Incidental Mutation 'R9626:Myo1d'
| ID |
725164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9626 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 80448296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 943
(G943V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
|
| AlphaFold |
Q5SYD0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041065
AA Change: G943V
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: G943V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,127,502 (GRCm39) |
N37I |
unknown |
Het |
| Abca9 |
T |
A |
11: 110,011,606 (GRCm39) |
T1146S |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,380,179 (GRCm39) |
H400Y |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,275,721 (GRCm39) |
S768P |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,878 (GRCm39) |
H47L |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,796 (GRCm39) |
N712I |
possibly damaging |
Het |
| Bri3bp |
T |
A |
5: 125,531,572 (GRCm39) |
S173T |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,168,287 (GRCm39) |
S254R |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,247,294 (GRCm39) |
E285G |
probably benign |
Het |
| Celf2 |
G |
A |
2: 6,590,835 (GRCm39) |
A320V |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,726,521 (GRCm39) |
I3250T |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
| Cntrob |
T |
C |
11: 69,202,167 (GRCm39) |
H475R |
possibly damaging |
Het |
| Dcaf6 |
G |
A |
1: 165,227,264 (GRCm39) |
R288* |
probably null |
Het |
| Ebna1bp2 |
G |
A |
4: 118,478,371 (GRCm39) |
|
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,444,730 (GRCm39) |
D302V |
probably benign |
Het |
| Fbxo48 |
T |
A |
11: 16,904,333 (GRCm39) |
*162K |
probably null |
Het |
| Fyttd1 |
T |
C |
16: 32,725,915 (GRCm39) |
L290S |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,418,917 (GRCm39) |
D472G |
probably damaging |
Het |
| Gjb4 |
C |
T |
4: 127,246,081 (GRCm39) |
|
probably benign |
Het |
| Gm5157 |
G |
T |
7: 20,919,396 (GRCm39) |
T49K |
probably damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
G |
T |
17: 33,896,264 (GRCm39) |
D88E |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Hunk |
C |
T |
16: 90,272,791 (GRCm39) |
T365M |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,354,669 (GRCm39) |
D972G |
probably benign |
Het |
| Mamdc4 |
A |
G |
2: 25,458,273 (GRCm39) |
L379P |
probably damaging |
Het |
| Mcrs1 |
A |
G |
15: 99,146,353 (GRCm39) |
L179P |
probably damaging |
Het |
| Mterf2 |
C |
T |
10: 84,956,295 (GRCm39) |
A110T |
probably benign |
Het |
| Mucl1 |
A |
G |
15: 103,783,934 (GRCm39) |
S91P |
possibly damaging |
Het |
| Ndst4 |
A |
C |
3: 125,476,829 (GRCm39) |
D18A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,058,064 (GRCm39) |
C382* |
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,177,854 (GRCm39) |
K519E |
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,166,991 (GRCm39) |
K747E |
probably benign |
Het |
| Nubp2 |
C |
G |
17: 25,103,374 (GRCm39) |
|
probably null |
Het |
| Odad2 |
G |
T |
18: 7,211,422 (GRCm39) |
C817* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,903,236 (GRCm39) |
V208A |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,878,600 (GRCm39) |
D181E |
possibly damaging |
Het |
| Or7a36 |
T |
G |
10: 78,820,213 (GRCm39) |
D196E |
probably benign |
Het |
| Or7a40 |
A |
G |
16: 16,491,491 (GRCm39) |
M118T |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,977 (GRCm39) |
T135A |
probably benign |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,555 (GRCm39) |
L845R |
probably damaging |
Het |
| Pcdhb14 |
A |
C |
18: 37,581,787 (GRCm39) |
T298P |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,592,547 (GRCm39) |
L957Q |
possibly damaging |
Het |
| Pole |
A |
G |
5: 110,459,959 (GRCm39) |
D1121G |
possibly damaging |
Het |
| Ppp1r3g |
C |
A |
13: 36,153,612 (GRCm39) |
T344K |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,681 (GRCm39) |
K954R |
possibly damaging |
Het |
| Prr15l |
C |
A |
11: 96,825,440 (GRCm39) |
Y23* |
probably null |
Het |
| Sap18b |
A |
G |
8: 96,552,098 (GRCm39) |
E36G |
possibly damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,914,241 (GRCm39) |
F227L |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,550,930 (GRCm39) |
K506N |
|
Het |
| Ssc5d |
C |
A |
7: 4,946,568 (GRCm39) |
T974K |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,545,345 (GRCm39) |
R2491S |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,579 (GRCm39) |
E697G |
unknown |
Het |
| Tmem44 |
A |
T |
16: 30,366,226 (GRCm39) |
F67I |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,278,570 (GRCm39) |
D77G |
possibly damaging |
Het |
| Ttc9 |
A |
G |
12: 81,710,301 (GRCm39) |
I198V |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,550 (GRCm39) |
V11942M |
unknown |
Het |
| Uqcrc2 |
T |
A |
7: 120,237,118 (GRCm39) |
Y55* |
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,273 (GRCm39) |
M209L |
probably benign |
Het |
| Vmn2r50 |
A |
T |
7: 9,771,960 (GRCm39) |
C580* |
probably null |
Het |
| Vmn2r96 |
A |
G |
17: 18,793,758 (GRCm39) |
E34G |
probably benign |
Het |
| Zmynd8 |
C |
T |
2: 165,654,268 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- AAGGCCGGATGCTAATTTCACC -3'
(R):5'- GTCACCATCGTTGCTATGGC -3'
Sequencing Primer
(F):5'- GCCGGATGCTAATTTCACCTTCTATG -3'
(R):5'- ATCGTTGCTATGGCCTGCTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation