Incidental Mutation 'R1514:Myo1d'
ID |
168634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1d
|
Ensembl Gene |
ENSMUSG00000035441 |
Gene Name |
myosin ID |
Synonyms |
D11Ertd9e, 9930104H07Rik |
MMRRC Submission |
039561-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1514 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80576734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 114
(Y114N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
[ENSMUST00000070997]
|
AlphaFold |
Q5SYD0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041065
AA Change: Y114N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037819 Gene: ENSMUSG00000035441 AA Change: Y114N
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 damaging
Transcript: ENSMUST00000070997
AA Change: Y114N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066948 Gene: ENSMUSG00000035441 AA Change: Y114N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125944
|
Meta Mutation Damage Score |
0.4843 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,448,729 (GRCm39) |
L147Q |
probably damaging |
Het |
Aadacl4fm5 |
T |
C |
4: 144,504,329 (GRCm39) |
N274S |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,724,791 (GRCm39) |
T75A |
possibly damaging |
Het |
Acvr1 |
A |
T |
2: 58,337,597 (GRCm39) |
L495* |
probably null |
Het |
Add1 |
T |
C |
5: 34,767,961 (GRCm39) |
I240T |
probably benign |
Het |
Adgra2 |
C |
A |
8: 27,611,306 (GRCm39) |
S870* |
probably null |
Het |
Amer3 |
G |
A |
1: 34,618,408 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
T |
2: 59,792,670 (GRCm39) |
V486D |
probably benign |
Het |
Bcorl1 |
T |
A |
X: 47,494,821 (GRCm39) |
D1697E |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,411,338 (GRCm39) |
D282G |
possibly damaging |
Het |
Cep112 |
A |
G |
11: 108,362,880 (GRCm39) |
D200G |
probably damaging |
Het |
Clec4a4 |
C |
T |
6: 122,967,401 (GRCm39) |
P26S |
probably benign |
Het |
Crygf |
A |
C |
1: 65,967,197 (GRCm39) |
R102S |
possibly damaging |
Het |
Cyp2b19 |
A |
T |
7: 26,466,585 (GRCm39) |
E404D |
probably benign |
Het |
Dcdc2a |
A |
G |
13: 25,245,237 (GRCm39) |
I105V |
probably benign |
Het |
Dus4l |
T |
C |
12: 31,690,938 (GRCm39) |
M238V |
probably damaging |
Het |
Eprs1 |
G |
A |
1: 185,114,031 (GRCm39) |
M326I |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,114,661 (GRCm39) |
T1010A |
probably benign |
Het |
Fam124b |
T |
C |
1: 80,178,148 (GRCm39) |
T284A |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,680,420 (GRCm39) |
|
probably benign |
Het |
Gm16223 |
T |
A |
5: 42,225,298 (GRCm39) |
|
probably null |
Het |
Gm4952 |
T |
A |
19: 12,604,278 (GRCm39) |
M230K |
probably damaging |
Het |
Gm5828 |
C |
A |
1: 16,839,583 (GRCm39) |
|
noncoding transcript |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifna16 |
T |
A |
4: 88,594,979 (GRCm39) |
T39S |
possibly damaging |
Het |
Kcnc3 |
G |
A |
7: 44,245,027 (GRCm39) |
G439D |
probably damaging |
Het |
Kif1c |
T |
C |
11: 70,596,555 (GRCm39) |
S257P |
probably damaging |
Het |
Kng1 |
A |
G |
16: 22,898,510 (GRCm39) |
K456E |
probably damaging |
Het |
Lpxn |
T |
C |
19: 12,801,414 (GRCm39) |
L142P |
probably damaging |
Het |
Lratd1 |
C |
T |
12: 14,199,864 (GRCm39) |
V288M |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,768,565 (GRCm39) |
|
probably benign |
Het |
Mks1 |
A |
T |
11: 87,751,937 (GRCm39) |
D369V |
probably benign |
Het |
Npas2 |
A |
G |
1: 39,350,935 (GRCm39) |
D126G |
possibly damaging |
Het |
Oga |
A |
G |
19: 45,765,370 (GRCm39) |
S146P |
probably damaging |
Het |
Onecut2 |
T |
C |
18: 64,474,651 (GRCm39) |
F401L |
possibly damaging |
Het |
Or10n1 |
T |
C |
9: 39,524,992 (GRCm39) |
I43T |
probably damaging |
Het |
Or10v1 |
A |
G |
19: 11,873,978 (GRCm39) |
T198A |
probably benign |
Het |
Or4f61 |
T |
C |
2: 111,922,381 (GRCm39) |
I222V |
probably benign |
Het |
Parp11 |
T |
A |
6: 127,451,256 (GRCm39) |
F102Y |
possibly damaging |
Het |
Pcnx1 |
C |
T |
12: 81,965,572 (GRCm39) |
H580Y |
probably damaging |
Het |
Pde3b |
A |
G |
7: 114,130,001 (GRCm39) |
H852R |
probably damaging |
Het |
Pira1 |
G |
A |
7: 3,742,639 (GRCm39) |
T23I |
possibly damaging |
Het |
Pou2af1 |
A |
G |
9: 51,144,508 (GRCm39) |
T141A |
probably benign |
Het |
Rgs22 |
A |
C |
15: 36,013,246 (GRCm39) |
V1190G |
probably benign |
Het |
Rnf112 |
T |
C |
11: 61,341,236 (GRCm39) |
S450G |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,987,378 (GRCm39) |
I893N |
probably damaging |
Het |
Rps3a1 |
A |
G |
3: 86,045,834 (GRCm39) |
V210A |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,046,224 (GRCm39) |
A114T |
possibly damaging |
Het |
Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Secisbp2 |
A |
G |
13: 51,836,131 (GRCm39) |
S742G |
possibly damaging |
Het |
Selenow |
G |
T |
7: 15,654,223 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
A |
G |
2: 122,531,334 (GRCm39) |
V226A |
probably damaging |
Het |
Sntb2 |
A |
G |
8: 107,718,164 (GRCm39) |
N291D |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,222,866 (GRCm39) |
T190A |
probably damaging |
Het |
Spata31e5 |
T |
A |
1: 28,817,829 (GRCm39) |
T68S |
possibly damaging |
Het |
Specc1 |
T |
A |
11: 62,047,358 (GRCm39) |
L909H |
probably damaging |
Het |
Sprr1b |
T |
C |
3: 92,344,414 (GRCm39) |
*154W |
probably null |
Het |
Taar4 |
T |
A |
10: 23,836,510 (GRCm39) |
M40K |
possibly damaging |
Het |
Ubr2 |
A |
T |
17: 47,311,749 (GRCm39) |
L34H |
probably damaging |
Het |
Ubxn6 |
T |
C |
17: 56,376,003 (GRCm39) |
K386R |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,821,825 (GRCm39) |
T168S |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,344,667 (GRCm39) |
R2303* |
probably null |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp13 |
G |
T |
17: 23,795,386 (GRCm39) |
T395K |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,554,435 (GRCm39) |
N471S |
probably benign |
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 |
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'- CCAGGACACCTTCAACTATTGCAAAGT -3'
(R):5'- TGCGAGCACCCGACTCTGAT -3'
Sequencing Primer
(F):5'- TGTGCAATGTGAGAATCAAAGC -3'
(R):5'- gcattcaatttccatcaaccac -3'
|
Posted On |
2014-04-13 |