Incidental Mutation 'R3928:Myo1d'
| ID |
308382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
D11Ertd9e, 9930104H07Rik |
| MMRRC Submission |
040823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3928 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80372952-80670851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80375087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 996
(R996S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
[ENSMUST00000053413]
|
| AlphaFold |
Q5SYD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041065
AA Change: R996S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: R996S
| 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: ENSMUST00000053413
|
| SMART Domains |
Protein: ENSMUSP00000099514
Gene: ENSMUSG00000048895
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDK5_activator
|
69 |
294 |
1.6e-100 |
PFAM |
|
| Meta Mutation Damage Score |
0.1137 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
T |
11: 76,359,561 (GRCm39) |
H181Q |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,552,155 (GRCm39) |
F108S |
probably damaging |
Het |
| Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
| Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,061,880 (GRCm39) |
I242T |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
| Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
| Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
| H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
| Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
| Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
| Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
| Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
| Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
| Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
| Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
| Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
| Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
| Tdrd5 |
G |
A |
1: 156,128,348 (GRCm39) |
T136I |
probably benign |
Het |
| Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
| Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
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 |
|
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'- AGCTGATTTCTAGTGGCATTAGAG -3'
(R):5'- CTGAGGGTTGCCAAGGAAAC -3'
Sequencing Primer
(F):5'- ATTTCTAGTGGCATTAGAGGGCAGAC -3'
(R):5'- GTTGCCAAGGAAACCACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation