Incidental Mutation 'R4308:Myo1b'
| ID |
324079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
041659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R4308 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51922268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 37
(K37E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
[ENSMUST00000144694]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018561
AA Change: K37E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: K37E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
702 |
N/A |
SMART |
|
IQ
|
703 |
725 |
2.37e-3 |
SMART |
|
IQ
|
726 |
748 |
2.43e0 |
SMART |
|
IQ
|
749 |
771 |
5.24e-5 |
SMART |
|
IQ
|
778 |
800 |
4.59e0 |
SMART |
|
IQ
|
807 |
829 |
7.07e-2 |
SMART |
|
IQ
|
836 |
858 |
3.3e-2 |
SMART |
|
Pfam:Myosin_TH1
|
941 |
1128 |
3e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046390
AA Change: K37E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: K37E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
702 |
N/A |
SMART |
|
IQ
|
703 |
725 |
2.37e-3 |
SMART |
|
IQ
|
726 |
748 |
2.43e0 |
SMART |
|
IQ
|
749 |
771 |
5.24e-5 |
SMART |
|
IQ
|
778 |
800 |
3.68e0 |
SMART |
|
IQ
|
807 |
829 |
3.3e-2 |
SMART |
|
Pfam:Myosin_TH1
|
911 |
1107 |
3.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114537
AA Change: K37E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: K37E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
702 |
N/A |
SMART |
|
IQ
|
703 |
725 |
2.37e-3 |
SMART |
|
IQ
|
726 |
748 |
2.43e0 |
SMART |
|
IQ
|
749 |
771 |
5.24e-5 |
SMART |
|
IQ
|
778 |
800 |
1.6e0 |
SMART |
|
Pfam:Myosin_TH1
|
882 |
1078 |
1.9e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114541
AA Change: K43E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: K43E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
15 |
708 |
N/A |
SMART |
|
IQ
|
709 |
731 |
2.37e-3 |
SMART |
|
IQ
|
732 |
754 |
2.43e0 |
SMART |
|
IQ
|
755 |
777 |
5.24e-5 |
SMART |
|
IQ
|
784 |
806 |
1.6e0 |
SMART |
|
Pfam:Myosin_TH1
|
888 |
1084 |
5.8e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126657
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144694
AA Change: K37E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: K37E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
299 |
4.69e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186817
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,588,311 (GRCm39) |
T4425M |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ascc1 |
T |
G |
10: 59,849,434 (GRCm39) |
H108Q |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,949,156 (GRCm39) |
S2989T |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,041,855 (GRCm39) |
|
probably null |
Het |
| Dars2 |
A |
G |
1: 160,869,291 (GRCm39) |
S653P |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,173,305 (GRCm39) |
K1872N |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,724,617 (GRCm39) |
|
probably benign |
Het |
| Gpr33 |
A |
T |
12: 52,070,423 (GRCm39) |
C205* |
probably null |
Het |
| Gsdmc2 |
A |
G |
15: 63,720,554 (GRCm39) |
|
probably benign |
Het |
| Il31 |
A |
G |
5: 123,618,769 (GRCm39) |
S6P |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 90,072,619 (GRCm39) |
K87R |
probably damaging |
Het |
| Kif15 |
T |
G |
9: 122,843,047 (GRCm39) |
H47Q |
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,158,690 (GRCm39) |
A653T |
unknown |
Het |
| Lamb1 |
T |
C |
12: 31,379,254 (GRCm39) |
L1737P |
probably damaging |
Het |
| Map2k5 |
C |
G |
9: 63,142,586 (GRCm39) |
R353S |
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,931,199 (GRCm39) |
L721I |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,864,811 (GRCm39) |
D1369G |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Obi1 |
T |
A |
14: 104,717,029 (GRCm39) |
N448I |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,614 (GRCm39) |
I77T |
probably damaging |
Het |
| Or14j10 |
C |
T |
17: 37,934,627 (GRCm39) |
V300I |
possibly damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,399,714 (GRCm39) |
D555V |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
| Rwdd2b |
A |
T |
16: 87,233,615 (GRCm39) |
W162R |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,344,396 (GRCm39) |
M19T |
probably benign |
Het |
| Sft2d2 |
A |
G |
1: 165,015,833 (GRCm39) |
I45T |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,341,164 (GRCm39) |
H1371Q |
unknown |
Het |
| Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,619,498 (GRCm39) |
S2244R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,199,820 (GRCm39) |
V4568A |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,268 (GRCm39) |
Y285* |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp983 |
A |
G |
17: 21,881,124 (GRCm39) |
I351V |
probably benign |
Het |
|
| Other mutations in Myo1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Myo1b
|
APN |
1 |
51,803,113 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00943:Myo1b
|
APN |
1 |
51,823,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01537:Myo1b
|
APN |
1 |
51,815,510 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01550:Myo1b
|
APN |
1 |
51,823,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Myo1b
|
APN |
1 |
51,815,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01667:Myo1b
|
APN |
1 |
51,799,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Myo1b
|
APN |
1 |
51,821,179 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01830:Myo1b
|
APN |
1 |
51,836,624 (GRCm39) |
nonsense |
probably null |
|
|
IGL02070:Myo1b
|
APN |
1 |
51,833,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Myo1b
|
APN |
1 |
51,797,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Myo1b
|
APN |
1 |
51,821,133 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02685:Myo1b
|
APN |
1 |
51,817,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Myo1b
|
APN |
1 |
51,840,337 (GRCm39) |
splice site |
probably null |
|
|
IGL02981:Myo1b
|
APN |
1 |
51,817,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Philemon
|
UTSW |
1 |
51,812,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Phyllo
|
UTSW |
1 |
51,815,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347_myo1b_243
|
UTSW |
1 |
51,790,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Myo1b
|
UTSW |
1 |
51,815,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Myo1b
|
UTSW |
1 |
51,815,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Myo1b
|
UTSW |
1 |
51,817,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Myo1b
|
UTSW |
1 |
51,821,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Myo1b
|
UTSW |
1 |
51,821,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Myo1b
|
UTSW |
1 |
51,794,857 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0959:Myo1b
|
UTSW |
1 |
51,836,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Myo1b
|
UTSW |
1 |
51,817,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Myo1b
|
UTSW |
1 |
51,817,717 (GRCm39) |
splice site |
probably benign |
|
|
R1539:Myo1b
|
UTSW |
1 |
51,838,722 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1616:Myo1b
|
UTSW |
1 |
51,815,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Myo1b
|
UTSW |
1 |
51,799,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1888:Myo1b
|
UTSW |
1 |
51,799,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2697:Myo1b
|
UTSW |
1 |
51,902,517 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3034:Myo1b
|
UTSW |
1 |
51,812,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3720:Myo1b
|
UTSW |
1 |
51,815,505 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3896:Myo1b
|
UTSW |
1 |
51,812,420 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4003:Myo1b
|
UTSW |
1 |
51,838,689 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4179:Myo1b
|
UTSW |
1 |
51,817,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4444:Myo1b
|
UTSW |
1 |
51,797,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4679:Myo1b
|
UTSW |
1 |
51,797,132 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4914:Myo1b
|
UTSW |
1 |
51,863,367 (GRCm39) |
splice site |
probably null |
|
|
R5343:Myo1b
|
UTSW |
1 |
51,817,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5530:Myo1b
|
UTSW |
1 |
51,836,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Myo1b
|
UTSW |
1 |
51,836,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Myo1b
|
UTSW |
1 |
51,815,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Myo1b
|
UTSW |
1 |
51,817,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Myo1b
|
UTSW |
1 |
51,807,810 (GRCm39) |
missense |
probably null |
0.36 |
|
R6346:Myo1b
|
UTSW |
1 |
51,823,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6382:Myo1b
|
UTSW |
1 |
51,813,466 (GRCm39) |
splice site |
probably null |
|
|
R6757:Myo1b
|
UTSW |
1 |
51,852,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Myo1b
|
UTSW |
1 |
51,801,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Myo1b
|
UTSW |
1 |
51,797,160 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7192:Myo1b
|
UTSW |
1 |
51,796,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7347:Myo1b
|
UTSW |
1 |
51,790,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Myo1b
|
UTSW |
1 |
51,803,065 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7468:Myo1b
|
UTSW |
1 |
51,836,639 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7503:Myo1b
|
UTSW |
1 |
51,815,761 (GRCm39) |
splice site |
probably null |
|
|
R7586:Myo1b
|
UTSW |
1 |
51,817,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7712:Myo1b
|
UTSW |
1 |
51,832,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Myo1b
|
UTSW |
1 |
51,818,739 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7905:Myo1b
|
UTSW |
1 |
51,803,043 (GRCm39) |
splice site |
probably null |
|
|
R8093:Myo1b
|
UTSW |
1 |
51,797,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8485:Myo1b
|
UTSW |
1 |
51,818,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8705:Myo1b
|
UTSW |
1 |
51,902,495 (GRCm39) |
nonsense |
probably null |
|
|
R8731:Myo1b
|
UTSW |
1 |
51,799,570 (GRCm39) |
splice site |
probably benign |
|
|
R8735:Myo1b
|
UTSW |
1 |
51,794,896 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8859:Myo1b
|
UTSW |
1 |
51,836,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Myo1b
|
UTSW |
1 |
51,821,142 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9416:Myo1b
|
UTSW |
1 |
51,902,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9583:Myo1b
|
UTSW |
1 |
51,796,404 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9713:Myo1b
|
UTSW |
1 |
51,818,766 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0065:Myo1b
|
UTSW |
1 |
51,836,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACACCGCCCTTGTGCTAG -3'
(R):5'- AGAACTCACCTGAAAGTTTTGCTC -3'
Sequencing Primer
(F):5'- AGTGTGACCTCAACCCATGTG -3'
(R):5'- CCTGAAAGTTTTGCTCATAGACCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation