Incidental Mutation 'R4723:Myo1d'
| ID |
397164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| MMRRC Submission |
041959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4723 (G1)
|
| Quality Score |
56 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 80670667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
[ENSMUST00000070997]
|
| AlphaFold |
Q5SYD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041065
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
| 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
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
94% (77/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,581,644 (GRCm39) |
D4800G |
probably benign |
Het |
| Akna |
T |
C |
4: 63,305,269 (GRCm39) |
D499G |
probably benign |
Het |
| Arid1b |
A |
C |
17: 5,387,565 (GRCm39) |
I1673L |
probably benign |
Het |
| Bcr |
T |
A |
10: 75,011,161 (GRCm39) |
M24K |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,989,854 (GRCm39) |
V1966A |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,867,227 (GRCm39) |
N928S |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdc6 |
G |
A |
11: 98,799,657 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
A |
T |
8: 13,785,937 (GRCm39) |
N69I |
probably damaging |
Het |
| Cmtm1 |
C |
T |
8: 105,020,307 (GRCm39) |
A371T |
probably damaging |
Het |
| Cmtm7 |
A |
C |
9: 114,592,459 (GRCm39) |
V46G |
possibly damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,906,131 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,720,887 (GRCm39) |
H149R |
unknown |
Het |
| Coro7 |
T |
G |
16: 4,449,858 (GRCm39) |
Q634P |
probably benign |
Het |
| Crym |
A |
G |
7: 119,800,298 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,532,556 (GRCm39) |
F2546L |
probably benign |
Het |
| Dmap1 |
T |
C |
4: 117,533,236 (GRCm39) |
T273A |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,994,899 (GRCm39) |
Y2786C |
probably damaging |
Het |
| Echs1 |
A |
C |
7: 139,690,561 (GRCm39) |
|
probably benign |
Het |
| Edem3 |
T |
A |
1: 151,680,449 (GRCm39) |
F525I |
possibly damaging |
Het |
| Exosc3 |
T |
C |
4: 45,319,642 (GRCm39) |
I127V |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,578,130 (GRCm39) |
D208G |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,508,621 (GRCm39) |
V773A |
probably benign |
Het |
| Gas6 |
A |
G |
8: 13,516,848 (GRCm39) |
V550A |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm2423 |
A |
G |
13: 13,406,961 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
T |
C |
2: 25,184,482 (GRCm39) |
S911G |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,236,133 (GRCm39) |
I470V |
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,593,270 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,048,176 (GRCm39) |
Y519H |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,159,623 (GRCm39) |
M455K |
probably benign |
Het |
| Keap1 |
G |
T |
9: 21,142,706 (GRCm39) |
H516Q |
probably benign |
Het |
| Klk1b27 |
A |
T |
7: 43,705,956 (GRCm39) |
I220F |
probably damaging |
Het |
| Knop1 |
G |
A |
7: 118,455,087 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
T |
C |
17: 89,050,030 (GRCm39) |
T499A |
probably benign |
Het |
| Lrch3 |
A |
T |
16: 32,808,854 (GRCm39) |
|
probably null |
Het |
| Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,648,962 (GRCm39) |
L1652P |
probably damaging |
Het |
| Mbl1 |
T |
C |
14: 40,876,515 (GRCm39) |
V71A |
possibly damaging |
Het |
| Med8 |
T |
A |
4: 118,268,998 (GRCm39) |
M1K |
probably null |
Het |
| Mfsd2b |
A |
G |
12: 4,918,992 (GRCm39) |
L88P |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,588,811 (GRCm39) |
C185S |
probably damaging |
Het |
| Napg |
T |
G |
18: 63,125,563 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
A |
G |
11: 62,269,438 (GRCm39) |
M253T |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,904,321 (GRCm39) |
T518A |
unknown |
Het |
| Obox3-ps8 |
A |
G |
17: 36,764,036 (GRCm39) |
|
noncoding transcript |
Het |
| Opn5 |
A |
T |
17: 42,918,091 (GRCm39) |
M57K |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,028 (GRCm39) |
F195L |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,705,785 (GRCm39) |
K261R |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,696 (GRCm39) |
V270A |
possibly damaging |
Het |
| Pde2a |
C |
G |
7: 101,143,825 (GRCm39) |
P148R |
possibly damaging |
Het |
| Prss56 |
C |
T |
1: 87,113,059 (GRCm39) |
L158F |
possibly damaging |
Het |
| Psmg3 |
G |
A |
5: 139,812,125 (GRCm39) |
|
probably benign |
Het |
| Rnase9 |
C |
T |
14: 51,276,901 (GRCm39) |
G26R |
probably damaging |
Het |
| Skint4 |
T |
C |
4: 111,975,433 (GRCm39) |
V131A |
possibly damaging |
Het |
| Slc10a4 |
T |
A |
5: 73,169,398 (GRCm39) |
V341E |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,741 (GRCm39) |
Y188C |
probably damaging |
Het |
| Slc7a1 |
G |
T |
5: 148,272,250 (GRCm39) |
P476T |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,743,742 (GRCm39) |
C474* |
probably null |
Het |
| Smurf1 |
A |
T |
5: 144,829,994 (GRCm39) |
D336E |
probably damaging |
Het |
| Sox30 |
G |
A |
11: 45,875,592 (GRCm39) |
S448N |
probably benign |
Het |
| Spag11a |
G |
A |
8: 19,209,398 (GRCm39) |
V63I |
possibly damaging |
Het |
| Sprr1b |
T |
G |
3: 92,344,600 (GRCm39) |
K92T |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,610,962 (GRCm39) |
Y20C |
probably benign |
Het |
| Sult2b1 |
T |
A |
7: 45,391,489 (GRCm39) |
Y97F |
probably damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,899,410 (GRCm39) |
P593S |
probably benign |
Het |
| Tek |
T |
C |
4: 94,687,397 (GRCm39) |
V170A |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,500,592 (GRCm39) |
Y891C |
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,920,819 (GRCm39) |
T75A |
possibly damaging |
Het |
| Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,015 (GRCm39) |
H56R |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,602 (GRCm39) |
N367Y |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,589 (GRCm39) |
I36M |
possibly damaging |
Het |
| Zbtb7a |
G |
A |
10: 80,980,274 (GRCm39) |
R156H |
probably 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 |
|
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 |
|
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'- CCCCTAAAGTGCAGTCCTAG -3'
(R):5'- ATGCCCGTGCCTGTCTTTAG -3'
Sequencing Primer
(F):5'- AGTGCAGTCCTAGACCTCATC -3'
(R):5'- CCTGTCTTTAGGGGGCGC -3'
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| Posted On |
2016-06-24 |
Incidental Mutation