Incidental Mutation 'PIT4802001:Myh10'
| ID |
556744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh10
|
| Ensembl Gene |
ENSMUSG00000020900 |
| Gene Name |
myosin, heavy polypeptide 10, non-muscle |
| Synonyms |
5730504C04Rik, Fltn, Fltn, myosin IIB, 9330167F11Rik, Myhn-2, Myosin IIB, Myhn2, SMemb, NMHC-B, nonmuscle myosin heavy chain II-B, NMHC II-B, nonmuscle myosin heavy chain IIB |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
87.0076 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68582385-68707458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68655918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 471
(R471C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018887]
[ENSMUST00000092984]
[ENSMUST00000102611]
|
| AlphaFold |
Q61879 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018887
AA Change: R444C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: R444C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
33 |
75 |
1.5e-15 |
PFAM |
|
MYSc
|
79 |
815 |
N/A |
SMART |
|
IQ
|
816 |
838 |
4.81e-4 |
SMART |
|
low complexity region
|
932 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1046 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1070 |
1086 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
1104 |
1961 |
6.5e-211 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092984
AA Change: R471C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: R471C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
70 |
110 |
2.5e-13 |
PFAM |
|
MYSc
|
116 |
821 |
N/A |
SMART |
|
IQ
|
822 |
844 |
4.81e-4 |
SMART |
|
Pfam:Myosin_tail_1
|
885 |
1965 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102611
AA Change: R434C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: R434C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_N
|
33 |
75 |
1.4e-15 |
PFAM |
|
MYSc
|
79 |
784 |
N/A |
SMART |
|
IQ
|
785 |
807 |
4.81e-4 |
SMART |
|
low complexity region
|
901 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
963 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1039 |
1055 |
N/A |
INTRINSIC |
|
Pfam:Myosin_tail_1
|
1073 |
1930 |
6.2e-211 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.0%
- 10x: 85.4%
- 20x: 73.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Nullizygous mice show pre- and neonatal death, heart defects and hydrocephaly. Deletion of exon B1 disrupts migration of facial neurons, whereas deletion of exon B2 leads to Purkinje cell anomalies. Hypomorphs show hydrocephaly and defects in motor control, cerebellar foliation and neuron migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,172 (GRCm39) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,139,351 (GRCm39) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,706 (GRCm39) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,473,132 (GRCm39) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,855,231 (GRCm39) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,849 (GRCm39) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,589,974 (GRCm39) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,611 (GRCm39) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,488,803 (GRCm39) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,769,603 (GRCm39) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,464 (GRCm39) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,329,457 (GRCm39) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,291,175 (GRCm39) |
E116* |
probably null |
Het |
| Exph5 |
T |
C |
9: 53,286,278 (GRCm39) |
S1120P |
probably damaging |
Het |
| Fam184a |
A |
T |
10: 53,560,450 (GRCm39) |
L515* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,523,996 (GRCm39) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm39) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,648 (GRCm39) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,610 (GRCm39) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,712 (GRCm39) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,278,996 (GRCm39) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,801 (GRCm39) |
Y2368* |
probably null |
Het |
| Mtmr4 |
T |
A |
11: 87,501,953 (GRCm39) |
V669E |
probably benign |
Het |
| Nav1 |
G |
A |
1: 135,380,671 (GRCm39) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,090,157 (GRCm39) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,695,941 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,763 (GRCm39) |
L30Q |
probably null |
Het |
| Or5h25 |
A |
C |
16: 58,930,964 (GRCm39) |
M3R |
probably benign |
Het |
| Pdxp |
A |
G |
15: 78,802,611 (GRCm39) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,904 (GRCm39) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,540 (GRCm39) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,229 (GRCm39) |
L783R |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,972 (GRCm39) |
A83T |
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,875,267 (GRCm39) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,351,100 (GRCm39) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm39) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,046,991 (GRCm39) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,963,539 (GRCm39) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,313,996 (GRCm39) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,165 (GRCm39) |
Y457N |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,458,427 (GRCm39) |
P686S |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,010 (GRCm39) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,271,449 (GRCm39) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,772,462 (GRCm39) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm39) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,037 (GRCm39) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,845,068 (GRCm39) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,451,765 (GRCm39) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,261,736 (GRCm39) |
N100D |
probably damaging |
Het |
|
| Other mutations in Myh10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Myh10
|
APN |
11 |
68,681,534 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01132:Myh10
|
APN |
11 |
68,659,094 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01348:Myh10
|
APN |
11 |
68,702,629 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01404:Myh10
|
APN |
11 |
68,642,866 (GRCm39) |
splice site |
probably null |
|
|
IGL01409:Myh10
|
APN |
11 |
68,698,045 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01660:Myh10
|
APN |
11 |
68,676,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02111:Myh10
|
APN |
11 |
68,680,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Myh10
|
APN |
11 |
68,692,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02483:Myh10
|
APN |
11 |
68,692,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02502:Myh10
|
APN |
11 |
68,705,198 (GRCm39) |
splice site |
probably null |
|
|
IGL03178:Myh10
|
APN |
11 |
68,590,239 (GRCm39) |
missense |
probably benign |
0.19 |
|
algia
|
UTSW |
11 |
68,693,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
itis
|
UTSW |
11 |
68,655,071 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0066:Myh10
|
UTSW |
11 |
68,590,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Myh10
|
UTSW |
11 |
68,590,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Myh10
|
UTSW |
11 |
68,702,425 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0855:Myh10
|
UTSW |
11 |
68,702,627 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1110:Myh10
|
UTSW |
11 |
68,682,676 (GRCm39) |
splice site |
probably benign |
|
|
R1135:Myh10
|
UTSW |
11 |
68,698,023 (GRCm39) |
missense |
probably benign |
|
|
R1169:Myh10
|
UTSW |
11 |
68,653,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1643:Myh10
|
UTSW |
11 |
68,682,836 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1733:Myh10
|
UTSW |
11 |
68,693,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1754:Myh10
|
UTSW |
11 |
68,703,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1859:Myh10
|
UTSW |
11 |
68,636,239 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1898:Myh10
|
UTSW |
11 |
68,662,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Myh10
|
UTSW |
11 |
68,662,694 (GRCm39) |
splice site |
probably benign |
|
|
R1914:Myh10
|
UTSW |
11 |
68,681,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1915:Myh10
|
UTSW |
11 |
68,681,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1987:Myh10
|
UTSW |
11 |
68,705,322 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2130:Myh10
|
UTSW |
11 |
68,698,115 (GRCm39) |
splice site |
probably benign |
|
|
R2132:Myh10
|
UTSW |
11 |
68,698,115 (GRCm39) |
splice site |
probably benign |
|
|
R2136:Myh10
|
UTSW |
11 |
68,695,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Myh10
|
UTSW |
11 |
68,673,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Myh10
|
UTSW |
11 |
68,683,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Myh10
|
UTSW |
11 |
68,681,037 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3721:Myh10
|
UTSW |
11 |
68,703,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3908:Myh10
|
UTSW |
11 |
68,661,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4275:Myh10
|
UTSW |
11 |
68,642,766 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4526:Myh10
|
UTSW |
11 |
68,705,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4666:Myh10
|
UTSW |
11 |
68,692,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4668:Myh10
|
UTSW |
11 |
68,695,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Myh10
|
UTSW |
11 |
68,676,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Myh10
|
UTSW |
11 |
68,684,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Myh10
|
UTSW |
11 |
68,689,197 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5201:Myh10
|
UTSW |
11 |
68,674,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Myh10
|
UTSW |
11 |
68,692,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Myh10
|
UTSW |
11 |
68,655,071 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5366:Myh10
|
UTSW |
11 |
68,651,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5384:Myh10
|
UTSW |
11 |
68,692,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Myh10
|
UTSW |
11 |
68,693,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Myh10
|
UTSW |
11 |
68,689,206 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5551:Myh10
|
UTSW |
11 |
68,659,113 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5777:Myh10
|
UTSW |
11 |
68,676,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Myh10
|
UTSW |
11 |
68,705,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6021:Myh10
|
UTSW |
11 |
68,699,688 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6171:Myh10
|
UTSW |
11 |
68,682,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Myh10
|
UTSW |
11 |
68,692,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6263:Myh10
|
UTSW |
11 |
68,701,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6264:Myh10
|
UTSW |
11 |
68,636,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6484:Myh10
|
UTSW |
11 |
68,590,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Myh10
|
UTSW |
11 |
68,699,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6736:Myh10
|
UTSW |
11 |
68,636,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Myh10
|
UTSW |
11 |
68,692,965 (GRCm39) |
missense |
probably benign |
|
|
R7256:Myh10
|
UTSW |
11 |
68,681,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Myh10
|
UTSW |
11 |
68,701,017 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7363:Myh10
|
UTSW |
11 |
68,705,874 (GRCm39) |
missense |
probably benign |
|
|
R7576:Myh10
|
UTSW |
11 |
68,692,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Myh10
|
UTSW |
11 |
68,636,806 (GRCm39) |
missense |
unknown |
|
|
R7681:Myh10
|
UTSW |
11 |
68,662,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7813:Myh10
|
UTSW |
11 |
68,676,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7834:Myh10
|
UTSW |
11 |
68,676,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Myh10
|
UTSW |
11 |
68,699,719 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7938:Myh10
|
UTSW |
11 |
68,583,327 (GRCm39) |
missense |
unknown |
|
|
R7958:Myh10
|
UTSW |
11 |
68,612,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7994:Myh10
|
UTSW |
11 |
68,681,070 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8395:Myh10
|
UTSW |
11 |
68,682,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Myh10
|
UTSW |
11 |
68,688,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8674:Myh10
|
UTSW |
11 |
68,705,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8816:Myh10
|
UTSW |
11 |
68,693,778 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8912:Myh10
|
UTSW |
11 |
68,680,929 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9057:Myh10
|
UTSW |
11 |
68,656,011 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9333:Myh10
|
UTSW |
11 |
68,680,980 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9586:Myh10
|
UTSW |
11 |
68,703,820 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9617:Myh10
|
UTSW |
11 |
68,682,815 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0028:Myh10
|
UTSW |
11 |
68,683,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGAGCTGTAATTAAGCGG -3'
(R):5'- GTTTGACTCTAATCGAAGAGCAAG -3'
Sequencing Primer
(F):5'- AGCTGTAATTAAGCGGTGACTG -3'
(R):5'- GCAAGAAATGTACCTGCTCTGACTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation