Incidental Mutation 'R7347:Myo1b'
| ID |
570243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
045374-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.673)
|
| Stock # |
R7347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51790413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1110
(F1110L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: F1110L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: F1110L
| 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 |
possibly damaging
Transcript: ENSMUST00000046390
AA Change: F1081L
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: F1081L
| 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 |
possibly damaging
Transcript: ENSMUST00000114537
AA Change: F1052L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: F1052L
| 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 |
possibly damaging
Transcript: ENSMUST00000114541
AA Change: F1058L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: F1058L
| 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 |
|
| Meta Mutation Damage Score |
0.1625 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
G |
T |
3: 104,985,728 (GRCm39) |
R47S |
unknown |
Het |
| Abtb2 |
T |
G |
2: 103,397,757 (GRCm39) |
I229S |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,727,441 (GRCm39) |
L457P |
probably damaging |
Het |
| Amer3 |
C |
A |
1: 34,626,983 (GRCm39) |
D407E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,760,335 (GRCm39) |
S729P |
probably benign |
Het |
| Asap2 |
T |
G |
12: 21,279,458 (GRCm39) |
I418S |
probably benign |
Het |
| Atp5mf |
T |
C |
5: 145,125,295 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
T |
A |
1: 146,777,824 (GRCm39) |
V757E |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,029,929 (GRCm39) |
G572R |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,215 (GRCm39) |
R462L |
probably benign |
Het |
| Cat |
T |
A |
2: 103,293,643 (GRCm39) |
H395L |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,098,656 (GRCm39) |
P814Q |
probably damaging |
Het |
| Cela3a |
T |
C |
4: 137,129,917 (GRCm39) |
N235D |
possibly damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,076,094 (GRCm39) |
G993W |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,218,484 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,654 (GRCm39) |
H29N |
probably benign |
Het |
| Dll3 |
C |
T |
7: 27,998,536 (GRCm39) |
R143H |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,784,530 (GRCm39) |
*114R |
probably null |
Het |
| Ecm2 |
T |
C |
13: 49,668,554 (GRCm39) |
S86P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,724 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,644,328 (GRCm39) |
|
probably null |
Het |
| Exph5 |
A |
G |
9: 53,287,196 (GRCm39) |
N1426D |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,586 (GRCm39) |
F110L |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,517,191 (GRCm39) |
E1032V |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,907,205 (GRCm39) |
H556L |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,740,299 (GRCm39) |
Y344N |
probably benign |
Het |
| Glrx3 |
C |
A |
7: 137,061,015 (GRCm39) |
D216E |
possibly damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,499 (GRCm39) |
C246S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,949,689 (GRCm39) |
L137P |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,116,616 (GRCm39) |
T169A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,326,994 (GRCm39) |
T4778P |
probably benign |
Het |
| Ifna15 |
A |
G |
4: 88,476,220 (GRCm39) |
L88P |
probably damaging |
Het |
| Inhca |
T |
A |
9: 103,159,845 (GRCm39) |
E22V |
possibly damaging |
Het |
| Kcnab1 |
G |
A |
3: 65,283,952 (GRCm39) |
R390H |
probably benign |
Het |
| Kng1 |
C |
A |
16: 22,886,537 (GRCm39) |
H161N |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,902,878 (GRCm39) |
V199A |
probably benign |
Het |
| Lrig3 |
G |
A |
10: 125,845,835 (GRCm39) |
V755M |
probably damaging |
Het |
| Mad1l1 |
C |
T |
5: 140,129,799 (GRCm39) |
R412H |
probably damaging |
Het |
| Marchf6 |
C |
A |
15: 31,486,505 (GRCm39) |
C350F |
probably benign |
Het |
| Mastl |
A |
G |
2: 23,023,401 (GRCm39) |
S441P |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,590,951 (GRCm39) |
M231L |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,981,358 (GRCm39) |
V444A |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,787 (GRCm39) |
M516V |
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,460,147 (GRCm39) |
L381* |
probably null |
Het |
| Nln |
T |
C |
13: 104,187,355 (GRCm39) |
K325E |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,663 (GRCm39) |
P271S |
probably benign |
Het |
| Obox6 |
A |
C |
7: 15,568,571 (GRCm39) |
L102V |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,799 (GRCm39) |
S227G |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,615 (GRCm39) |
I109V |
possibly damaging |
Het |
| Or7g33 |
A |
G |
9: 19,448,395 (GRCm39) |
M277T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,181 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,294 (GRCm39) |
H567R |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,343,759 (GRCm39) |
S760L |
possibly damaging |
Het |
| Pid1 |
T |
A |
1: 84,136,850 (GRCm39) |
I94L |
unknown |
Het |
| Plekhn1 |
T |
C |
4: 156,307,128 (GRCm39) |
H474R |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,776,988 (GRCm39) |
S329T |
possibly damaging |
Het |
| Pros1 |
G |
T |
16: 62,739,886 (GRCm39) |
R445L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,062,260 (GRCm39) |
H1370Q |
probably benign |
Het |
| Sgce |
T |
A |
6: 4,694,106 (GRCm39) |
R283S |
probably damaging |
Het |
| Slc25a20 |
T |
G |
9: 108,559,657 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,779 (GRCm39) |
V446A |
probably damaging |
Het |
| Slc6a4 |
C |
G |
11: 76,907,911 (GRCm39) |
Y358* |
probably null |
Het |
| Sned1 |
A |
C |
1: 93,209,458 (GRCm39) |
E857A |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,548 (GRCm39) |
L544Q |
probably benign |
Het |
| Spata31e3 |
T |
C |
13: 50,399,780 (GRCm39) |
I849V |
probably benign |
Het |
| Spdye4b |
C |
T |
5: 143,188,145 (GRCm39) |
R213C |
possibly damaging |
Het |
| Spry2 |
T |
G |
14: 106,130,946 (GRCm39) |
E80A |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,497,015 (GRCm39) |
C142Y |
probably benign |
Het |
| Sync |
A |
T |
4: 129,188,099 (GRCm39) |
Q377L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,185,117 (GRCm39) |
C718R |
|
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmbim1 |
T |
C |
1: 74,330,438 (GRCm39) |
E185G |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,019,330 (GRCm39) |
M1031V |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,428 (GRCm39) |
V87I |
not run |
Het |
| Vmn2r49 |
A |
G |
7: 9,720,741 (GRCm39) |
V250A |
probably benign |
Het |
| Yipf3 |
A |
C |
17: 46,561,753 (GRCm39) |
T187P |
probably damaging |
Het |
| Zfp148 |
G |
T |
16: 33,255,160 (GRCm39) |
R50L |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
|
|
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 |
|
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'- TAATTGTGCCAAGAGGACGC -3'
(R):5'- TCTCATCAAACATGGGACGG -3'
Sequencing Primer
(F):5'- CCAAGAGGACGCTAACAGTTAGC -3'
(R):5'- CGACTGCCACTTTTGTGT -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation