Incidental Mutation 'IGL01469:Myo1h'
ID |
88218 |
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 # |
IGL01469
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114499330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 164
(T164A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001125]
[ENSMUST00000102581]
[ENSMUST00000124316]
[ENSMUST00000134532]
[ENSMUST00000169347]
[ENSMUST00000196467]
[ENSMUST00000196676]
[ENSMUST00000199567]
[ENSMUST00000202006]
|
AlphaFold |
Q9D6A1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001125
|
SMART Domains |
Protein: ENSMUSP00000001125 Gene: ENSMUSG00000001098
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
BTB
|
32 |
132 |
3.21e-19 |
SMART |
low complexity region
|
287 |
303 |
N/A |
INTRINSIC |
|
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 damaging
Transcript: ENSMUST00000124316
AA Change: T900A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952 AA Change: T900A
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 |
noncoding transcript
Transcript: ENSMUST00000134173
|
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 |
probably damaging
Transcript: ENSMUST00000169347
AA Change: T980A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132905 Gene: ENSMUSG00000066952 AA Change: T980A
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 damaging
Transcript: ENSMUST00000196467
AA Change: T131A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144133 Gene: ENSMUSG00000066952 AA Change: T131A
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 damaging
Transcript: ENSMUST00000196676
AA Change: T155A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144682 Gene: ENSMUSG00000066952 AA Change: T155A
Domain | Start | End | E-Value | Type |
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199567
AA Change: T164A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144492 Gene: ENSMUSG00000066952 AA Change: T164A
Domain | Start | End | E-Value | Type |
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202006
AA Change: T964A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144110 Gene: ENSMUSG00000066952 AA Change: T964A
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 |
noncoding transcript
Transcript: ENSMUST00000152694
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197773
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,255,192 (GRCm39) |
Q204R |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,325,796 (GRCm39) |
E60K |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,471,401 (GRCm39) |
|
probably null |
Het |
Ccdc107 |
A |
G |
4: 43,495,751 (GRCm39) |
N218S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,433,504 (GRCm39) |
M60K |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,934,567 (GRCm39) |
Q378R |
probably damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,510 (GRCm39) |
D164V |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,902,688 (GRCm39) |
|
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,345,111 (GRCm39) |
D190G |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,884 (GRCm39) |
N448S |
probably benign |
Het |
Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
Gbf1 |
A |
T |
19: 46,267,803 (GRCm39) |
E1271V |
probably damaging |
Het |
Ifitm6 |
A |
T |
7: 140,596,725 (GRCm39) |
V16D |
probably damaging |
Het |
Ighv2-4 |
A |
G |
12: 113,616,966 (GRCm39) |
|
probably null |
Het |
Kng2 |
T |
A |
16: 22,818,577 (GRCm39) |
K305I |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,420,283 (GRCm39) |
R900Q |
probably damaging |
Het |
Maml1 |
A |
G |
11: 50,157,353 (GRCm39) |
M274T |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,758,495 (GRCm39) |
E278G |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,257,093 (GRCm39) |
S135R |
probably benign |
Het |
Nrbf2 |
A |
G |
10: 67,105,919 (GRCm39) |
L41P |
probably damaging |
Het |
Or10a48 |
A |
G |
7: 108,424,534 (GRCm39) |
V224A |
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Or1o11 |
T |
A |
17: 37,756,426 (GRCm39) |
S5T |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,595 (GRCm39) |
M307K |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,449 (GRCm39) |
M6V |
probably benign |
Het |
Otoa |
T |
C |
7: 120,754,496 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
T |
C |
9: 108,934,483 (GRCm39) |
|
probably benign |
Het |
Ppp1r42 |
A |
T |
1: 10,073,458 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
T |
A |
9: 106,599,957 (GRCm39) |
K100M |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,342,167 (GRCm39) |
T308S |
possibly damaging |
Het |
Scaper |
T |
C |
9: 55,767,051 (GRCm39) |
D466G |
probably damaging |
Het |
Sgsm2 |
T |
A |
11: 74,744,697 (GRCm39) |
I796L |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,405,477 (GRCm39) |
L476P |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,055,366 (GRCm39) |
T6A |
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,198,781 (GRCm39) |
I783N |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,186,529 (GRCm39) |
D447G |
possibly damaging |
Het |
Tekt3 |
T |
G |
11: 62,964,294 (GRCm39) |
I208S |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,689,458 (GRCm39) |
V2043E |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,866,414 (GRCm39) |
Y111H |
probably damaging |
Het |
Tph2 |
T |
A |
10: 114,915,664 (GRCm39) |
R459* |
probably null |
Het |
Vmn2r109 |
T |
C |
17: 20,761,671 (GRCm39) |
Y562C |
probably 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 |
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 |
IGL02429:Myo1h
|
APN |
5 |
114,497,799 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-11-18 |