Incidental Mutation 'R4924:Myo1d'
| ID |
378881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| MMRRC Submission |
042526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80565504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 411
(F411S)
|
| 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: F411S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: F411S
| 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: F411S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: F411S
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,902,351 (GRCm39) |
H625Y |
probably damaging |
Het |
| Adamts4 |
C |
T |
1: 171,086,643 (GRCm39) |
R812W |
probably damaging |
Het |
| Ajuba |
A |
C |
14: 54,809,056 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,344,503 (GRCm39) |
V532D |
probably damaging |
Het |
| Arpc1b |
G |
A |
5: 145,063,625 (GRCm39) |
S295N |
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,887,850 (GRCm39) |
S335G |
probably damaging |
Het |
| Brap |
T |
G |
5: 121,803,318 (GRCm39) |
N155K |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,396 (GRCm39) |
|
probably benign |
Het |
| Ccl12 |
G |
A |
11: 81,993,475 (GRCm39) |
V38I |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,602,146 (GRCm39) |
Y881C |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 90,989,174 (GRCm39) |
|
silent |
Het |
| Chd5 |
A |
C |
4: 152,450,886 (GRCm39) |
D670A |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 117,983,994 (GRCm39) |
Y52H |
probably benign |
Het |
| Dmtn |
A |
G |
14: 70,855,399 (GRCm39) |
I30T |
probably benign |
Het |
| Dscaml1 |
T |
A |
9: 45,656,487 (GRCm39) |
M1609K |
probably damaging |
Het |
| Edar |
C |
A |
10: 58,465,197 (GRCm39) |
E55D |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,729,734 (GRCm39) |
I601N |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,055,572 (GRCm39) |
N705K |
probably benign |
Het |
| Gm21718 |
G |
T |
14: 51,550,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaz |
A |
G |
10: 74,827,545 (GRCm39) |
D99G |
probably benign |
Het |
| Helz |
G |
A |
11: 107,493,165 (GRCm39) |
G196D |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,331 (GRCm39) |
S341P |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,311,792 (GRCm39) |
S1344I |
probably benign |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Ift81 |
A |
G |
5: 122,732,679 (GRCm39) |
L285S |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,849,253 (GRCm39) |
N891K |
probably damaging |
Het |
| Irx6 |
C |
T |
8: 93,404,981 (GRCm39) |
T283M |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,559,089 (GRCm39) |
K1538E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 47,083,075 (GRCm39) |
V8A |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,036 (GRCm39) |
N34K |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 27,245,137 (GRCm39) |
I215L |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,900,328 (GRCm39) |
R58H |
possibly damaging |
Het |
| Lvrn |
C |
T |
18: 47,027,792 (GRCm39) |
P869L |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,828,455 (GRCm39) |
H702Q |
probably benign |
Het |
| Nat8f4 |
G |
T |
6: 85,878,401 (GRCm39) |
Q41K |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,765 (GRCm39) |
E596* |
probably null |
Het |
| Nek10 |
T |
A |
14: 14,846,594 (GRCm38) |
|
probably null |
Het |
| Notch3 |
T |
C |
17: 32,363,705 (GRCm39) |
Y1145C |
probably damaging |
Het |
| Nr4a2 |
A |
T |
2: 57,002,035 (GRCm39) |
H76Q |
probably benign |
Het |
| Nup98 |
T |
C |
7: 101,784,185 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Or4k48 |
A |
T |
2: 111,476,121 (GRCm39) |
S74T |
possibly damaging |
Het |
| Or5k1b |
T |
A |
16: 58,580,982 (GRCm39) |
R186* |
probably null |
Het |
| Or8k33 |
A |
T |
2: 86,383,853 (GRCm39) |
F205Y |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,720,409 (GRCm39) |
Y231H |
probably benign |
Het |
| Plagl1 |
G |
T |
10: 13,003,301 (GRCm39) |
A190S |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,268,269 (GRCm39) |
I345N |
probably damaging |
Het |
| Pnmt |
A |
G |
11: 98,278,286 (GRCm39) |
E120G |
probably damaging |
Het |
| Prkrip1 |
C |
A |
5: 136,227,797 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,443,754 (GRCm39) |
A572T |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,807,400 (GRCm39) |
F39L |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,328,268 (GRCm39) |
H388R |
probably benign |
Het |
| Scn4a |
G |
T |
11: 106,210,914 (GRCm39) |
A1701E |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,748,584 (GRCm39) |
W616L |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,357,729 (GRCm39) |
S218T |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,309,297 (GRCm39) |
R87H |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,785,998 (GRCm39) |
L284M |
probably damaging |
Het |
| Smok3c |
G |
T |
5: 138,063,844 (GRCm39) |
E444* |
probably null |
Het |
| Snx4 |
T |
C |
16: 33,115,100 (GRCm39) |
V427A |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,151,684 (GRCm39) |
V304E |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,678,808 (GRCm39) |
H243L |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,049,737 (GRCm39) |
V14A |
probably damaging |
Het |
| Sv2b |
T |
A |
7: 74,786,169 (GRCm39) |
Y417F |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,161 (GRCm39) |
Y302H |
probably benign |
Het |
| Thop1 |
T |
C |
10: 80,916,028 (GRCm39) |
S404P |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,051,701 (GRCm39) |
C988* |
probably null |
Het |
| Tsbp1 |
C |
T |
17: 34,678,951 (GRCm39) |
P221L |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,836,269 (GRCm39) |
E630G |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,718 (GRCm39) |
S733P |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,189 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,882 (GRCm39) |
H32L |
probably benign |
Het |
| Wnt2 |
A |
G |
6: 18,023,239 (GRCm39) |
C137R |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,980,871 (GRCm39) |
S489P |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,033 (GRCm39) |
C418R |
probably damaging |
Het |
| Zfp946 |
T |
G |
17: 22,674,502 (GRCm39) |
F419V |
probably damaging |
Het |
| Zfp994 |
C |
T |
17: 22,419,738 (GRCm39) |
E404K |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,347 (GRCm39) |
V304A |
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 |
|
|
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'- GAGTGAACTTTGAGCGATGC -3'
(R):5'- ATGACACCACGATACATGGG -3'
Sequencing Primer
(F):5'- TGAGCGATGCTACCCTCTGATAG -3'
(R):5'- GAAAAACACGGTTATTGGTGTCTTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation