Incidental Mutation 'R6235:Myo1d'
| ID |
504887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
9930104H07Rik, D11Ertd9e |
| MMRRC Submission |
044433-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80482126-80780025 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80692944 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 81
(I81V)
|
| 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: I81V
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: I81V
| 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: I81V
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: I81V
| 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
|
| Meta Mutation Damage Score |
0.2018 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (73/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
G |
8: 43,625,912 (GRCm38) |
N425T |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,491,710 (GRCm38) |
F716L |
probably benign |
Het |
| Akip1 |
A |
G |
7: 109,707,413 (GRCm38) |
M106V |
probably benign |
Het |
| Aldh1l1 |
A |
T |
6: 90,564,457 (GRCm38) |
I278F |
probably benign |
Het |
| Aplnr |
A |
G |
2: 85,137,626 (GRCm38) |
T332A |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,398,113 (GRCm38) |
V197A |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,069,772 (GRCm38) |
|
probably null |
Het |
| Baiap2 |
A |
T |
11: 119,981,408 (GRCm38) |
N99Y |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,471,792 (GRCm38) |
|
probably null |
Het |
| Cep78 |
T |
C |
19: 15,976,486 (GRCm38) |
|
probably null |
Het |
| Cldn3 |
T |
C |
5: 134,986,719 (GRCm38) |
F92S |
possibly damaging |
Het |
| Clec16a |
C |
A |
16: 10,694,635 (GRCm38) |
P812Q |
probably damaging |
Het |
| Cnga4 |
T |
G |
7: 105,407,699 (GRCm38) |
Y336* |
probably null |
Het |
| Copg2 |
A |
G |
6: 30,816,071 (GRCm38) |
I443T |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,443,850 (GRCm38) |
A81S |
probably damaging |
Het |
| Csad |
A |
T |
15: 102,178,606 (GRCm38) |
V410D |
probably damaging |
Het |
| Ctps1 |
G |
A |
4: 120,558,806 (GRCm38) |
L207F |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,723,087 (GRCm38) |
E1003G |
probably damaging |
Het |
| Ddx31 |
C |
G |
2: 28,844,842 (GRCm38) |
A5G |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,854,804 (GRCm38) |
I3004F |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,980,904 (GRCm38) |
|
probably benign |
Het |
| Fbxw28 |
C |
A |
9: 109,326,190 (GRCm38) |
W356C |
probably damaging |
Het |
| Gimap6 |
G |
T |
6: 48,702,457 (GRCm38) |
T215K |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,262,939 (GRCm38) |
E702K |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,432,706 (GRCm38) |
I152V |
probably damaging |
Het |
| Itk |
T |
C |
11: 46,336,428 (GRCm38) |
E456G |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,543,094 (GRCm38) |
A22V |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,411,880 (GRCm38) |
V204A |
probably damaging |
Het |
| Lipo1 |
A |
G |
19: 33,783,563 (GRCm38) |
Y140H |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,588,177 (GRCm38) |
R809W |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 104,016,068 (GRCm38) |
G1111D |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,158,408 (GRCm38) |
V47E |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,385,281 (GRCm38) |
E140G |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,821,113 (GRCm38) |
Y26* |
probably null |
Het |
| Ntng2 |
C |
A |
2: 29,227,979 (GRCm38) |
E152D |
probably damaging |
Het |
| Or10w1 |
C |
A |
19: 13,654,781 (GRCm38) |
C117* |
probably null |
Het |
| Or5m9b |
T |
C |
2: 86,075,166 (GRCm38) |
L142P |
possibly damaging |
Het |
| Otud3 |
A |
T |
4: 138,901,901 (GRCm38) |
V185D |
probably damaging |
Het |
| Parp6 |
C |
T |
9: 59,630,815 (GRCm38) |
R248W |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,716,430 (GRCm38) |
T497A |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 35,873,877 (GRCm38) |
E140G |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,247,945 (GRCm38) |
L151P |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,722,316 (GRCm38) |
E572K |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,635,338 (GRCm38) |
T1401S |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,457,516 (GRCm38) |
T480A |
possibly damaging |
Het |
| Rax |
T |
A |
18: 65,935,161 (GRCm38) |
Q291L |
unknown |
Het |
| Reck |
T |
C |
4: 43,937,450 (GRCm38) |
L734P |
probably damaging |
Het |
| Rgmb |
A |
G |
17: 15,820,819 (GRCm38) |
F169L |
probably damaging |
Het |
| Rhobtb3 |
T |
C |
13: 75,892,910 (GRCm38) |
I426M |
probably damaging |
Het |
| Ring1 |
C |
A |
17: 34,023,306 (GRCm38) |
A76S |
probably damaging |
Het |
| Robo3 |
T |
G |
9: 37,420,929 (GRCm38) |
Y891S |
probably damaging |
Het |
| Rpusd2 |
A |
G |
2: 119,034,857 (GRCm38) |
I12V |
probably benign |
Het |
| Rragd |
T |
C |
4: 32,995,985 (GRCm38) |
V165A |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,579,909 (GRCm38) |
|
probably benign |
Homo |
| Ryr1 |
G |
T |
7: 29,116,181 (GRCm38) |
Q95K |
probably benign |
Het |
| S1pr4 |
T |
A |
10: 81,498,882 (GRCm38) |
N253Y |
possibly damaging |
Het |
| Scn3a |
A |
C |
2: 65,461,335 (GRCm38) |
V1689G |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,973,673 (GRCm38) |
N147D |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,034,426 (GRCm38) |
H913L |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,266,532 (GRCm38) |
M232K |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 125,474,871 (GRCm38) |
V646E |
probably damaging |
Het |
| Slc38a1 |
A |
T |
15: 96,578,792 (GRCm38) |
I396N |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,302,794 (GRCm38) |
E42D |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,713,546 (GRCm38) |
V4442M |
probably damaging |
Het |
| Sumo3 |
T |
A |
10: 77,616,237 (GRCm38) |
|
probably benign |
Het |
| Syngap1 |
A |
G |
17: 26,958,130 (GRCm38) |
I356V |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,284,054 (GRCm38) |
Q112* |
probably null |
Het |
| Tdp2 |
T |
A |
13: 24,840,395 (GRCm38) |
L225* |
probably null |
Het |
| Tmprss7 |
A |
G |
16: 45,658,122 (GRCm38) |
V747A |
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 86,906,364 (GRCm38) |
Y186F |
probably benign |
Het |
| Usp37 |
G |
T |
1: 74,475,133 (GRCm38) |
S293* |
probably null |
Het |
| Vmn1r36 |
A |
G |
6: 66,716,246 (GRCm38) |
I109T |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,468,972 (GRCm38) |
V798E |
probably benign |
Het |
| Zfp36l1 |
G |
T |
12: 80,112,822 (GRCm38) |
C18* |
probably null |
Het |
| Zfp959 |
T |
C |
17: 55,897,427 (GRCm38) |
Y152H |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,249,599 (GRCm38) |
C1949S |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 13,261,603 (GRCm38) |
E209V |
probably damaging |
Het |
|
| Other mutations in Myo1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Myo1d
|
APN |
11 |
80,601,740 (GRCm38) |
missense |
probably benign |
|
|
IGL01087:Myo1d
|
APN |
11 |
80,682,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01326:Myo1d
|
APN |
11 |
80,684,321 (GRCm38) |
splice site |
probably benign |
|
|
IGL01431:Myo1d
|
APN |
11 |
80,674,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01595:Myo1d
|
APN |
11 |
80,676,110 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01811:Myo1d
|
APN |
11 |
80,692,997 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02301:Myo1d
|
APN |
11 |
80,676,853 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02388:Myo1d
|
APN |
11 |
80,637,997 (GRCm38) |
nonsense |
probably null |
|
|
IGL02485:Myo1d
|
APN |
11 |
80,666,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03017:Myo1d
|
APN |
11 |
80,601,626 (GRCm38) |
missense |
probably benign |
0.26 |
|
horton
|
UTSW |
11 |
80,674,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
multifaceted
|
UTSW |
11 |
80,693,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whisper
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
whisper2
|
UTSW |
11 |
80,666,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whisper3
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,637,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,637,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0081:Myo1d
|
UTSW |
11 |
80,557,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0096:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0096:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0244:Myo1d
|
UTSW |
11 |
80,674,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0711:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0746:Myo1d
|
UTSW |
11 |
80,586,879 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1084:Myo1d
|
UTSW |
11 |
80,684,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Myo1d
|
UTSW |
11 |
80,685,908 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1676:Myo1d
|
UTSW |
11 |
80,684,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Myo1d
|
UTSW |
11 |
80,663,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2497:Myo1d
|
UTSW |
11 |
80,674,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2512:Myo1d
|
UTSW |
11 |
80,779,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3425:Myo1d
|
UTSW |
11 |
80,601,638 (GRCm38) |
missense |
probably benign |
|
|
R3429:Myo1d
|
UTSW |
11 |
80,682,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3917:Myo1d
|
UTSW |
11 |
80,666,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3928:Myo1d
|
UTSW |
11 |
80,484,261 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4706:Myo1d
|
UTSW |
11 |
80,666,641 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4723:Myo1d
|
UTSW |
11 |
80,779,841 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4924:Myo1d
|
UTSW |
11 |
80,674,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5042:Myo1d
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5320:Myo1d
|
UTSW |
11 |
80,684,323 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5481:Myo1d
|
UTSW |
11 |
80,663,095 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6214:Myo1d
|
UTSW |
11 |
80,779,791 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
|
R6282:Myo1d
|
UTSW |
11 |
80,557,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6468:Myo1d
|
UTSW |
11 |
80,557,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6668:Myo1d
|
UTSW |
11 |
80,583,875 (GRCm38) |
intron |
probably benign |
|
|
R6954:Myo1d
|
UTSW |
11 |
80,674,957 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7077:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7078:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7080:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7172:Myo1d
|
UTSW |
11 |
80,592,795 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7276:Myo1d
|
UTSW |
11 |
80,693,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7467:Myo1d
|
UTSW |
11 |
80,586,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7650:Myo1d
|
UTSW |
11 |
80,601,684 (GRCm38) |
missense |
probably benign |
|
|
R7678:Myo1d
|
UTSW |
11 |
80,676,893 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7859:Myo1d
|
UTSW |
11 |
80,684,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8324:Myo1d
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8329:Myo1d
|
UTSW |
11 |
80,638,074 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8474:Myo1d
|
UTSW |
11 |
80,670,919 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8799:Myo1d
|
UTSW |
11 |
80,684,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8810:Myo1d
|
UTSW |
11 |
80,676,932 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8810:Myo1d
|
UTSW |
11 |
80,674,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8823:Myo1d
|
UTSW |
11 |
80,601,745 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9221:Myo1d
|
UTSW |
11 |
80,674,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9494:Myo1d
|
UTSW |
11 |
80,484,267 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9625:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9626:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9628:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1088:Myo1d
|
UTSW |
11 |
80,674,898 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGCAAGTATAATGTGGAC -3'
(R):5'- ACCACAGCAACCTTTTGTTC -3'
Sequencing Primer
(F):5'- GAGAGTTCATGCAATCCTCCTG -3'
(R):5'- CTTGCTTCTGTGCAGATTTGAGAAAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation