Incidental Mutation 'R5636:Myo1b'
| ID |
440343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51749765-51916071 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51797528 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 264
(M264T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
[ENSMUST00000144694]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: M258T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: M258T
| 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: M258T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: M258T
| 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: M258T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: M258T
| 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: M264T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: M264T
| 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: ENSMUST00000135125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136701
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144694
AA Change: M258T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: M258T
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
299 |
4.69e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,944,982 (GRCm38) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,301,536 (GRCm38) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,672,056 (GRCm38) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,869,025 (GRCm38) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,428,309 (GRCm38) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,704,372 (GRCm38) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 75,037,933 (GRCm38) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,288,219 (GRCm38) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,886,385 (GRCm38) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,388,825 (GRCm38) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,602,723 (GRCm38) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,014,442 (GRCm38) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,033,742 (GRCm38) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,438,306 (GRCm38) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 17,948,585 (GRCm38) |
R41C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,282,481 (GRCm38) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,511,018 (GRCm38) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,956,686 (GRCm38) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,722,058 (GRCm38) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,130,945 (GRCm38) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,163,456 (GRCm38) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,201,301 (GRCm38) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,987,078 (GRCm38) |
D644G |
probably benign |
Het |
| Lrrc6 |
A |
T |
15: 66,500,816 (GRCm38) |
|
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm38) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,901,240 (GRCm38) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 48,198,470 (GRCm38) |
C237R |
probably benign |
Het |
| Naxd |
A |
G |
8: 11,502,676 (GRCm38) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,225,294 (GRCm38) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 (GRCm38) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,648,188 (GRCm38) |
K755* |
probably null |
Het |
| Olfr1501 |
C |
T |
19: 13,838,337 (GRCm38) |
V279M |
possibly damaging |
Het |
| Olfr332 |
T |
C |
11: 58,490,051 (GRCm38) |
K235E |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,461,560 (GRCm38) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 50,956,192 (GRCm38) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 109,038,820 (GRCm38) |
T242I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,436,629 (GRCm38) |
R1814K |
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,436,905 (GRCm38) |
Q1906P |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,997,954 (GRCm38) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,380,594 (GRCm38) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,275,014 (GRCm38) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 54,997,193 (GRCm38) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,950,193 (GRCm38) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,554,216 (GRCm38) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,517,829 (GRCm38) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 94,069,012 (GRCm38) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 120,057,404 (GRCm38) |
|
probably benign |
Het |
| Stam |
G |
T |
2: 14,117,427 (GRCm38) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 157,100,224 (GRCm38) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm38) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,696,909 (GRCm38) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,983,996 (GRCm38) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,954,429 (GRCm38) |
H605R |
probably damaging |
Het |
|
| Other mutations in Myo1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Myo1b
|
APN |
1 |
51,763,954 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00943:Myo1b
|
APN |
1 |
51,784,487 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01537:Myo1b
|
APN |
1 |
51,776,351 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01550:Myo1b
|
APN |
1 |
51,784,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01610:Myo1b
|
APN |
1 |
51,776,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01667:Myo1b
|
APN |
1 |
51,760,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01743:Myo1b
|
APN |
1 |
51,782,020 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01830:Myo1b
|
APN |
1 |
51,797,465 (GRCm38) |
nonsense |
probably null |
|
|
IGL02070:Myo1b
|
APN |
1 |
51,794,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02398:Myo1b
|
APN |
1 |
51,757,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02582:Myo1b
|
APN |
1 |
51,781,974 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02685:Myo1b
|
APN |
1 |
51,778,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02938:Myo1b
|
APN |
1 |
51,801,178 (GRCm38) |
splice site |
probably null |
|
|
IGL02981:Myo1b
|
APN |
1 |
51,778,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Philemon
|
UTSW |
1 |
51,773,247 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
Phyllo
|
UTSW |
1 |
51,776,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7347_myo1b_243
|
UTSW |
1 |
51,751,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0007:Myo1b
|
UTSW |
1 |
51,776,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0007:Myo1b
|
UTSW |
1 |
51,776,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0035:Myo1b
|
UTSW |
1 |
51,778,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0040:Myo1b
|
UTSW |
1 |
51,781,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0040:Myo1b
|
UTSW |
1 |
51,781,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0491:Myo1b
|
UTSW |
1 |
51,755,698 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0959:Myo1b
|
UTSW |
1 |
51,797,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1171:Myo1b
|
UTSW |
1 |
51,778,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1440:Myo1b
|
UTSW |
1 |
51,778,558 (GRCm38) |
splice site |
probably benign |
|
|
R1539:Myo1b
|
UTSW |
1 |
51,799,563 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1616:Myo1b
|
UTSW |
1 |
51,776,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1888:Myo1b
|
UTSW |
1 |
51,760,403 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1888:Myo1b
|
UTSW |
1 |
51,760,403 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2697:Myo1b
|
UTSW |
1 |
51,863,358 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3034:Myo1b
|
UTSW |
1 |
51,773,247 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3720:Myo1b
|
UTSW |
1 |
51,776,346 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3896:Myo1b
|
UTSW |
1 |
51,773,261 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4003:Myo1b
|
UTSW |
1 |
51,799,530 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4179:Myo1b
|
UTSW |
1 |
51,778,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4308:Myo1b
|
UTSW |
1 |
51,883,109 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4444:Myo1b
|
UTSW |
1 |
51,757,919 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4679:Myo1b
|
UTSW |
1 |
51,757,973 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4914:Myo1b
|
UTSW |
1 |
51,824,208 (GRCm38) |
splice site |
probably null |
|
|
R5343:Myo1b
|
UTSW |
1 |
51,778,537 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5530:Myo1b
|
UTSW |
1 |
51,797,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5956:Myo1b
|
UTSW |
1 |
51,776,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5974:Myo1b
|
UTSW |
1 |
51,778,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6334:Myo1b
|
UTSW |
1 |
51,768,651 (GRCm38) |
missense |
probably null |
0.36 |
|
R6346:Myo1b
|
UTSW |
1 |
51,784,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6382:Myo1b
|
UTSW |
1 |
51,774,307 (GRCm38) |
splice site |
probably null |
|
|
R6757:Myo1b
|
UTSW |
1 |
51,813,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6952:Myo1b
|
UTSW |
1 |
51,762,509 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7101:Myo1b
|
UTSW |
1 |
51,758,001 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7192:Myo1b
|
UTSW |
1 |
51,757,217 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7347:Myo1b
|
UTSW |
1 |
51,751,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7446:Myo1b
|
UTSW |
1 |
51,763,906 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7468:Myo1b
|
UTSW |
1 |
51,797,480 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7503:Myo1b
|
UTSW |
1 |
51,776,602 (GRCm38) |
splice site |
probably null |
|
|
R7586:Myo1b
|
UTSW |
1 |
51,778,324 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7712:Myo1b
|
UTSW |
1 |
51,793,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7871:Myo1b
|
UTSW |
1 |
51,779,580 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7905:Myo1b
|
UTSW |
1 |
51,763,884 (GRCm38) |
splice site |
probably null |
|
|
R8093:Myo1b
|
UTSW |
1 |
51,757,875 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8485:Myo1b
|
UTSW |
1 |
51,779,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8705:Myo1b
|
UTSW |
1 |
51,863,336 (GRCm38) |
nonsense |
probably null |
|
|
R8731:Myo1b
|
UTSW |
1 |
51,760,411 (GRCm38) |
splice site |
probably benign |
|
|
R8735:Myo1b
|
UTSW |
1 |
51,755,737 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8859:Myo1b
|
UTSW |
1 |
51,797,039 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9021:Myo1b
|
UTSW |
1 |
51,781,983 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9416:Myo1b
|
UTSW |
1 |
51,863,418 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9583:Myo1b
|
UTSW |
1 |
51,757,245 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9713:Myo1b
|
UTSW |
1 |
51,779,607 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
X0065:Myo1b
|
UTSW |
1 |
51,797,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGACGTTCAAAGAAGGTTC -3'
(R):5'- AGGCTCTTAAGTCACAGTTTGG -3'
Sequencing Primer
(F):5'- GTTCAAAGAAGGTTCCCTAAGC -3'
(R):5'- AGTCACAGTTTGGATCCACCTATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation