Incidental Mutation 'R0081:Myo1d'
ID |
19693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1d
|
Ensembl Gene |
ENSMUSG00000035441 |
Gene Name |
myosin ID |
Synonyms |
D11Ertd9e, 9930104H07Rik |
MMRRC Submission |
038368-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 80448349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 925
(K925N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
|
AlphaFold |
Q5SYD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041065
AA Change: K925N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000037819 Gene: ENSMUSG00000035441 AA Change: K925N
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 |
|
Meta Mutation Damage Score |
0.0693 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.2%
- 10x: 88.5%
- 20x: 63.6%
|
Validation Efficiency |
94% (159/169) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,271,703 (GRCm39) |
D485G |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,137 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
A |
T |
5: 129,255,146 (GRCm39) |
I598F |
probably damaging |
Het |
Adh5 |
A |
G |
3: 138,157,174 (GRCm39) |
D245G |
probably benign |
Het |
Adra2b |
T |
C |
2: 127,206,212 (GRCm39) |
V238A |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,606,258 (GRCm39) |
V1188I |
possibly damaging |
Het |
Asap1 |
C |
T |
15: 63,971,413 (GRCm39) |
G905D |
probably damaging |
Het |
AW554918 |
T |
C |
18: 25,477,959 (GRCm39) |
V428A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,950,436 (GRCm39) |
S3226T |
probably benign |
Het |
Cdh17 |
A |
T |
4: 11,785,280 (GRCm39) |
|
probably benign |
Het |
Cyfip2 |
A |
T |
11: 46,144,825 (GRCm39) |
Y676* |
probably null |
Het |
Dcaf17 |
T |
A |
2: 70,908,812 (GRCm39) |
|
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,531,139 (GRCm39) |
F736L |
probably damaging |
Het |
Ddx41 |
A |
T |
13: 55,683,193 (GRCm39) |
H171Q |
possibly damaging |
Het |
Dennd5b |
G |
T |
6: 148,895,257 (GRCm39) |
Q1258K |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,295 (GRCm39) |
D137G |
probably damaging |
Het |
Dpyd |
G |
A |
3: 118,737,904 (GRCm39) |
V482I |
probably benign |
Het |
Erich6 |
A |
T |
3: 58,543,547 (GRCm39) |
|
probably benign |
Het |
Fam193b |
A |
G |
13: 55,702,024 (GRCm39) |
|
probably benign |
Het |
Foxp2 |
T |
C |
6: 15,405,643 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,577,252 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
A |
G |
11: 83,313,693 (GRCm39) |
S540P |
possibly damaging |
Het |
Glis2 |
T |
C |
16: 4,431,517 (GRCm39) |
V348A |
probably benign |
Het |
Gm14443 |
C |
A |
2: 175,011,729 (GRCm39) |
G239V |
probably damaging |
Het |
Gpr158 |
T |
C |
2: 21,831,528 (GRCm39) |
V876A |
probably damaging |
Het |
H1f8 |
A |
G |
6: 115,926,942 (GRCm39) |
E273G |
probably benign |
Het |
Hadh |
C |
T |
3: 131,029,285 (GRCm39) |
D245N |
probably damaging |
Het |
Hk2 |
A |
T |
6: 82,711,957 (GRCm39) |
|
probably benign |
Het |
Ice1 |
A |
T |
13: 70,767,163 (GRCm39) |
Y108* |
probably null |
Het |
Il10ra |
T |
G |
9: 45,167,247 (GRCm39) |
M435L |
probably benign |
Het |
Inpp5k |
GT |
G |
11: 75,521,973 (GRCm39) |
|
probably null |
Het |
Kank4 |
G |
T |
4: 98,666,567 (GRCm39) |
P627T |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,549,346 (GRCm39) |
|
probably benign |
Het |
Lipn |
A |
G |
19: 34,054,376 (GRCm39) |
I205V |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Myh1 |
T |
C |
11: 67,106,683 (GRCm39) |
M1255T |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Myoz1 |
T |
A |
14: 20,699,622 (GRCm39) |
M239L |
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nf1 |
C |
A |
11: 79,344,805 (GRCm39) |
|
probably benign |
Het |
Npepl1 |
C |
T |
2: 173,957,879 (GRCm39) |
P239S |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,506 (GRCm39) |
K131R |
probably benign |
Het |
Or12k5 |
G |
A |
2: 36,895,462 (GRCm39) |
L55F |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,935 (GRCm39) |
F73L |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,893 (GRCm39) |
Y94* |
probably null |
Het |
Or1j20 |
T |
C |
2: 36,760,022 (GRCm39) |
L148S |
possibly damaging |
Het |
Or4c10 |
T |
A |
2: 89,760,423 (GRCm39) |
I90K |
possibly damaging |
Het |
Or4f7 |
A |
C |
2: 111,644,213 (GRCm39) |
I286S |
probably damaging |
Het |
Or5p52 |
C |
T |
7: 107,502,212 (GRCm39) |
T96I |
probably benign |
Het |
Or6c202 |
C |
T |
10: 128,996,707 (GRCm39) |
D49N |
possibly damaging |
Het |
Pde7a |
T |
C |
3: 19,295,697 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,903,519 (GRCm39) |
C591R |
probably benign |
Het |
Pkn2 |
T |
G |
3: 142,559,343 (GRCm39) |
K61Q |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,058,711 (GRCm39) |
G722C |
probably damaging |
Het |
Ppp1cb |
T |
C |
5: 32,644,958 (GRCm39) |
V263A |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,895,567 (GRCm39) |
N440K |
possibly damaging |
Het |
Rbm34 |
T |
A |
8: 127,676,234 (GRCm39) |
K340N |
probably damaging |
Het |
Samd3 |
T |
C |
10: 26,147,399 (GRCm39) |
|
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sigirr |
T |
C |
7: 140,671,285 (GRCm39) |
D399G |
probably damaging |
Het |
Slc17a7 |
A |
G |
7: 44,824,371 (GRCm39) |
E554G |
probably benign |
Het |
Smc3 |
A |
G |
19: 53,589,993 (GRCm39) |
|
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,819,703 (GRCm39) |
Y68H |
probably benign |
Het |
Tespa1 |
T |
A |
10: 130,196,719 (GRCm39) |
L219Q |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,740,673 (GRCm39) |
S436G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,581,423 (GRCm39) |
I23157F |
probably damaging |
Het |
Ubxn2b |
T |
A |
4: 6,203,875 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,401,044 (GRCm39) |
E125G |
probably benign |
Het |
Vmn2r78 |
A |
T |
7: 86,572,235 (GRCm39) |
D532V |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,320,222 (GRCm39) |
L1078I |
probably benign |
Het |
Vwce |
A |
T |
19: 10,641,453 (GRCm39) |
|
probably null |
Het |
Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
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 |
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 |
|
R6954:Myo1d
|
UTSW |
11 |
80,565,783 (GRCm39) |
missense |
probably benign |
0.21 |
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'- AGGCCGGATGCTAATTTCACCTTC -3'
(R):5'- AAAGGTTAAAATCGTCACCATCGTTGC -3'
Sequencing Primer
(F):5'- ATTTGTCCTTGTGGAGGAAAAC -3'
(R):5'- CTATGGCCTGCTCTAATTCATTC -3'
|
Posted On |
2013-04-11 |