Incidental Mutation 'R6954:Myo1d'
| ID |
541382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| 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 |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80565783 bp (GRCm39)
|
| 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 |
|---|
| 4930451I11Rik |
A |
T |
7: 126,429,809 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
C |
6: 116,397,241 (GRCm39) |
Y314* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 126,906,871 (GRCm39) |
S1044P |
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,312,796 (GRCm39) |
V391A |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,145 (GRCm39) |
T326A |
probably benign |
Het |
| Ccm2 |
T |
A |
11: 6,544,239 (GRCm39) |
I345N |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,896,373 (GRCm39) |
H1034Y |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,483,696 (GRCm39) |
L849S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 112,413,296 (GRCm39) |
S239P |
probably damaging |
Het |
| Dennd1b |
T |
A |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,957,258 (GRCm39) |
I2773T |
probably damaging |
Het |
| Eif2b2 |
T |
A |
12: 85,272,817 (GRCm39) |
F267L |
probably damaging |
Het |
| Fcrl2 |
A |
G |
3: 87,170,983 (GRCm39) |
|
probably benign |
Het |
| Furin |
G |
T |
7: 80,046,712 (GRCm39) |
D181E |
possibly damaging |
Het |
| Gm29106 |
T |
A |
1: 118,128,317 (GRCm39) |
C670S |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,300 (GRCm39) |
D204E |
possibly damaging |
Het |
| Hsf2 |
T |
A |
10: 57,380,739 (GRCm39) |
I191N |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,788,124 (GRCm39) |
D566G |
probably benign |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm39) |
C44Y |
probably damaging |
Het |
| Letm1 |
G |
A |
5: 33,939,851 (GRCm39) |
R16C |
probably benign |
Het |
| Lypd8l |
T |
A |
11: 58,499,314 (GRCm39) |
Y168F |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,956,384 (GRCm39) |
V819A |
probably damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,767,948 (GRCm39) |
S428T |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,463 (GRCm39) |
I175V |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,359,922 (GRCm39) |
V438E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,185,044 (GRCm39) |
V768E |
possibly damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,567 (GRCm39) |
Y258* |
probably null |
Het |
| Or9g4b |
T |
A |
2: 85,616,726 (GRCm39) |
Y290* |
probably null |
Het |
| Pcdh15 |
C |
T |
10: 74,481,821 (GRCm39) |
H1651Y |
possibly damaging |
Het |
| Pdgfra |
A |
T |
5: 75,334,055 (GRCm39) |
Q376L |
possibly damaging |
Het |
| Pign |
T |
C |
1: 105,481,622 (GRCm39) |
I791M |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 132,994,041 (GRCm39) |
S2A |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,975,558 (GRCm39) |
I304K |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,702,054 (GRCm39) |
L1294* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,052,872 (GRCm39) |
S797P |
probably damaging |
Het |
| Prob1 |
A |
G |
18: 35,787,321 (GRCm39) |
V311A |
probably benign |
Het |
| Prune2 |
C |
A |
19: 16,977,385 (GRCm39) |
T40K |
probably damaging |
Het |
| Rif1 |
T |
G |
2: 52,002,703 (GRCm39) |
D2052E |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,519 (GRCm39) |
V195A |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,474,729 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
T |
9: 45,864,148 (GRCm39) |
N123K |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,599,460 (GRCm39) |
A320T |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,388,973 (GRCm39) |
H279R |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,135,556 (GRCm39) |
V252A |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,823,150 (GRCm39) |
T231A |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,691,905 (GRCm39) |
H429L |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,517,782 (GRCm39) |
T87I |
probably benign |
Het |
| Tcstv6 |
A |
G |
13: 120,307,666 (GRCm39) |
D20G |
possibly damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,582 (GRCm39) |
L130H |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,411,921 (GRCm39) |
|
probably null |
Het |
| Tmppe |
G |
A |
9: 114,234,591 (GRCm39) |
V297I |
probably benign |
Het |
| Ung |
G |
T |
5: 114,269,398 (GRCm39) |
A37S |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,277,200 (GRCm39) |
Y237H |
probably damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,328 (GRCm39) |
Y11C |
probably damaging |
Het |
| Vmn1r24 |
A |
G |
6: 57,933,437 (GRCm39) |
I27T |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 75,875,522 (GRCm39) |
M467K |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,668,535 (GRCm39) |
I329V |
probably damaging |
Het |
|
| Other mutations in Myo1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Myo1d
|
APN |
11 |
80,492,566 (GRCm39) |
missense |
probably benign |
|
|
IGL01087:Myo1d
|
APN |
11 |
80,573,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Myo1d
|
APN |
11 |
80,575,147 (GRCm39) |
splice site |
probably benign |
|
|
IGL01431:Myo1d
|
APN |
11 |
80,565,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Myo1d
|
APN |
11 |
80,566,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01811:Myo1d
|
APN |
11 |
80,583,823 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02301:Myo1d
|
APN |
11 |
80,567,679 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02388:Myo1d
|
APN |
11 |
80,528,823 (GRCm39) |
nonsense |
probably null |
|
|
IGL02485:Myo1d
|
APN |
11 |
80,557,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03017:Myo1d
|
APN |
11 |
80,492,452 (GRCm39) |
missense |
probably benign |
0.26 |
|
horton
|
UTSW |
11 |
80,565,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
multifaceted
|
UTSW |
11 |
80,583,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
whisper
|
UTSW |
11 |
80,375,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
whisper2
|
UTSW |
11 |
80,557,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
whisper3
|
UTSW |
11 |
80,448,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,528,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,528,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Myo1d
|
UTSW |
11 |
80,448,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0096:Myo1d
|
UTSW |
11 |
80,375,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0096:Myo1d
|
UTSW |
11 |
80,375,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0244:Myo1d
|
UTSW |
11 |
80,565,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Myo1d
|
UTSW |
11 |
80,375,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0746:Myo1d
|
UTSW |
11 |
80,477,705 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1084:Myo1d
|
UTSW |
11 |
80,575,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Myo1d
|
UTSW |
11 |
80,576,734 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1676:Myo1d
|
UTSW |
11 |
80,575,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Myo1d
|
UTSW |
11 |
80,553,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Myo1d
|
UTSW |
11 |
80,565,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Myo1d
|
UTSW |
11 |
80,670,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3425:Myo1d
|
UTSW |
11 |
80,492,464 (GRCm39) |
missense |
probably benign |
|
|
R3429:Myo1d
|
UTSW |
11 |
80,573,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Myo1d
|
UTSW |
11 |
80,557,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Myo1d
|
UTSW |
11 |
80,375,087 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4706:Myo1d
|
UTSW |
11 |
80,557,467 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4723:Myo1d
|
UTSW |
11 |
80,670,667 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4924:Myo1d
|
UTSW |
11 |
80,565,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Myo1d
|
UTSW |
11 |
80,448,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Myo1d
|
UTSW |
11 |
80,575,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5481:Myo1d
|
UTSW |
11 |
80,553,921 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6214:Myo1d
|
UTSW |
11 |
80,670,617 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R6235:Myo1d
|
UTSW |
11 |
80,583,770 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6282:Myo1d
|
UTSW |
11 |
80,448,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6468:Myo1d
|
UTSW |
11 |
80,448,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6668:Myo1d
|
UTSW |
11 |
80,474,701 (GRCm39) |
intron |
probably benign |
|
|
R7077:Myo1d
|
UTSW |
11 |
80,565,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Myo1d
|
UTSW |
11 |
80,565,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Myo1d
|
UTSW |
11 |
80,565,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Myo1d
|
UTSW |
11 |
80,483,621 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7276:Myo1d
|
UTSW |
11 |
80,583,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Myo1d
|
UTSW |
11 |
80,477,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Myo1d
|
UTSW |
11 |
80,492,510 (GRCm39) |
missense |
probably benign |
|
|
R7678:Myo1d
|
UTSW |
11 |
80,567,719 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7859:Myo1d
|
UTSW |
11 |
80,575,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Myo1d
|
UTSW |
11 |
80,448,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Myo1d
|
UTSW |
11 |
80,528,900 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8474:Myo1d
|
UTSW |
11 |
80,561,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8799:Myo1d
|
UTSW |
11 |
80,575,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Myo1d
|
UTSW |
11 |
80,567,758 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8810:Myo1d
|
UTSW |
11 |
80,565,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Myo1d
|
UTSW |
11 |
80,492,571 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9221:Myo1d
|
UTSW |
11 |
80,565,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Myo1d
|
UTSW |
11 |
80,375,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9625:Myo1d
|
UTSW |
11 |
80,448,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9626:Myo1d
|
UTSW |
11 |
80,448,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9628:Myo1d
|
UTSW |
11 |
80,448,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Myo1d
|
UTSW |
11 |
80,565,724 (GRCm39) |
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