Incidental Mutation 'R7172:Myo1d'
| ID |
558366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| MMRRC Submission |
045264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80483621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 863
(V863I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
[ENSMUST00000070997]
|
| AlphaFold |
Q5SYD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041065
AA Change: V863I
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: V863I
| 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 benign
Transcript: ENSMUST00000070997
AA Change: V863I
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: V863I
| 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 |
|
| Meta Mutation Damage Score |
0.1846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
A |
T |
2: 122,480,238 (GRCm39) |
Y33F |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,897,189 (GRCm39) |
Q623* |
probably null |
Het |
| Abcb1a |
A |
T |
5: 8,752,399 (GRCm39) |
I457F |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,200,869 (GRCm39) |
Q716* |
probably null |
Het |
| Abhd15 |
T |
C |
11: 77,406,122 (GRCm39) |
V33A |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,157 (GRCm39) |
D108G |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 90,030,860 (GRCm39) |
|
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,281 (GRCm39) |
V314L |
probably damaging |
Het |
| Axl |
G |
T |
7: 25,486,399 (GRCm39) |
Q102K |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,851,841 (GRCm39) |
S488P |
possibly damaging |
Het |
| Cnn1 |
C |
A |
9: 22,016,790 (GRCm39) |
A126D |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,363,981 (GRCm39) |
K537* |
probably null |
Het |
| Cxcl2 |
A |
G |
5: 91,051,879 (GRCm39) |
T26A |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,931,957 (GRCm39) |
K3672* |
probably null |
Het |
| Fadd |
G |
T |
7: 144,135,908 (GRCm39) |
H73Q |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,828 (GRCm39) |
N1095D |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,218,603 (GRCm39) |
S789P |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,431,339 (GRCm39) |
V289I |
probably benign |
Het |
| Gm17728 |
A |
C |
17: 9,641,220 (GRCm39) |
D110A |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,933,429 (GRCm39) |
S45T |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,917,049 (GRCm39) |
S161P |
possibly damaging |
Het |
| Gpr89 |
C |
T |
3: 96,787,385 (GRCm39) |
|
probably null |
Het |
| Gps2 |
C |
T |
11: 69,807,262 (GRCm39) |
T306I |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,629,450 (GRCm39) |
Y936H |
possibly damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,276 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ifit2 |
G |
T |
19: 34,550,894 (GRCm39) |
A145S |
probably benign |
Het |
| Impdh2 |
G |
T |
9: 108,437,809 (GRCm39) |
C26F |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,100 (GRCm39) |
Y552H |
possibly damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,576,691 (GRCm39) |
M254K |
probably damaging |
Het |
| Klhdc9 |
A |
T |
1: 171,188,228 (GRCm39) |
M1K |
probably null |
Het |
| Klk1b11 |
A |
T |
7: 43,648,671 (GRCm39) |
D194V |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,540 (GRCm39) |
I2264V |
|
Het |
| Lmntd2 |
A |
G |
7: 140,793,554 (GRCm39) |
S111P |
unknown |
Het |
| Megf8 |
T |
C |
7: 25,043,092 (GRCm39) |
L1338P |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,321 (GRCm39) |
E127K |
possibly damaging |
Het |
| Mmp25 |
A |
T |
17: 23,863,762 (GRCm39) |
C23S |
probably benign |
Het |
| Mup8 |
A |
T |
4: 60,222,425 (GRCm39) |
C15* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,079,527 (GRCm39) |
T995S |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,052 (GRCm39) |
|
probably null |
Het |
| Nat10 |
G |
T |
2: 103,563,314 (GRCm39) |
P562T |
probably damaging |
Het |
| Nedd9 |
C |
G |
13: 41,470,280 (GRCm39) |
R291P |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,781,617 (GRCm39) |
H613Q |
probably benign |
Het |
| Ntn1 |
A |
T |
11: 68,276,493 (GRCm39) |
C152S |
probably damaging |
Het |
| Or2av9 |
T |
A |
11: 58,380,571 (GRCm39) |
I337F |
unknown |
Het |
| Pam |
A |
T |
1: 97,762,203 (GRCm39) |
D793E |
probably benign |
Het |
| Patz1 |
T |
G |
11: 3,258,032 (GRCm39) |
V631G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,338,597 (GRCm39) |
V1068M |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,193 (GRCm39) |
V230A |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,752,343 (GRCm39) |
F151S |
possibly damaging |
Het |
| Pygo2 |
G |
A |
3: 89,339,943 (GRCm39) |
V114I |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,156 (GRCm39) |
S220R |
probably benign |
Het |
| Rdh7 |
T |
G |
10: 127,724,218 (GRCm39) |
S89R |
possibly damaging |
Het |
| Rgsl1 |
A |
C |
1: 153,701,966 (GRCm39) |
W163G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,002 (GRCm39) |
N3783I |
probably damaging |
Het |
| Shld2 |
G |
A |
14: 33,959,525 (GRCm39) |
T819I |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,623,105 (GRCm39) |
L644P |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,732,896 (GRCm39) |
S43P |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,315,420 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,390 (GRCm39) |
M686V |
probably damaging |
Het |
| Tdrp |
G |
A |
8: 14,024,579 (GRCm39) |
R22* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,903,946 (GRCm39) |
V598A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,994 (GRCm39) |
E1994G |
probably damaging |
Het |
| Trcg1 |
T |
A |
9: 57,155,618 (GRCm39) |
V757E |
probably benign |
Het |
| Trim10 |
A |
G |
17: 37,180,955 (GRCm39) |
E62G |
possibly damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,841,410 (GRCm39) |
A473E |
possibly damaging |
Het |
| Vmn1r50 |
A |
C |
6: 90,084,386 (GRCm39) |
K44Q |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,838,294 (GRCm39) |
N68D |
probably damaging |
Het |
| Wdr83 |
A |
G |
8: 85,806,453 (GRCm39) |
V115A |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,845,809 (GRCm39) |
L28P |
possibly damaging |
Het |
| Zfp738 |
C |
T |
13: 67,818,527 (GRCm39) |
C488Y |
probably damaging |
Het |
| Zfp987 |
T |
G |
4: 146,058,572 (GRCm39) |
L50W |
probably damaging |
Het |
| Zfyve28 |
G |
T |
5: 34,391,753 (GRCm39) |
R133S |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,469 (GRCm39) |
C1007* |
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 |
|
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'- AGGGAGGCTTTATTAACACAACTC -3'
(R):5'- AGTCTAACATCTTGGCGGGAAG -3'
Sequencing Primer
(F):5'- TCTAAATTGTCCAGTCAGGCTCCAAG -3'
(R):5'- AGGATGCATGTGAAGCTGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation