Incidental Mutation 'R9221:Myo1d'
| ID |
699479 |
| 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 # |
R9221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80565744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 360
(N360K)
|
| 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: N360K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: N360K
| 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: N360K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: N360K
| 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: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,921,828 (GRCm39) |
D1128G |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,368,131 (GRCm39) |
R116* |
probably null |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,989,943 (GRCm39) |
D3742E |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,528,818 (GRCm39) |
S598P |
possibly damaging |
Het |
| Asxl2 |
T |
C |
12: 3,552,310 (GRCm39) |
F1351L |
probably damaging |
Het |
| Atg7 |
C |
T |
6: 114,672,588 (GRCm39) |
T267I |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,209,692 (GRCm39) |
K202R |
probably benign |
Het |
| Bccip |
G |
T |
7: 133,311,249 (GRCm39) |
V55L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,988,052 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,777,430 (GRCm39) |
Y466H |
probably damaging |
Het |
| Cdc45 |
A |
C |
16: 18,605,521 (GRCm39) |
S480A |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,935,839 (GRCm39) |
Y425H |
possibly damaging |
Het |
| Cep76 |
A |
C |
18: 67,767,977 (GRCm39) |
M185R |
probably damaging |
Het |
| Chd5 |
G |
T |
4: 152,456,122 (GRCm39) |
M930I |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,343,395 (GRCm39) |
T684K |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,491,943 (GRCm39) |
N1270S |
possibly damaging |
Het |
| Crxos |
A |
G |
7: 15,636,850 (GRCm39) |
H141R |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,433 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ddx20 |
A |
T |
3: 105,587,685 (GRCm39) |
C430* |
probably null |
Het |
| Dgki |
G |
A |
6: 37,273,615 (GRCm39) |
T12M |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,721,153 (GRCm39) |
N1676S |
possibly damaging |
Het |
| Exosc6 |
G |
A |
8: 111,783,028 (GRCm39) |
R9H |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,569,114 (GRCm39) |
Q589R |
probably damaging |
Het |
| Gm4846 |
T |
A |
1: 166,324,959 (GRCm39) |
Y44F |
probably benign |
Het |
| Gpr15lg |
A |
G |
14: 36,829,352 (GRCm39) |
S44P |
probably damaging |
Het |
| Gtf3c2 |
A |
C |
5: 31,326,401 (GRCm39) |
I370R |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,287,726 (GRCm39) |
M3696V |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,166,695 (GRCm39) |
C167* |
probably null |
Het |
| Khdc4 |
T |
C |
3: 88,593,853 (GRCm39) |
S81P |
probably benign |
Het |
| Kpna2 |
A |
G |
11: 106,880,158 (GRCm39) |
S497P |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,774,064 (GRCm39) |
T197S |
probably damaging |
Het |
| Krtap6-5 |
T |
C |
16: 88,844,655 (GRCm39) |
Y26C |
unknown |
Het |
| Lhfpl5 |
A |
T |
17: 28,799,133 (GRCm39) |
D214V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,596 (GRCm39) |
E351G |
probably damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,403,427 (GRCm39) |
V867A |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,650,879 (GRCm39) |
M1529L |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,132,626 (GRCm39) |
Q268L |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
A |
T |
11: 73,738,108 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,255 (GRCm39) |
S229G |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,336 (GRCm39) |
M285K |
probably damaging |
Het |
| Or5m11 |
T |
A |
2: 85,782,185 (GRCm39) |
Y259* |
probably null |
Het |
| P2rx5 |
A |
T |
11: 73,062,655 (GRCm39) |
T455S |
probably damaging |
Het |
| Palld |
A |
T |
8: 61,969,591 (GRCm39) |
F1244L |
unknown |
Het |
| Pbld1 |
A |
G |
10: 62,907,829 (GRCm39) |
T125A |
|
Het |
| Pde3b |
G |
A |
7: 114,014,697 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,019,188 (GRCm39) |
S180P |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,100,453 (GRCm39) |
R626S |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,282,515 (GRCm39) |
E492G |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,230,818 (GRCm39) |
D237G |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,604 (GRCm39) |
H105R |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,242,401 (GRCm39) |
N685S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,315,266 (GRCm39) |
F502S |
unknown |
Het |
| Sik1 |
T |
C |
17: 32,066,167 (GRCm39) |
I607V |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,513,470 (GRCm39) |
I464N |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,825,910 (GRCm39) |
N116S |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,181,910 (GRCm39) |
|
probably null |
Het |
| Spink5 |
T |
C |
18: 44,119,367 (GRCm39) |
L226P |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,034,754 (GRCm39) |
V180I |
probably benign |
Het |
| Tacc2 |
T |
G |
7: 130,226,058 (GRCm39) |
S914R |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,226,209 (GRCm39) |
R965C |
probably benign |
Het |
| Tlr9 |
A |
G |
9: 106,101,972 (GRCm39) |
D421G |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,307,265 (GRCm39) |
L16P |
probably damaging |
Het |
| Trim58 |
A |
T |
11: 58,542,075 (GRCm39) |
H345L |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,290 (GRCm39) |
R688C |
probably benign |
Het |
| Ube2o |
C |
A |
11: 116,433,664 (GRCm39) |
V685L |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,335,173 (GRCm39) |
H511R |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,721 (GRCm39) |
Y282* |
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 |
|
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'- GGGAATAGGTGATGTGCATTCTAATC -3'
Sequencing Primer
(F):5'- CTCAAAGCTACAGGAGACAGAAAATG -3'
(R):5'- GGTGATGTGCATTCTAATCATTCTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation