Incidental Mutation 'R0040:Myo1b'
ID |
216028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1b
|
Ensembl Gene |
ENSMUSG00000018417 |
Gene Name |
myosin IB |
Synonyms |
|
MMRRC Submission |
038334-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.691)
|
Stock # |
R0040 (G1)
|
Quality Score |
56 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51821148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 451
(I451N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
AlphaFold |
P46735 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: I445N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000018561 Gene: ENSMUSG00000018417 AA Change: I445N
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 damaging
Transcript: ENSMUST00000046390
AA Change: I445N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040447 Gene: ENSMUSG00000018417 AA Change: I445N
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 damaging
Transcript: ENSMUST00000114537
AA Change: I445N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110184 Gene: ENSMUSG00000018417 AA Change: I445N
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 damaging
Transcript: ENSMUST00000114541
AA Change: I451N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110188 Gene: ENSMUSG00000018417 AA Change: I451N
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: ENSMUST00000126952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136701
|
Meta Mutation Damage Score |
0.9470 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.6%
|
Validation Efficiency |
100% (88/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,988,840 (GRCm39) |
T666A |
probably benign |
Het |
Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,812,901 (GRCm39) |
Q1344L |
probably benign |
Het |
Cyb5r4 |
A |
G |
9: 86,948,795 (GRCm39) |
|
probably null |
Het |
Cyp2b9 |
G |
T |
7: 25,872,899 (GRCm39) |
S14I |
possibly damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,691,371 (GRCm39) |
T671A |
probably damaging |
Het |
Fbxo28 |
G |
T |
1: 182,153,805 (GRCm39) |
|
probably benign |
Het |
Fbxo44 |
A |
G |
4: 148,243,152 (GRCm39) |
L89P |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
Gm9955 |
G |
T |
18: 24,842,209 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
T |
C |
19: 58,788,056 (GRCm39) |
T589A |
probably benign |
Het |
Idh2 |
A |
G |
7: 79,747,570 (GRCm39) |
S317P |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,667,457 (GRCm39) |
V330A |
probably benign |
Het |
Kpna1 |
T |
A |
16: 35,843,611 (GRCm39) |
D328E |
probably damaging |
Het |
Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
Lrrc37 |
G |
A |
11: 103,433,816 (GRCm39) |
P942S |
probably damaging |
Het |
Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
Med1 |
C |
T |
11: 98,057,081 (GRCm39) |
|
probably null |
Het |
Mif |
T |
A |
10: 75,695,614 (GRCm39) |
H63L |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
Nme2 |
A |
T |
11: 93,842,756 (GRCm39) |
|
probably null |
Het |
Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
Nup210l |
T |
A |
3: 90,089,212 (GRCm39) |
V1165D |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,841,241 (GRCm39) |
T122S |
probably damaging |
Het |
Or14a258 |
A |
T |
7: 86,035,715 (GRCm39) |
L51Q |
probably benign |
Het |
Or1n2 |
T |
C |
2: 36,797,470 (GRCm39) |
F171L |
probably damaging |
Het |
Or5j1 |
C |
T |
2: 86,879,548 (GRCm39) |
E11K |
probably damaging |
Het |
Or6c202 |
T |
A |
10: 128,996,608 (GRCm39) |
I82L |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,661,665 (GRCm39) |
D536G |
probably damaging |
Het |
Phrf1 |
G |
T |
7: 140,823,770 (GRCm39) |
R196L |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
Rbm39 |
G |
A |
2: 155,990,099 (GRCm39) |
T496I |
possibly damaging |
Het |
Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
Rtf2 |
G |
A |
2: 172,286,616 (GRCm39) |
S40N |
probably damaging |
Het |
Runx2 |
G |
A |
17: 44,919,141 (GRCm39) |
S481L |
possibly damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
Siglec15 |
G |
A |
18: 78,092,092 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
Vmn1r28 |
T |
C |
6: 58,242,879 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,816,346 (GRCm39) |
V59D |
probably benign |
Het |
Wdpcp |
A |
G |
11: 21,661,638 (GRCm39) |
I303M |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
Zfp334 |
A |
G |
2: 165,223,492 (GRCm39) |
Y184H |
probably benign |
Het |
Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
Zkscan3 |
A |
T |
13: 21,579,090 (GRCm39) |
|
probably null |
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 |
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 |
R4308:Myo1b
|
UTSW |
1 |
51,922,268 (GRCm39) |
missense |
probably benign |
0.01 |
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'- CCTAAAAGGGCTGTGACAGGGTAAC -3'
(R):5'- TTGGCTTAGAGCCCATGAAGTGC -3'
Sequencing Primer
(F):5'- AATAAAAGCTGTCCATGCCTTC -3'
(R):5'- AATTGCTTCAGTCGGTTCATGTC -3'
|
Posted On |
2014-07-17 |