Incidental Mutation 'R6954:Myo1d'
| ID |
541382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
9930104H07Rik, D11Ertd9e |
| MMRRC Submission |
045066-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80482126-80780025 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80674957 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 347
(I347M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
[ENSMUST00000070997]
|
| AlphaFold |
Q5SYD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041065
AA Change: I347M
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: I347M
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
3 |
696 |
N/A |
SMART |
|
IQ
|
697 |
719 |
1.46e-3 |
SMART |
|
Pfam:Myosin_TH1
|
803 |
1006 |
4.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070997
AA Change: I347M
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: I347M
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
3 |
696 |
N/A |
SMART |
|
IQ
|
697 |
719 |
1.46e-3 |
SMART |
|
Pfam:Myosin_TH1
|
802 |
913 |
1.8e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210407C18Rik |
T |
A |
11: 58,608,488 (GRCm38) |
Y168F |
probably benign |
Het |
| 4930451I11Rik |
A |
T |
7: 126,830,637 (GRCm38) |
|
probably null |
Het |
| Alox5 |
A |
C |
6: 116,420,280 (GRCm38) |
Y314* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 127,064,951 (GRCm38) |
S1044P |
probably benign |
Het |
| Ash2l |
A |
G |
8: 25,822,768 (GRCm38) |
V391A |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 141,067,232 (GRCm38) |
T326A |
probably benign |
Het |
| Ccm2 |
T |
A |
11: 6,594,239 (GRCm38) |
I345N |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,748,559 (GRCm38) |
H1034Y |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,599,496 (GRCm38) |
L849S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 111,686,664 (GRCm38) |
S239P |
probably damaging |
Het |
| D13Ertd608e |
A |
G |
13: 119,846,130 (GRCm38) |
D20G |
possibly damaging |
Het |
| Dennd1b |
T |
A |
1: 139,168,945 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,066,432 (GRCm38) |
I2773T |
probably damaging |
Het |
| Eif2b2 |
T |
A |
12: 85,226,043 (GRCm38) |
F267L |
probably damaging |
Het |
| Fcrls |
A |
G |
3: 87,263,676 (GRCm38) |
|
probably benign |
Het |
| Furin |
G |
T |
7: 80,396,964 (GRCm38) |
D181E |
possibly damaging |
Het |
| Gm29106 |
T |
A |
1: 118,200,587 (GRCm38) |
C670S |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,168,490 (GRCm38) |
D204E |
possibly damaging |
Het |
| Hsf2 |
T |
A |
10: 57,504,643 (GRCm38) |
I191N |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,799,692 (GRCm38) |
D566G |
probably benign |
Het |
| Igf1 |
G |
C |
10: 87,864,860 (GRCm38) |
V49L |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm38) |
C44Y |
probably damaging |
Het |
| Letm1 |
G |
A |
5: 33,782,507 (GRCm38) |
R16C |
probably benign |
Het |
| Marf1 |
A |
G |
16: 14,138,520 (GRCm38) |
V819A |
probably damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,891,952 (GRCm38) |
S428T |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,290,819 (GRCm38) |
I175V |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,223,414 (GRCm38) |
V438E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,208,109 (GRCm38) |
V768E |
possibly damaging |
Het |
| Olfr1015 |
T |
A |
2: 85,786,382 (GRCm38) |
Y290* |
probably null |
Het |
| Olfr731 |
A |
T |
14: 50,238,110 (GRCm38) |
Y258* |
probably null |
Het |
| Pcdh15 |
C |
T |
10: 74,645,989 (GRCm38) |
H1651Y |
possibly damaging |
Het |
| Pdgfra |
A |
T |
5: 75,173,394 (GRCm38) |
Q376L |
possibly damaging |
Het |
| Pign |
T |
C |
1: 105,553,897 (GRCm38) |
I791M |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,066,303 (GRCm38) |
S2A |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 95,068,247 (GRCm38) |
I304K |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,817,853 (GRCm38) |
L1294* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,064,433 (GRCm38) |
S797P |
probably damaging |
Het |
| Prob1 |
A |
G |
18: 35,654,268 (GRCm38) |
V311A |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,000,021 (GRCm38) |
T40K |
probably damaging |
Het |
| Rif1 |
T |
G |
2: 52,112,691 (GRCm38) |
D2052E |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,032,891 (GRCm38) |
V195A |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,427,946 (GRCm38) |
|
probably null |
Het |
| Sidt2 |
A |
T |
9: 45,952,850 (GRCm38) |
N123K |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,622,096 (GRCm38) |
A320T |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,498,147 (GRCm38) |
H279R |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,158,621 (GRCm38) |
V252A |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,886,340 (GRCm38) |
T231A |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,801,893 (GRCm38) |
H429L |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,627,770 (GRCm38) |
T87I |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,652,275 (GRCm38) |
L130H |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,554,724 (GRCm38) |
|
probably null |
Het |
| Tmppe |
G |
A |
9: 114,405,523 (GRCm38) |
V297I |
probably benign |
Het |
| Ung |
G |
T |
5: 114,131,337 (GRCm38) |
A37S |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,386,373 (GRCm38) |
Y237H |
probably damaging |
Het |
| Vgll4 |
T |
C |
6: 114,921,367 (GRCm38) |
Y11C |
probably damaging |
Het |
| Vmn1r24 |
A |
G |
6: 57,956,452 (GRCm38) |
I27T |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 76,039,688 (GRCm38) |
M467K |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,484,365 (GRCm38) |
I329V |
probably damaging |
Het |
|
| Other mutations in Myo1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Myo1d
|
APN |
11 |
80,601,740 (GRCm38) |
missense |
probably benign |
|
|
IGL01087:Myo1d
|
APN |
11 |
80,682,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01326:Myo1d
|
APN |
11 |
80,684,321 (GRCm38) |
splice site |
probably benign |
|
|
IGL01431:Myo1d
|
APN |
11 |
80,674,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01595:Myo1d
|
APN |
11 |
80,676,110 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01811:Myo1d
|
APN |
11 |
80,692,997 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02301:Myo1d
|
APN |
11 |
80,676,853 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02388:Myo1d
|
APN |
11 |
80,637,997 (GRCm38) |
nonsense |
probably null |
|
|
IGL02485:Myo1d
|
APN |
11 |
80,666,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03017:Myo1d
|
APN |
11 |
80,601,626 (GRCm38) |
missense |
probably benign |
0.26 |
|
horton
|
UTSW |
11 |
80,674,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
multifaceted
|
UTSW |
11 |
80,693,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whisper
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
whisper2
|
UTSW |
11 |
80,666,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whisper3
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,637,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,637,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0081:Myo1d
|
UTSW |
11 |
80,557,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0096:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0096:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0244:Myo1d
|
UTSW |
11 |
80,674,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0711:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0746:Myo1d
|
UTSW |
11 |
80,586,879 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1084:Myo1d
|
UTSW |
11 |
80,684,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Myo1d
|
UTSW |
11 |
80,685,908 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1676:Myo1d
|
UTSW |
11 |
80,684,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Myo1d
|
UTSW |
11 |
80,663,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2497:Myo1d
|
UTSW |
11 |
80,674,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2512:Myo1d
|
UTSW |
11 |
80,779,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3425:Myo1d
|
UTSW |
11 |
80,601,638 (GRCm38) |
missense |
probably benign |
|
|
R3429:Myo1d
|
UTSW |
11 |
80,682,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3917:Myo1d
|
UTSW |
11 |
80,666,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3928:Myo1d
|
UTSW |
11 |
80,484,261 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4706:Myo1d
|
UTSW |
11 |
80,666,641 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4723:Myo1d
|
UTSW |
11 |
80,779,841 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4924:Myo1d
|
UTSW |
11 |
80,674,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5042:Myo1d
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5320:Myo1d
|
UTSW |
11 |
80,684,323 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5481:Myo1d
|
UTSW |
11 |
80,663,095 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6214:Myo1d
|
UTSW |
11 |
80,779,791 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
|
R6235:Myo1d
|
UTSW |
11 |
80,692,944 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6282:Myo1d
|
UTSW |
11 |
80,557,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6468:Myo1d
|
UTSW |
11 |
80,557,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6668:Myo1d
|
UTSW |
11 |
80,583,875 (GRCm38) |
intron |
probably benign |
|
|
R7077:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7078:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7080:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7172:Myo1d
|
UTSW |
11 |
80,592,795 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7276:Myo1d
|
UTSW |
11 |
80,693,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7467:Myo1d
|
UTSW |
11 |
80,586,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7650:Myo1d
|
UTSW |
11 |
80,601,684 (GRCm38) |
missense |
probably benign |
|
|
R7678:Myo1d
|
UTSW |
11 |
80,676,893 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7859:Myo1d
|
UTSW |
11 |
80,684,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8324:Myo1d
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8329:Myo1d
|
UTSW |
11 |
80,638,074 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8474:Myo1d
|
UTSW |
11 |
80,670,919 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8799:Myo1d
|
UTSW |
11 |
80,684,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8810:Myo1d
|
UTSW |
11 |
80,676,932 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8810:Myo1d
|
UTSW |
11 |
80,674,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8823:Myo1d
|
UTSW |
11 |
80,601,745 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9221:Myo1d
|
UTSW |
11 |
80,674,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9494:Myo1d
|
UTSW |
11 |
80,484,267 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9625:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9626:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9628:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1088:Myo1d
|
UTSW |
11 |
80,674,898 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTCAAAGCTACAGGAGAC -3'
(R):5'- CCATGTAGCTATCTGGGAATAGG -3'
Sequencing Primer
(F):5'- AAAACCCAAGCAGTAGGATTTTC -3'
(R):5'- GGAATAGGTGATGTGCATTCTAATC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation