Incidental Mutation 'R6468:Myo1d'
ID |
516440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1d
|
Ensembl Gene |
ENSMUSG00000035441 |
Gene Name |
myosin ID |
Synonyms |
D11Ertd9e, 9930104H07Rik |
MMRRC Submission |
044601-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6468 (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 80448300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 942
(I942V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
|
AlphaFold |
Q5SYD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041065
AA Change: I942V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000037819 Gene: ENSMUSG00000035441 AA Change: I942V
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
A |
G |
10: 80,177,747 (GRCm39) |
V305A |
possibly damaging |
Het |
Adgrl4 |
A |
G |
3: 151,198,012 (GRCm39) |
T91A |
probably benign |
Het |
Ano6 |
A |
G |
15: 95,865,595 (GRCm39) |
I860V |
probably benign |
Het |
B3galnt1 |
A |
G |
3: 69,482,866 (GRCm39) |
S132P |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,062,592 (GRCm39) |
I3368T |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,946,266 (GRCm39) |
V33E |
probably benign |
Het |
Cacna1g |
A |
T |
11: 94,330,548 (GRCm39) |
V989D |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,712,989 (GRCm39) |
D1807G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,854,987 (GRCm39) |
M807T |
probably damaging |
Het |
Cpxm2 |
T |
C |
7: 131,672,589 (GRCm39) |
D320G |
probably damaging |
Het |
Cryzl1 |
A |
C |
16: 91,489,413 (GRCm39) |
|
probably null |
Het |
Dcbld2 |
A |
T |
16: 58,253,736 (GRCm39) |
K158* |
probably null |
Het |
Depdc5 |
A |
G |
5: 33,069,575 (GRCm39) |
N437S |
probably benign |
Het |
Dock7 |
G |
A |
4: 98,855,464 (GRCm39) |
S1496L |
probably benign |
Het |
Eea1 |
T |
G |
10: 95,864,274 (GRCm39) |
I931R |
probably benign |
Het |
Eif2ak4 |
C |
A |
2: 118,266,722 (GRCm39) |
L714I |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,125,509 (GRCm39) |
|
probably null |
Het |
Fam83b |
T |
A |
9: 76,409,413 (GRCm39) |
K238* |
probably null |
Het |
Fam83f |
A |
G |
15: 80,576,312 (GRCm39) |
Y321C |
possibly damaging |
Het |
Fanci |
A |
G |
7: 79,067,687 (GRCm39) |
I42V |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,121,728 (GRCm39) |
R1299S |
unknown |
Het |
Gak |
G |
T |
5: 108,771,202 (GRCm39) |
C102* |
probably null |
Het |
Gcnt7 |
A |
G |
2: 172,295,993 (GRCm39) |
L277P |
probably damaging |
Het |
Gucy2d |
A |
G |
7: 98,099,168 (GRCm39) |
E329G |
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,040,755 (GRCm39) |
I167V |
probably damaging |
Het |
Hdlbp |
T |
A |
1: 93,345,389 (GRCm39) |
D662V |
possibly damaging |
Het |
Hspa4 |
A |
T |
11: 53,155,883 (GRCm39) |
V674E |
probably benign |
Het |
Hunk |
A |
G |
16: 90,290,320 (GRCm39) |
Q442R |
possibly damaging |
Het |
Lce1j |
A |
T |
3: 92,696,729 (GRCm39) |
C16* |
probably null |
Het |
Lrat |
A |
T |
3: 82,810,799 (GRCm39) |
M74K |
probably damaging |
Het |
Lrig2 |
G |
A |
3: 104,374,509 (GRCm39) |
R191C |
probably damaging |
Het |
Lrrc37a |
A |
C |
11: 103,351,666 (GRCm39) |
F2558L |
unknown |
Het |
Mctp1 |
T |
A |
13: 76,879,930 (GRCm39) |
|
probably null |
Het |
Mecom |
T |
A |
3: 30,194,535 (GRCm39) |
|
probably benign |
Het |
Mgst1 |
A |
G |
6: 138,118,585 (GRCm39) |
|
probably null |
Het |
Ms4a15 |
T |
G |
19: 10,970,534 (GRCm39) |
E3A |
probably benign |
Het |
Neu2 |
A |
G |
1: 87,524,600 (GRCm39) |
Y195C |
probably damaging |
Het |
Nipa1 |
A |
T |
7: 55,669,252 (GRCm39) |
V22E |
probably benign |
Het |
Or4n4b |
A |
T |
14: 50,535,924 (GRCm39) |
L281I |
probably benign |
Het |
Or6c35 |
T |
C |
10: 129,169,580 (GRCm39) |
S277P |
possibly damaging |
Het |
Or8k25 |
T |
A |
2: 86,244,381 (GRCm39) |
N5I |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,562,389 (GRCm39) |
T1223A |
possibly damaging |
Het |
Ppl |
T |
C |
16: 4,910,305 (GRCm39) |
D811G |
probably damaging |
Het |
Prep |
T |
A |
10: 44,991,203 (GRCm39) |
Y290N |
probably damaging |
Het |
Ptk6 |
A |
T |
2: 180,840,895 (GRCm39) |
H215Q |
probably benign |
Het |
Rad50 |
A |
G |
11: 53,582,971 (GRCm39) |
I474T |
possibly damaging |
Het |
Rnf213 |
T |
A |
11: 119,343,513 (GRCm39) |
V3626E |
possibly damaging |
Het |
Scn4a |
C |
T |
11: 106,236,502 (GRCm39) |
V253M |
probably damaging |
Het |
Snta1 |
T |
A |
2: 154,219,069 (GRCm39) |
D422V |
probably damaging |
Het |
Spata31h1 |
G |
T |
10: 82,131,150 (GRCm39) |
T620K |
probably benign |
Het |
Stk38 |
A |
G |
17: 29,203,086 (GRCm39) |
L160P |
probably benign |
Het |
Tapbp |
T |
C |
17: 34,145,072 (GRCm39) |
F323S |
probably damaging |
Het |
Uggt1 |
C |
T |
1: 36,212,531 (GRCm39) |
R937Q |
probably benign |
Het |
Vash2 |
G |
A |
1: 190,710,484 (GRCm39) |
P57L |
probably damaging |
Het |
Vmn1r4 |
G |
A |
6: 56,933,852 (GRCm39) |
V119I |
probably benign |
Het |
Vmn2r74 |
T |
C |
7: 85,610,599 (GRCm39) |
D31G |
probably benign |
Het |
Zfp114 |
T |
C |
7: 23,877,206 (GRCm39) |
V16A |
possibly 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 |
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'- AATAAGGCCGGATGCTAATTTCAC -3'
(R):5'- ACCATCGTTGCTATGGCCTG -3'
Sequencing Primer
(F):5'- GCCGGATGCTAATTTCACCTTCTATG -3'
(R):5'- TGCTCTAATTCATTCTTCCAGGAG -3'
|
Posted On |
2018-05-21 |