Incidental Mutation 'R9548:Myo1h'
| ID |
720233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114499154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 110
(P110S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144133
(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 benign
Transcript: ENSMUST00000124316
AA Change: P879S
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: P879S
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: P959S
| 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
AA Change: P110S
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
AA Change: P110S
| 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
AA Change: P134S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
AA Change: P134S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199567
AA Change: P134S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
AA Change: P134S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: P943S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfy1 |
G |
A |
11: 72,641,005 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,262 (GRCm39) |
Y1340C |
probably damaging |
Het |
| Bcl2 |
C |
A |
1: 106,640,508 (GRCm39) |
A35S |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,623 (GRCm39) |
S188T |
probably benign |
Het |
| Carmil1 |
C |
A |
13: 24,460,516 (GRCm39) |
G21V |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,663,956 (GRCm39) |
V112A |
probably benign |
Het |
| Cd300lf |
T |
C |
11: 115,007,858 (GRCm39) |
E319G |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,661,832 (GRCm39) |
D587E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,040 (GRCm39) |
T239S |
possibly damaging |
Het |
| Cma2 |
A |
C |
14: 56,211,256 (GRCm39) |
I239L |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,482,854 (GRCm39) |
M733K |
probably benign |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,170 (GRCm39) |
D225G |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,890,158 (GRCm39) |
R276H |
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,141 (GRCm39) |
F88L |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,776 (GRCm39) |
N95S |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,328,025 (GRCm39) |
T2133K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
G |
A |
5: 9,490,859 (GRCm39) |
G623D |
probably damaging |
Het |
| Epn2 |
A |
T |
11: 61,436,988 (GRCm39) |
S195T |
probably benign |
Het |
| Exoc3 |
A |
T |
13: 74,330,285 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Fbxo10 |
C |
A |
4: 45,058,970 (GRCm39) |
V256L |
probably damaging |
Het |
| Fis1 |
A |
T |
5: 136,991,907 (GRCm39) |
T34S |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,161 (GRCm39) |
C118S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,891,808 (GRCm39) |
V340E |
probably damaging |
Het |
| Ifng |
C |
A |
10: 118,277,128 (GRCm39) |
H23Q |
probably benign |
Het |
| Lect2 |
C |
T |
13: 56,694,660 (GRCm39) |
E32K |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,388,733 (GRCm39) |
T3239P |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,996 (GRCm39) |
Y28F |
probably benign |
Het |
| Maml3 |
A |
T |
3: 51,763,791 (GRCm39) |
V391E |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,141 (GRCm39) |
R59H |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,070,884 (GRCm39) |
L120I |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,421,648 (GRCm39) |
H4349N |
possibly damaging |
Het |
| Nol10 |
T |
G |
12: 17,466,144 (GRCm39) |
I513S |
possibly damaging |
Het |
| Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,641,097 (GRCm39) |
N311I |
probably damaging |
Het |
| Or4b1b |
T |
C |
2: 90,111,991 (GRCm39) |
*309W |
probably null |
Het |
| Or56b1b |
A |
T |
7: 108,164,334 (GRCm39) |
S223T |
possibly damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,416 (GRCm39) |
T213S |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,402 (GRCm39) |
Y623F |
possibly damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,289,826 (GRCm39) |
I525F |
probably benign |
Het |
| Peak1 |
G |
T |
9: 56,113,917 (GRCm39) |
Q1675K |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,290 (GRCm39) |
V278A |
probably benign |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,527 (GRCm39) |
R115C |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,574,690 (GRCm39) |
L635Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,692 (GRCm39) |
T913A |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,788,673 (GRCm39) |
I233F |
possibly damaging |
Het |
| Skint9 |
T |
G |
4: 112,276,346 (GRCm39) |
L8F |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,258,041 (GRCm39) |
N360K |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,460,865 (GRCm39) |
Y243* |
probably null |
Het |
| Slc22a19 |
C |
A |
19: 7,659,219 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
T |
C |
1: 72,671,999 (GRCm39) |
I840T |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,991,303 (GRCm39) |
K1019E |
possibly damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,700 (GRCm39) |
S83P |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,382 (GRCm39) |
H78R |
probably damaging |
Het |
| Tcstv7a |
T |
A |
13: 120,289,924 (GRCm39) |
I91F |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,113,833 (GRCm39) |
E475G |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,644,768 (GRCm39) |
V312A |
probably benign |
Het |
| Traip |
C |
A |
9: 107,833,099 (GRCm39) |
T45N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,691 (GRCm39) |
Y25734C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 102,977,495 (GRCm39) |
V166D |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,622 (GRCm39) |
V282F |
possibly damaging |
Het |
| Vmn1r184 |
G |
A |
7: 25,966,734 (GRCm39) |
S160N |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,033,059 (GRCm39) |
D2231G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,401,323 (GRCm39) |
G4132D |
unknown |
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 |
|
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 |
|
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGTGGAGCTTTCCAAAG -3'
(R):5'- ACCTCAAATATGTGTTCACACTGC -3'
Sequencing Primer
(F):5'- GGTGCTGGGCATCCAAACATAC -3'
(R):5'- TGTTCACACTGCAGGATGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation