Incidental Mutation 'IGL02429:Myo1h'
ID |
293073 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myo1h
|
Ensembl Gene |
ENSMUSG00000066952 |
Gene Name |
myosin 1H |
Synonyms |
4631401O15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02429
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 114497799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102581]
[ENSMUST00000124316]
[ENSMUST00000134532]
[ENSMUST00000169347]
[ENSMUST00000196467]
[ENSMUST00000196676]
[ENSMUST00000202006]
[ENSMUST00000199567]
|
AlphaFold |
Q9D6A1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102581
|
SMART Domains |
Protein: ENSMUSP00000099641 Gene: ENSMUSG00000001098
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
BTB
|
32 |
132 |
6.89e-19 |
SMART |
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124316
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952
Domain | Start | End | E-Value | Type |
MYSc
|
5 |
692 |
N/A |
SMART |
IQ
|
693 |
715 |
1.21e1 |
SMART |
IQ
|
716 |
738 |
6.6e-2 |
SMART |
Pfam:Myosin_TH1
|
833 |
1015 |
5.8e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134532
|
SMART Domains |
Protein: ENSMUSP00000138564 Gene: ENSMUSG00000001098
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
Pfam:BTB_2
|
34 |
89 |
2.8e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152694
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169347
|
SMART Domains |
Protein: ENSMUSP00000132905 Gene: ENSMUSG00000066952
Domain | Start | End | E-Value | Type |
MYSc
|
5 |
692 |
N/A |
SMART |
IQ
|
693 |
715 |
1.21e1 |
SMART |
IQ
|
716 |
738 |
6.6e-2 |
SMART |
Pfam:Myosin_TH1
|
834 |
1013 |
2.3e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196467
|
SMART Domains |
Protein: ENSMUSP00000144133 Gene: ENSMUSG00000066952
Domain | Start | End | E-Value | Type |
Blast:MYSc
|
1 |
52 |
7e-10 |
BLAST |
Pfam:Myosin_TH1
|
70 |
181 |
1.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196676
|
SMART Domains |
Protein: ENSMUSP00000144682 Gene: ENSMUSG00000066952
Domain | Start | End | E-Value | Type |
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202006
|
SMART Domains |
Protein: ENSMUSP00000144110 Gene: ENSMUSG00000066952
Domain | Start | End | E-Value | Type |
MYSc
|
5 |
692 |
N/A |
SMART |
IQ
|
693 |
715 |
1.21e1 |
SMART |
IQ
|
716 |
738 |
6.6e-2 |
SMART |
Pfam:Myosin_TH1
|
834 |
1013 |
2.3e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199567
|
SMART Domains |
Protein: ENSMUSP00000144492 Gene: ENSMUSG00000066952
Domain | Start | End | E-Value | Type |
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197773
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
A |
T |
1: 127,687,453 (GRCm39) |
D245V |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,935,289 (GRCm39) |
|
probably benign |
Het |
Arhgap36 |
A |
G |
X: 48,583,583 (GRCm39) |
D77G |
possibly damaging |
Het |
Asap1 |
A |
T |
15: 64,039,589 (GRCm39) |
M187K |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,407,548 (GRCm39) |
V2145A |
probably benign |
Het |
Ccn6 |
T |
C |
10: 39,030,989 (GRCm39) |
N178S |
probably benign |
Het |
Cd46 |
T |
C |
1: 194,767,732 (GRCm39) |
T110A |
probably benign |
Het |
Chl1 |
T |
A |
6: 103,641,770 (GRCm39) |
|
probably benign |
Het |
Clca3b |
A |
G |
3: 144,533,896 (GRCm39) |
L493S |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,261,266 (GRCm39) |
T72M |
probably damaging |
Het |
Cyfip1 |
T |
A |
7: 55,521,730 (GRCm39) |
|
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,302,390 (GRCm39) |
|
probably benign |
Het |
Glyr1 |
A |
G |
16: 4,837,240 (GRCm39) |
M397T |
probably benign |
Het |
Golm2 |
A |
G |
2: 121,742,468 (GRCm39) |
T306A |
probably benign |
Het |
Gtf2a1l |
G |
T |
17: 88,976,141 (GRCm39) |
M1I |
probably null |
Het |
Hdac4 |
A |
G |
1: 91,940,417 (GRCm39) |
L154P |
probably benign |
Het |
Ints8 |
A |
T |
4: 11,231,720 (GRCm39) |
C422S |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,830,829 (GRCm39) |
K160I |
probably damaging |
Het |
Lrrc23 |
C |
A |
6: 124,755,130 (GRCm39) |
A136S |
probably damaging |
Het |
Ltf |
T |
C |
9: 110,855,193 (GRCm39) |
I402T |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,956,237 (GRCm39) |
H509R |
probably benign |
Het |
Mthfd1l |
A |
G |
10: 4,039,334 (GRCm39) |
K782E |
probably damaging |
Het |
Mvb12b |
G |
A |
2: 33,717,800 (GRCm39) |
R114W |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,149,808 (GRCm39) |
K1818* |
probably null |
Het |
Ncapd3 |
T |
A |
9: 27,000,598 (GRCm39) |
S1402T |
probably benign |
Het |
Nutm2 |
A |
G |
13: 50,623,516 (GRCm39) |
N71S |
probably benign |
Het |
Oas1c |
C |
A |
5: 120,940,133 (GRCm39) |
M344I |
probably benign |
Het |
Or10g7 |
T |
A |
9: 39,905,138 (GRCm39) |
F11I |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,612,247 (GRCm39) |
L1019P |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,718,453 (GRCm39) |
E494G |
probably benign |
Het |
Pole |
T |
C |
5: 110,447,666 (GRCm39) |
I734T |
probably benign |
Het |
Ppp1r3b |
T |
C |
8: 35,851,769 (GRCm39) |
S203P |
probably benign |
Het |
Pth2r |
G |
T |
1: 65,385,998 (GRCm39) |
M240I |
probably benign |
Het |
Ptprr |
T |
A |
10: 116,109,672 (GRCm39) |
F394I |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,239,329 (GRCm39) |
S265P |
possibly damaging |
Het |
Rbpjl |
A |
G |
2: 164,255,815 (GRCm39) |
D353G |
possibly damaging |
Het |
Rfc3 |
A |
G |
5: 151,574,596 (GRCm39) |
Y8H |
probably benign |
Het |
Rph3a |
A |
T |
5: 121,118,187 (GRCm39) |
|
probably null |
Het |
Runx1t1 |
A |
T |
4: 13,865,294 (GRCm39) |
|
probably benign |
Het |
Slc37a1 |
T |
A |
17: 31,519,483 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,025,714 (GRCm39) |
|
probably benign |
Het |
Slc38a6 |
T |
C |
12: 73,397,342 (GRCm39) |
V328A |
probably benign |
Het |
Slf2 |
T |
C |
19: 44,930,167 (GRCm39) |
S415P |
probably benign |
Het |
Spata17 |
C |
A |
1: 186,872,631 (GRCm39) |
R60L |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,118,369 (GRCm39) |
D2237E |
probably benign |
Het |
Swap70 |
T |
A |
7: 109,863,179 (GRCm39) |
N169K |
probably benign |
Het |
Tnfrsf11a |
A |
G |
1: 105,755,443 (GRCm39) |
D505G |
probably benign |
Het |
Traf1 |
A |
G |
2: 34,839,115 (GRCm39) |
V70A |
probably benign |
Het |
Traf3 |
T |
A |
12: 111,209,899 (GRCm39) |
V165E |
probably benign |
Het |
Trpc5 |
T |
C |
X: 143,194,795 (GRCm39) |
E570G |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,460,279 (GRCm39) |
N601S |
probably benign |
Het |
Vmn2r30 |
C |
T |
7: 7,337,243 (GRCm39) |
C131Y |
possibly damaging |
Het |
Vmn2r43 |
T |
C |
7: 8,258,551 (GRCm39) |
I221V |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,150,596 (GRCm39) |
V481E |
possibly damaging |
Het |
|
Other mutations in Myo1h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Myo1h
|
APN |
5 |
114,453,132 (GRCm39) |
splice site |
probably benign |
|
IGL00922:Myo1h
|
APN |
5 |
114,498,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01022:Myo1h
|
APN |
5 |
114,474,361 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01364:Myo1h
|
APN |
5 |
114,486,500 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Myo1h
|
APN |
5 |
114,499,330 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01626:Myo1h
|
APN |
5 |
114,453,027 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02026:Myo1h
|
APN |
5 |
114,461,505 (GRCm39) |
missense |
probably null |
0.07 |
IGL02156:Myo1h
|
APN |
5 |
114,491,972 (GRCm39) |
splice site |
probably benign |
|
IGL02164:Myo1h
|
APN |
5 |
114,472,157 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02562:Myo1h
|
APN |
5 |
114,496,053 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02938:Myo1h
|
APN |
5 |
114,497,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R0056:Myo1h
|
UTSW |
5 |
114,468,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Myo1h
|
UTSW |
5 |
114,467,225 (GRCm39) |
splice site |
probably null |
|
R0346:Myo1h
|
UTSW |
5 |
114,493,270 (GRCm39) |
missense |
probably benign |
0.19 |
R0464:Myo1h
|
UTSW |
5 |
114,498,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R0556:Myo1h
|
UTSW |
5 |
114,457,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0723:Myo1h
|
UTSW |
5 |
114,457,741 (GRCm39) |
missense |
probably benign |
0.20 |
R0751:Myo1h
|
UTSW |
5 |
114,458,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Myo1h
|
UTSW |
5 |
114,457,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R1470:Myo1h
|
UTSW |
5 |
114,457,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R1579:Myo1h
|
UTSW |
5 |
114,485,496 (GRCm39) |
nonsense |
probably null |
|
R1646:Myo1h
|
UTSW |
5 |
114,455,693 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1648:Myo1h
|
UTSW |
5 |
114,474,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Myo1h
|
UTSW |
5 |
114,491,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Myo1h
|
UTSW |
5 |
114,499,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R2697:Myo1h
|
UTSW |
5 |
114,493,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R3124:Myo1h
|
UTSW |
5 |
114,466,860 (GRCm39) |
missense |
probably benign |
0.04 |
R3195:Myo1h
|
UTSW |
5 |
114,466,801 (GRCm39) |
missense |
probably benign |
|
R4255:Myo1h
|
UTSW |
5 |
114,468,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4613:Myo1h
|
UTSW |
5 |
114,489,737 (GRCm39) |
missense |
probably benign |
0.02 |
R4613:Myo1h
|
UTSW |
5 |
114,486,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4758:Myo1h
|
UTSW |
5 |
114,487,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R4784:Myo1h
|
UTSW |
5 |
114,498,660 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4785:Myo1h
|
UTSW |
5 |
114,498,660 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5511:Myo1h
|
UTSW |
5 |
114,483,958 (GRCm39) |
nonsense |
probably null |
|
R5663:Myo1h
|
UTSW |
5 |
114,472,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6186:Myo1h
|
UTSW |
5 |
114,457,864 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6243:Myo1h
|
UTSW |
5 |
114,500,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R6344:Myo1h
|
UTSW |
5 |
114,466,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6345:Myo1h
|
UTSW |
5 |
114,489,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Myo1h
|
UTSW |
5 |
114,474,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R6444:Myo1h
|
UTSW |
5 |
114,453,017 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6787:Myo1h
|
UTSW |
5 |
114,458,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R6891:Myo1h
|
UTSW |
5 |
114,487,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6990:Myo1h
|
UTSW |
5 |
114,468,221 (GRCm39) |
missense |
probably damaging |
0.97 |
R7040:Myo1h
|
UTSW |
5 |
114,497,805 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7101:Myo1h
|
UTSW |
5 |
114,480,258 (GRCm39) |
missense |
|
|
R7121:Myo1h
|
UTSW |
5 |
114,476,290 (GRCm39) |
missense |
|
|
R7206:Myo1h
|
UTSW |
5 |
114,457,836 (GRCm39) |
nonsense |
probably null |
|
R7222:Myo1h
|
UTSW |
5 |
114,493,322 (GRCm39) |
critical splice donor site |
probably null |
|
R7838:Myo1h
|
UTSW |
5 |
114,466,872 (GRCm39) |
splice site |
probably null |
|
R7896:Myo1h
|
UTSW |
5 |
114,474,372 (GRCm39) |
splice site |
probably null |
|
R8004:Myo1h
|
UTSW |
5 |
114,458,769 (GRCm39) |
missense |
|
|
R8323:Myo1h
|
UTSW |
5 |
114,480,200 (GRCm39) |
missense |
|
|
R8874:Myo1h
|
UTSW |
5 |
114,472,163 (GRCm39) |
missense |
|
|
R8945:Myo1h
|
UTSW |
5 |
114,470,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R9432:Myo1h
|
UTSW |
5 |
114,499,366 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9518:Myo1h
|
UTSW |
5 |
114,497,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R9527:Myo1h
|
UTSW |
5 |
114,453,098 (GRCm39) |
missense |
|
|
R9548:Myo1h
|
UTSW |
5 |
114,499,154 (GRCm39) |
missense |
probably benign |
0.16 |
R9687:Myo1h
|
UTSW |
5 |
114,458,769 (GRCm39) |
missense |
|
|
R9803:Myo1h
|
UTSW |
5 |
114,483,997 (GRCm39) |
missense |
|
|
Z1177:Myo1h
|
UTSW |
5 |
114,472,217 (GRCm39) |
missense |
|
|
|
Posted On |
2015-04-16 |