,965,739 (GRCm39) |
E2357G |
probably damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,344,810 (GRCm39) |
S38I |
probably damaging |
Het |
| Fyb2 |
G |
T |
4: 104,852,994 (GRCm39) |
C558F |
possibly damaging |
Het |
| Galnt3 |
T |
C |
2: 65,924,050 (GRCm39) |
E406G |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,332,173 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
A |
11: 97,228,975 (GRCm39) |
Q1060L |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,647,024 (GRCm39) |
I153F |
probably benign |
Het |
| Hnrnpc |
A |
T |
14: 52,314,964 (GRCm39) |
V141E |
probably damaging |
Het |
| Kcnj2 |
C |
T |
11: 110,963,297 (GRCm39) |
Q230* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,184,904 (GRCm39) |
L631P |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,630,829 (GRCm39) |
N23S |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,755 (GRCm39) |
S1104P |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,088 (GRCm39) |
D73G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,963,942 (GRCm39) |
F454L |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,466 (GRCm39) |
I90L |
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,668 (GRCm39) |
E304G |
probably damaging |
Het |
| Mst1r |
G |
A |
9: 107,788,750 (GRCm39) |
R423H |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,412,276 (GRCm39) |
T1741A |
unknown |
Het |
| Nr1h2 |
C |
A |
7: 44,199,840 (GRCm39) |
A360S |
probably damaging |
Het |
| Nufip1 |
A |
G |
14: 76,349,429 (GRCm39) |
K154E |
probably damaging |
Het |
| Or12k8 |
T |
G |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
| Or2a54 |
T |
A |
6: 43,092,800 (GRCm39) |
N41K |
probably damaging |
Het |
| Or7e166 |
G |
A |
9: 19,624,630 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,365 (GRCm39) |
E3551G |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,387,945 (GRCm39) |
Q114* |
probably null |
Het |
| Sec31a |
T |
C |
5: 100,553,370 (GRCm39) |
E112G |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc9a2 |
G |
T |
1: 40,783,053 (GRCm39) |
R439L |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,659,608 (GRCm39) |
E1097D |
probably benign |
Het |
| Stk38 |
A |
C |
17: 29,193,344 (GRCm39) |
C362G |
probably benign |
Het |
| Stmn2 |
A |
T |
3: 8,610,635 (GRCm39) |
M40L |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,024,860 (GRCm39) |
T283S |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,775,954 (GRCm39) |
S48G |
probably damaging |
Het |
| Tlr4 |
A |
T |
4: 66,759,616 (GRCm39) |
H803L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,709,432 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
G |
T |
9: 21,018,793 (GRCm39) |
Q1099K |
probably damaging |
Het |
| Usp30 |
C |
T |
5: 114,203,755 (GRCm39) |
|
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,447 (GRCm39) |
V60A |
possibly damaging |
Het |
| Zc3h12d |
C |
A |
10: 7,743,582 (GRCm39) |
P451T |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,612 (GRCm39) |
S146G |
probably benign |
Het |
| Zfp236 |
T |
A |
18: 82,639,548 (GRCm39) |
N1233I |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,119,022 (GRCm39) |
V174A |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,939 (GRCm39) |
S397N |
probably benign |
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 |
|
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'- TTCCACAATGGTAGCGTTGTTG -3'
(R):5'- TAGAAGAGAGGCAGCTGTCC -3'
Sequencing Primer
(F):5'- CCACAATGGTAGCGTTGTTGAAGTAC -3'
(R):5'- GAGAGGCAGCTGTCCATCACTAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation