Incidental Mutation 'R4091:Myh14'
ID |
317609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myh14
|
Ensembl Gene |
ENSMUSG00000030739 |
Gene Name |
myosin, heavy polypeptide 14 |
Synonyms |
2400004E04Rik, NMHC II-C |
MMRRC Submission |
041626-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4091 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44255227-44320267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44282415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 745
(T745S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048102]
[ENSMUST00000107899]
[ENSMUST00000107900]
[ENSMUST00000207775]
|
AlphaFold |
Q6URW6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048102
AA Change: T753S
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046059 Gene: ENSMUSG00000030739 AA Change: T753S
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
80 |
N/A |
INTRINSIC |
MYSc
|
95 |
805 |
N/A |
SMART |
IQ
|
806 |
828 |
3.91e-4 |
SMART |
Blast:MYSc
|
839 |
872 |
1e-12 |
BLAST |
low complexity region
|
880 |
891 |
N/A |
INTRINSIC |
low complexity region
|
926 |
937 |
N/A |
INTRINSIC |
low complexity region
|
1005 |
1013 |
N/A |
INTRINSIC |
low complexity region
|
1021 |
1029 |
N/A |
INTRINSIC |
low complexity region
|
1030 |
1041 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
1094 |
1951 |
9.3e-180 |
PFAM |
low complexity region
|
1955 |
1966 |
N/A |
INTRINSIC |
low complexity region
|
1968 |
1997 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107899
AA Change: T745S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103531 Gene: ENSMUSG00000030739 AA Change: T745S
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
80 |
N/A |
INTRINSIC |
MYSc
|
95 |
797 |
N/A |
SMART |
IQ
|
798 |
820 |
3.91e-4 |
SMART |
Blast:MYSc
|
831 |
864 |
1e-12 |
BLAST |
low complexity region
|
872 |
883 |
N/A |
INTRINSIC |
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1013 |
1021 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
1086 |
1943 |
9e-180 |
PFAM |
low complexity region
|
1947 |
1958 |
N/A |
INTRINSIC |
low complexity region
|
1960 |
1989 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107900
AA Change: T753S
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103532 Gene: ENSMUSG00000030739 AA Change: T753S
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
80 |
N/A |
INTRINSIC |
MYSc
|
95 |
805 |
N/A |
SMART |
IQ
|
806 |
828 |
3.91e-4 |
SMART |
Pfam:Myosin_tail_1
|
869 |
1949 |
N/A |
PFAM |
low complexity region
|
1955 |
1966 |
N/A |
INTRINSIC |
low complexity region
|
1968 |
1997 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207775
AA Change: T786S
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208085
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208200
AA Change: T431S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209024
|
Meta Mutation Damage Score |
0.0855 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (61/62) |
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-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,575,722 (GRCm39) |
S674P |
possibly damaging |
Het |
Abca3 |
C |
T |
17: 24,616,456 (GRCm39) |
T966M |
probably damaging |
Het |
Adam2 |
A |
T |
14: 66,267,172 (GRCm39) |
Y696N |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Arhgap25 |
G |
T |
6: 87,440,017 (GRCm39) |
S543R |
probably benign |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 37,084,738 (GRCm39) |
A3897T |
probably benign |
Het |
Carns1 |
C |
T |
19: 4,221,682 (GRCm39) |
R191Q |
probably damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,643,611 (GRCm39) |
P895T |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,609,646 (GRCm39) |
I287F |
probably damaging |
Het |
Cystm1 |
A |
G |
18: 36,499,600 (GRCm39) |
N5S |
unknown |
Het |
Dnah8 |
T |
C |
17: 30,988,813 (GRCm39) |
V3261A |
probably damaging |
Het |
Dnajc11 |
A |
G |
4: 152,062,550 (GRCm39) |
|
probably benign |
Het |
Dock4 |
T |
C |
12: 40,894,266 (GRCm39) |
S1847P |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,131,881 (GRCm39) |
V1642A |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,730,242 (GRCm39) |
|
probably null |
Het |
Fam221b |
A |
G |
4: 43,665,987 (GRCm39) |
I208T |
probably benign |
Het |
Gpr141b |
T |
A |
13: 19,913,635 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
T |
C |
1: 135,089,301 (GRCm39) |
I255V |
probably benign |
Het |
Grm7 |
G |
A |
6: 110,891,301 (GRCm39) |
S178N |
probably damaging |
Het |
Hspa12b |
T |
A |
2: 130,975,408 (GRCm39) |
|
probably null |
Het |
Kctd3 |
A |
T |
1: 188,727,917 (GRCm39) |
|
probably benign |
Het |
Kynu |
G |
A |
2: 43,569,884 (GRCm39) |
V389M |
possibly damaging |
Het |
Lcat |
A |
G |
8: 106,666,538 (GRCm39) |
L328P |
probably benign |
Het |
Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
Maml1 |
G |
A |
11: 50,182,656 (GRCm39) |
P78L |
probably benign |
Het |
Mef2b |
G |
A |
8: 70,617,752 (GRCm39) |
V37M |
probably damaging |
Het |
Mindy2 |
A |
T |
9: 70,541,342 (GRCm39) |
M281K |
probably damaging |
Het |
Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
Mtr |
A |
T |
13: 12,245,943 (GRCm39) |
V394E |
probably damaging |
Het |
Nme9 |
T |
A |
9: 99,346,580 (GRCm39) |
D131E |
possibly damaging |
Het |
Nphp4 |
C |
A |
4: 152,631,475 (GRCm39) |
Q792K |
probably damaging |
Het |
Nrxn2 |
T |
A |
19: 6,523,444 (GRCm39) |
C479S |
probably damaging |
Het |
Nsmf |
T |
C |
2: 24,950,871 (GRCm39) |
I406T |
probably damaging |
Het |
Or10a49 |
G |
A |
7: 108,467,650 (GRCm39) |
A237V |
probably damaging |
Het |
Or5an9 |
A |
T |
19: 12,187,143 (GRCm39) |
D71V |
probably damaging |
Het |
Or8g28 |
T |
A |
9: 39,169,330 (GRCm39) |
I213F |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,757,960 (GRCm39) |
T197A |
probably benign |
Het |
Pla2r1 |
T |
A |
2: 60,262,937 (GRCm39) |
N1034I |
probably damaging |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Rxfp1 |
A |
T |
3: 79,552,068 (GRCm39) |
D744E |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,887 (GRCm39) |
N125D |
probably benign |
Het |
Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
Slc22a30 |
C |
T |
19: 8,381,909 (GRCm39) |
V121M |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 109,993,897 (GRCm39) |
D247E |
possibly damaging |
Het |
Smg9 |
T |
A |
7: 24,120,292 (GRCm39) |
L422Q |
probably null |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Tle5 |
G |
A |
10: 81,401,418 (GRCm39) |
G162D |
probably damaging |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Utrn |
T |
A |
10: 12,585,915 (GRCm39) |
D954V |
probably benign |
Het |
Vmn1r227 |
T |
A |
17: 20,955,778 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r11 |
A |
C |
5: 109,202,616 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
A |
T |
10: 130,227,238 (GRCm39) |
M200K |
probably damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,652,883 (GRCm39) |
Y469N |
probably damaging |
Het |
Wdcp |
A |
G |
12: 4,905,279 (GRCm39) |
N600S |
probably null |
Het |
Wdfy4 |
T |
G |
14: 32,847,837 (GRCm39) |
R838S |
possibly damaging |
Het |
|
Other mutations in Myh14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01139:Myh14
|
APN |
7 |
44,255,716 (GRCm39) |
unclassified |
probably benign |
|
IGL01431:Myh14
|
APN |
7 |
44,263,782 (GRCm39) |
missense |
probably null |
0.00 |
IGL01722:Myh14
|
APN |
7 |
44,292,956 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01806:Myh14
|
APN |
7 |
44,307,363 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02034:Myh14
|
APN |
7 |
44,265,717 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02260:Myh14
|
APN |
7 |
44,260,995 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02590:Myh14
|
APN |
7 |
44,273,503 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02696:Myh14
|
APN |
7 |
44,314,530 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Myh14
|
APN |
7 |
44,257,960 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03193:Myh14
|
APN |
7 |
44,279,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
PIT4581001:Myh14
|
UTSW |
7 |
44,262,906 (GRCm39) |
missense |
probably benign |
0.04 |
R0067:Myh14
|
UTSW |
7 |
44,272,551 (GRCm39) |
missense |
probably benign |
0.05 |
R0083:Myh14
|
UTSW |
7 |
44,283,943 (GRCm39) |
missense |
probably damaging |
0.98 |
R0108:Myh14
|
UTSW |
7 |
44,283,943 (GRCm39) |
missense |
probably damaging |
0.98 |
R0152:Myh14
|
UTSW |
7 |
44,272,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0369:Myh14
|
UTSW |
7 |
44,310,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R0552:Myh14
|
UTSW |
7 |
44,263,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R0699:Myh14
|
UTSW |
7 |
44,274,395 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0763:Myh14
|
UTSW |
7 |
44,314,791 (GRCm39) |
missense |
probably damaging |
0.98 |
R1079:Myh14
|
UTSW |
7 |
44,279,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R1388:Myh14
|
UTSW |
7 |
44,314,546 (GRCm39) |
missense |
probably damaging |
0.98 |
R1432:Myh14
|
UTSW |
7 |
44,265,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R1568:Myh14
|
UTSW |
7 |
44,261,122 (GRCm39) |
nonsense |
probably null |
|
R1579:Myh14
|
UTSW |
7 |
44,305,118 (GRCm39) |
splice site |
probably null |
|
R1598:Myh14
|
UTSW |
7 |
44,287,818 (GRCm39) |
missense |
probably damaging |
0.96 |
R1848:Myh14
|
UTSW |
7 |
44,281,853 (GRCm39) |
missense |
probably damaging |
0.98 |
R1869:Myh14
|
UTSW |
7 |
44,261,067 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1917:Myh14
|
UTSW |
7 |
44,307,349 (GRCm39) |
missense |
probably benign |
|
R1933:Myh14
|
UTSW |
7 |
44,264,772 (GRCm39) |
missense |
probably benign |
0.09 |
R1984:Myh14
|
UTSW |
7 |
44,288,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Myh14
|
UTSW |
7 |
44,301,853 (GRCm39) |
critical splice donor site |
probably null |
|
R2190:Myh14
|
UTSW |
7 |
44,310,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R2217:Myh14
|
UTSW |
7 |
44,283,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R2239:Myh14
|
UTSW |
7 |
44,314,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R2918:Myh14
|
UTSW |
7 |
44,265,687 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4110:Myh14
|
UTSW |
7 |
44,277,974 (GRCm39) |
missense |
probably benign |
0.00 |
R4199:Myh14
|
UTSW |
7 |
44,264,927 (GRCm39) |
nonsense |
probably null |
|
R4507:Myh14
|
UTSW |
7 |
44,279,415 (GRCm39) |
missense |
probably benign |
0.00 |
R4539:Myh14
|
UTSW |
7 |
44,276,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R4550:Myh14
|
UTSW |
7 |
44,283,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4673:Myh14
|
UTSW |
7 |
44,273,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R4768:Myh14
|
UTSW |
7 |
44,263,099 (GRCm39) |
missense |
probably benign |
0.19 |
R4832:Myh14
|
UTSW |
7 |
44,274,566 (GRCm39) |
missense |
probably benign |
0.31 |
R4853:Myh14
|
UTSW |
7 |
44,257,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Myh14
|
UTSW |
7 |
44,310,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Myh14
|
UTSW |
7 |
44,284,926 (GRCm39) |
missense |
probably benign |
0.00 |
R5070:Myh14
|
UTSW |
7 |
44,265,672 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5166:Myh14
|
UTSW |
7 |
44,278,279 (GRCm39) |
missense |
probably damaging |
0.99 |
R5726:Myh14
|
UTSW |
7 |
44,292,886 (GRCm39) |
critical splice donor site |
probably null |
|
R5786:Myh14
|
UTSW |
7 |
44,262,887 (GRCm39) |
missense |
probably benign |
0.23 |
R5895:Myh14
|
UTSW |
7 |
44,256,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5961:Myh14
|
UTSW |
7 |
44,272,518 (GRCm39) |
missense |
probably damaging |
0.96 |
R6014:Myh14
|
UTSW |
7 |
44,274,502 (GRCm39) |
missense |
probably null |
|
R6080:Myh14
|
UTSW |
7 |
44,305,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Myh14
|
UTSW |
7 |
44,276,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Myh14
|
UTSW |
7 |
44,287,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R6833:Myh14
|
UTSW |
7 |
44,273,803 (GRCm39) |
nonsense |
probably null |
|
R6894:Myh14
|
UTSW |
7 |
44,282,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Myh14
|
UTSW |
7 |
44,278,737 (GRCm39) |
missense |
probably damaging |
0.96 |
R6962:Myh14
|
UTSW |
7 |
44,307,363 (GRCm39) |
missense |
probably benign |
0.36 |
R7066:Myh14
|
UTSW |
7 |
44,280,179 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7261:Myh14
|
UTSW |
7 |
44,273,761 (GRCm39) |
nonsense |
probably null |
|
R7303:Myh14
|
UTSW |
7 |
44,261,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7304:Myh14
|
UTSW |
7 |
44,279,415 (GRCm39) |
missense |
probably benign |
0.00 |
R7327:Myh14
|
UTSW |
7 |
44,260,977 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7380:Myh14
|
UTSW |
7 |
44,310,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Myh14
|
UTSW |
7 |
44,281,850 (GRCm39) |
missense |
probably benign |
0.37 |
R7622:Myh14
|
UTSW |
7 |
44,281,846 (GRCm39) |
missense |
probably benign |
0.25 |
R7681:Myh14
|
UTSW |
7 |
44,273,572 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7718:Myh14
|
UTSW |
7 |
44,310,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R7910:Myh14
|
UTSW |
7 |
44,281,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Myh14
|
UTSW |
7 |
44,274,551 (GRCm39) |
missense |
probably damaging |
0.97 |
R8088:Myh14
|
UTSW |
7 |
44,314,920 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
R8164:Myh14
|
UTSW |
7 |
44,274,457 (GRCm39) |
missense |
probably benign |
0.01 |
R8260:Myh14
|
UTSW |
7 |
44,264,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R8299:Myh14
|
UTSW |
7 |
44,276,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R8410:Myh14
|
UTSW |
7 |
44,282,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Myh14
|
UTSW |
7 |
44,272,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:Myh14
|
UTSW |
7 |
44,265,678 (GRCm39) |
missense |
probably benign |
0.08 |
R8934:Myh14
|
UTSW |
7 |
44,306,852 (GRCm39) |
missense |
probably benign |
|
R9169:Myh14
|
UTSW |
7 |
44,271,281 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9395:Myh14
|
UTSW |
7 |
44,274,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9451:Myh14
|
UTSW |
7 |
44,273,743 (GRCm39) |
critical splice donor site |
probably null |
|
X0026:Myh14
|
UTSW |
7 |
44,263,818 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:Myh14
|
UTSW |
7 |
44,273,557 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Myh14
|
UTSW |
7 |
44,287,733 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Myh14
|
UTSW |
7 |
44,257,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCCAAGGCTTCCCATAC -3'
(R):5'- GCAAGTGTGCGATCCTCTATAC -3'
Sequencing Primer
(F):5'- GGTCCAAGGCTTCCCATACATCTC -3'
(R):5'- ACCTGGTCTACGTAGCGAGTTC -3'
|
Posted On |
2015-05-15 |