Incidental Mutation 'R2512:Myo1d'
| ID |
253483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| MMRRC Submission |
040418-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2512 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80670543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 26
(M26L)
|
| 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: M26L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: M26L
| 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: M26L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: M26L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,219,945 (GRCm39) |
T831A |
possibly damaging |
Het |
| Actg2 |
T |
A |
6: 83,503,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,774,030 (GRCm39) |
T80A |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,078,973 (GRCm39) |
R325H |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,917 (GRCm39) |
P140S |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,708 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
T |
8: 106,424,025 (GRCm39) |
I1293F |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,495 (GRCm39) |
T39A |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,651 (GRCm39) |
T60A |
probably benign |
Het |
| Col15a1 |
T |
A |
4: 47,245,868 (GRCm39) |
N206K |
possibly damaging |
Het |
| Copg2 |
C |
T |
6: 30,873,591 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
G |
7: 110,646,078 (GRCm39) |
I690S |
probably damaging |
Het |
| Dcaf8 |
T |
G |
1: 172,016,602 (GRCm39) |
I463S |
possibly damaging |
Het |
| Dcp1b |
G |
T |
6: 119,183,473 (GRCm39) |
A187S |
possibly damaging |
Het |
| Ddo |
T |
A |
10: 40,508,935 (GRCm39) |
D58E |
possibly damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,157 (GRCm39) |
R137S |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,718 (GRCm39) |
N115S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,856,781 (GRCm39) |
|
probably benign |
Het |
| F11 |
A |
G |
8: 45,714,098 (GRCm39) |
V7A |
probably benign |
Het |
| Fermt1 |
G |
T |
2: 132,781,438 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
T |
2: 63,810,143 (GRCm39) |
F376I |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,082 (GRCm39) |
G370V |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,793,715 (GRCm39) |
D953E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,511 (GRCm39) |
H1610L |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,837,564 (GRCm39) |
N145D |
probably benign |
Het |
| Inpp4b |
G |
T |
8: 82,737,179 (GRCm39) |
W525C |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lgi2 |
A |
G |
5: 52,695,307 (GRCm39) |
*543R |
probably null |
Het |
| Lyn |
A |
G |
4: 3,745,542 (GRCm39) |
T114A |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,169 (GRCm39) |
Y88H |
probably damaging |
Het |
| Map4 |
C |
A |
9: 109,863,770 (GRCm39) |
P332T |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,133,677 (GRCm39) |
C250* |
probably null |
Het |
| Metap1d |
A |
G |
2: 71,352,954 (GRCm39) |
H261R |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,013,835 (GRCm39) |
V115A |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,440,932 (GRCm39) |
Y373C |
probably damaging |
Het |
| Mtor |
C |
A |
4: 148,614,948 (GRCm39) |
R1628S |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,813 (GRCm39) |
N1920D |
unknown |
Het |
| Neb |
A |
C |
2: 52,100,843 (GRCm39) |
D643E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,851,513 (GRCm39) |
F108L |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,207 (GRCm39) |
S249P |
probably damaging |
Het |
| Or8c15 |
G |
T |
9: 38,120,670 (GRCm39) |
C54F |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,140,326 (GRCm39) |
D82E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,612 (GRCm39) |
D3695G |
unknown |
Het |
| Pcnx4 |
A |
T |
12: 72,603,573 (GRCm39) |
|
probably null |
Het |
| Plg |
A |
G |
17: 12,622,116 (GRCm39) |
T479A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,547,195 (GRCm39) |
M246L |
probably damaging |
Het |
| Ptgis |
T |
C |
2: 167,049,196 (GRCm39) |
D372G |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,949 (GRCm39) |
T14A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,195,508 (GRCm39) |
V230D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,184,688 (GRCm39) |
D1609G |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,967 (GRCm39) |
L696F |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,440,529 (GRCm39) |
D858E |
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,329,037 (GRCm39) |
V993I |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,487,616 (GRCm39) |
I901F |
unknown |
Het |
| Slc17a3 |
A |
T |
13: 24,030,230 (GRCm39) |
I114F |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,288 (GRCm39) |
L71Q |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,461,403 (GRCm39) |
S452P |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,994 (GRCm39) |
N173S |
possibly damaging |
Het |
| Tbc1d21 |
T |
C |
9: 58,270,195 (GRCm39) |
Y161C |
probably damaging |
Het |
| Tpsab1 |
C |
A |
17: 25,564,081 (GRCm39) |
C94F |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 38,002,563 (GRCm39) |
P1496L |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,710,767 (GRCm39) |
A2679S |
possibly damaging |
Het |
| Vdac1 |
T |
A |
11: 52,274,904 (GRCm39) |
V184E |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,985 (GRCm39) |
S287R |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,048 (GRCm39) |
F572L |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,884,701 (GRCm39) |
E3125K |
probably benign |
Het |
| Ythdf3 |
A |
G |
3: 16,259,059 (GRCm39) |
N406S |
possibly damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,251 (GRCm39) |
K158E |
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 |
|
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 |
|
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'- TAGACCTCATCACACCCTGGAG -3'
(R):5'- ATGCCCGTGCCTGTCTTTAG -3'
Sequencing Primer
(F):5'- GCCGCACCAAGGAAGAGTC -3'
(R):5'- AGCTCTGAGGAGTGGCG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation