Incidental Mutation 'R1888:Myo1b'
ID |
211850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1b
|
Ensembl Gene |
ENSMUSG00000018417 |
Gene Name |
myosin IB |
Synonyms |
|
MMRRC Submission |
039909-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.691)
|
Stock # |
R1888 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 51799562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
AlphaFold |
P46735 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018561
|
SMART Domains |
Protein: ENSMUSP00000018561 Gene: ENSMUSG00000018417
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 null
Transcript: ENSMUST00000046390
|
SMART Domains |
Protein: ENSMUSP00000040447 Gene: ENSMUSG00000018417
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 null
Transcript: ENSMUST00000114537
|
SMART Domains |
Protein: ENSMUSP00000110184 Gene: ENSMUSG00000018417
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 null
Transcript: ENSMUST00000114541
|
SMART Domains |
Protein: ENSMUSP00000110188 Gene: ENSMUSG00000018417
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: ENSMUST00000140731
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145367
|
Meta Mutation Damage Score |
0.9472 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,960,030 (GRCm39) |
M80T |
unknown |
Het |
4930578I06Rik |
A |
G |
14: 64,223,632 (GRCm39) |
L48P |
probably damaging |
Het |
Abcc9 |
A |
G |
6: 142,625,040 (GRCm39) |
S452P |
probably benign |
Het |
Adgrb2 |
T |
C |
4: 129,907,419 (GRCm39) |
F977S |
probably damaging |
Het |
Adgrf5 |
T |
G |
17: 43,737,896 (GRCm39) |
|
probably null |
Het |
Adgrl4 |
A |
G |
3: 151,144,914 (GRCm39) |
N21S |
probably benign |
Het |
Adss2 |
A |
T |
1: 177,612,517 (GRCm39) |
Y77* |
probably null |
Het |
Ahnak |
A |
T |
19: 8,984,452 (GRCm39) |
D1912V |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,740,325 (GRCm39) |
M1249T |
possibly damaging |
Het |
Akap6 |
A |
T |
12: 53,188,958 (GRCm39) |
D2124V |
possibly damaging |
Het |
Bbs12 |
C |
A |
3: 37,374,712 (GRCm39) |
L387I |
probably damaging |
Het |
Ciita |
T |
C |
16: 10,328,948 (GRCm39) |
Y411H |
probably damaging |
Het |
Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
Clec9a |
G |
A |
6: 129,387,249 (GRCm39) |
V35I |
probably benign |
Het |
Cntn5 |
T |
A |
9: 9,984,082 (GRCm39) |
Q382L |
possibly damaging |
Het |
Cracdl |
T |
C |
1: 37,663,364 (GRCm39) |
K845E |
possibly damaging |
Het |
Dock2 |
A |
T |
11: 34,598,169 (GRCm39) |
I334N |
probably damaging |
Het |
Dock9 |
G |
T |
14: 121,862,617 (GRCm39) |
T833K |
probably benign |
Het |
Drd2 |
G |
A |
9: 49,313,442 (GRCm39) |
V204I |
probably benign |
Het |
Fam120a |
A |
T |
13: 49,039,342 (GRCm39) |
I938N |
possibly damaging |
Het |
Fndc1 |
T |
C |
17: 7,990,621 (GRCm39) |
E1025G |
unknown |
Het |
Fsip2 |
G |
A |
2: 82,774,504 (GRCm39) |
D64N |
probably benign |
Het |
Gm14496 |
T |
A |
2: 181,641,989 (GRCm39) |
C553* |
probably null |
Het |
Gm6020 |
C |
T |
19: 61,172,391 (GRCm39) |
H22Y |
possibly damaging |
Het |
Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
Hmcn1 |
C |
G |
1: 150,695,251 (GRCm39) |
A218P |
possibly damaging |
Het |
Hpgds |
A |
G |
6: 65,115,217 (GRCm39) |
F22S |
probably damaging |
Het |
Il5ra |
T |
A |
6: 106,708,874 (GRCm39) |
N289Y |
probably damaging |
Het |
Irf2 |
A |
T |
8: 47,260,388 (GRCm39) |
R107* |
probably null |
Het |
Kcnk6 |
T |
C |
7: 28,925,075 (GRCm39) |
I180M |
probably benign |
Het |
Krtap5-3 |
G |
A |
7: 141,755,979 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
C |
T |
6: 94,631,859 (GRCm39) |
A114T |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,389,587 (GRCm39) |
V1946A |
probably benign |
Het |
Lrrc8b |
T |
C |
5: 105,629,217 (GRCm39) |
V521A |
probably benign |
Het |
Macf1 |
T |
G |
4: 123,348,835 (GRCm39) |
I2154L |
possibly damaging |
Het |
Macf1 |
C |
A |
4: 123,368,505 (GRCm39) |
E2085D |
probably benign |
Het |
Maml1 |
C |
T |
11: 50,157,468 (GRCm39) |
A236T |
probably benign |
Het |
Mdc1 |
C |
A |
17: 36,165,117 (GRCm39) |
T1481K |
probably benign |
Het |
Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
Mfap3l |
T |
C |
8: 61,124,424 (GRCm39) |
V222A |
possibly damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,196,102 (GRCm39) |
I554T |
probably benign |
Het |
Mpped2 |
T |
C |
2: 106,529,790 (GRCm39) |
I13T |
probably benign |
Het |
Mthfd1l |
C |
A |
10: 4,056,528 (GRCm39) |
T948K |
probably damaging |
Het |
Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
Mtx3 |
A |
G |
13: 92,984,191 (GRCm39) |
E156G |
probably benign |
Het |
Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
Myh2 |
G |
A |
11: 67,071,676 (GRCm39) |
V498M |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,777,899 (GRCm39) |
G1049S |
probably damaging |
Het |
Ndufa2 |
T |
A |
18: 36,877,573 (GRCm39) |
|
probably benign |
Het |
Nipal2 |
T |
C |
15: 34,625,167 (GRCm39) |
I129M |
possibly damaging |
Het |
Nt5dc3 |
A |
G |
10: 86,669,926 (GRCm39) |
N507S |
possibly damaging |
Het |
Or4b12 |
A |
G |
2: 90,095,913 (GRCm39) |
L287P |
probably damaging |
Het |
Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
Pcdhb17 |
G |
A |
18: 37,620,438 (GRCm39) |
|
probably null |
Het |
Pcyt2 |
A |
G |
11: 120,508,677 (GRCm39) |
M1T |
probably null |
Het |
Pla2g2d |
T |
C |
4: 138,503,126 (GRCm39) |
M1T |
probably null |
Het |
Plekhg6 |
T |
C |
6: 125,340,306 (GRCm39) |
T685A |
probably damaging |
Het |
Pramel19 |
T |
A |
4: 101,798,335 (GRCm39) |
V102E |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Pxk |
T |
C |
14: 8,151,540 (GRCm38) |
S452P |
probably damaging |
Het |
Rab42 |
A |
T |
4: 132,030,529 (GRCm39) |
D40E |
probably benign |
Het |
Rapgef6 |
A |
C |
11: 54,551,654 (GRCm39) |
T836P |
probably damaging |
Het |
Serpina3a |
A |
G |
12: 104,082,362 (GRCm39) |
D45G |
probably benign |
Het |
Sntb1 |
T |
A |
15: 55,612,745 (GRCm39) |
R278* |
probably null |
Het |
Spice1 |
T |
G |
16: 44,185,989 (GRCm39) |
S111A |
probably damaging |
Het |
Stk40 |
T |
A |
4: 126,019,538 (GRCm39) |
L90Q |
probably damaging |
Het |
Syk |
A |
G |
13: 52,794,826 (GRCm39) |
Y520C |
probably damaging |
Het |
Syngr2 |
G |
A |
11: 117,704,224 (GRCm39) |
V170M |
possibly damaging |
Het |
Tcf12 |
A |
T |
9: 71,765,816 (GRCm39) |
D541E |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tlr4 |
T |
C |
4: 66,759,409 (GRCm39) |
V734A |
probably damaging |
Het |
Tmem132a |
T |
C |
19: 10,840,863 (GRCm39) |
E389G |
probably damaging |
Het |
Tmem150b |
A |
G |
7: 4,712,044 (GRCm39) |
I112T |
probably benign |
Het |
Tril |
A |
G |
6: 53,796,577 (GRCm39) |
L215P |
probably damaging |
Het |
Trim24 |
G |
T |
6: 37,934,013 (GRCm39) |
R652L |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,623,151 (GRCm39) |
P15429S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,706,302 (GRCm39) |
|
probably benign |
Het |
Tubgcp2 |
A |
G |
7: 139,579,183 (GRCm39) |
V701A |
probably damaging |
Het |
Tubgcp2 |
A |
G |
7: 139,586,069 (GRCm39) |
F407L |
probably damaging |
Het |
Vmn1r30 |
A |
C |
6: 58,412,475 (GRCm39) |
L119R |
possibly damaging |
Het |
Washc5 |
A |
C |
15: 59,231,174 (GRCm39) |
L363R |
probably damaging |
Het |
Zan |
T |
C |
5: 137,387,590 (GRCm39) |
T4874A |
unknown |
Het |
Zfp420 |
A |
T |
7: 29,573,933 (GRCm39) |
H51L |
probably damaging |
Het |
Zfp512b |
C |
A |
2: 181,230,235 (GRCm39) |
R497L |
probably damaging |
Het |
Zmat4 |
A |
G |
8: 24,505,177 (GRCm39) |
N139S |
probably damaging |
Het |
Zng1 |
A |
T |
19: 24,932,769 (GRCm39) |
V88D |
probably damaging |
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 |
|
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'- CTCCATTAGAAAAGATGCAGCC -3'
(R):5'- CACTCAGGCTCCGTTATATTTTGAG -3'
Sequencing Primer
(F):5'- TGCAGCCATATTTGAGAAAATGG -3'
(R):5'- CAGGCTCCGTTATATTTTGAGGAATC -3'
|
Posted On |
2014-06-30 |