Incidental Mutation 'R6532:Myo1f'
| ID |
522452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1f
|
| Ensembl Gene |
ENSMUSG00000024300 |
| Gene Name |
myosin IF |
| Synonyms |
C330006B10Rik |
| MMRRC Submission |
044658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R6532 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33774681-33826738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33794820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 20
(D20G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087605]
[ENSMUST00000173372]
[ENSMUST00000174695]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087605
AA Change: D20G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084887
Gene: ENSMUSG00000024300
AA Change: D20G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
11 |
691 |
N/A |
SMART |
|
IQ
|
692 |
714 |
7.57e0 |
SMART |
|
Pfam:Myosin_TH1
|
717 |
909 |
1.7e-51 |
PFAM |
|
low complexity region
|
939 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
973 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1001 |
N/A |
INTRINSIC |
|
SH3
|
1044 |
1098 |
2.09e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173372
AA Change: D20G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134715
Gene: ENSMUSG00000024300
AA Change: D20G
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
11 |
691 |
N/A |
SMART |
|
IQ
|
692 |
714 |
7.57e0 |
SMART |
|
Pfam:Myosin_TH1
|
716 |
780 |
6e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174695
AA Change: D20G
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134600
Gene: ENSMUSG00000024300
AA Change: D20G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_head
|
47 |
98 |
1.3e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
| Adal |
A |
G |
2: 120,976,604 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,790,461 (GRCm39) |
N1600K |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,463,813 (GRCm39) |
T631A |
probably benign |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,685,684 (GRCm39) |
V132A |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,520,921 (GRCm39) |
R301Q |
probably benign |
Het |
| Garnl3 |
A |
T |
2: 32,921,131 (GRCm39) |
M298K |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,729,738 (GRCm39) |
D619G |
probably benign |
Het |
| Haspin |
A |
T |
11: 73,028,377 (GRCm39) |
C237* |
probably null |
Het |
| Hook1 |
T |
G |
4: 95,907,993 (GRCm39) |
|
probably null |
Het |
| Hoxa7 |
A |
G |
6: 52,194,295 (GRCm39) |
F31L |
probably benign |
Het |
| Hoxb7 |
C |
A |
11: 96,177,714 (GRCm39) |
S54* |
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,557,211 (GRCm39) |
V516A |
possibly damaging |
Het |
| Inca1 |
T |
C |
11: 70,586,733 (GRCm39) |
M1V |
probably null |
Het |
| Kcnt2 |
A |
G |
1: 140,511,844 (GRCm39) |
T933A |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,924,073 (GRCm39) |
D494N |
possibly damaging |
Het |
| Lrp1 |
A |
C |
10: 127,377,551 (GRCm39) |
H4133Q |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,385,276 (GRCm39) |
F3542L |
probably damaging |
Het |
| Nlk |
G |
T |
11: 78,586,881 (GRCm39) |
A71E |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,708 (GRCm39) |
|
probably null |
Het |
| Or9m1 |
A |
T |
2: 87,733,546 (GRCm39) |
I158N |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,174 (GRCm39) |
F168L |
probably benign |
Het |
| Pcnx1 |
C |
A |
12: 82,027,738 (GRCm39) |
H1601N |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,506,829 (GRCm39) |
M1K |
probably null |
Het |
| Skic2 |
G |
A |
17: 35,063,719 (GRCm39) |
R575C |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,019,368 (GRCm39) |
Y324C |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,743,252 (GRCm39) |
E400G |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,614,607 (GRCm39) |
I230T |
possibly damaging |
Het |
| Wfdc2 |
A |
G |
2: 164,405,296 (GRCm39) |
T50A |
probably benign |
Het |
| Zfp563 |
A |
G |
17: 33,324,672 (GRCm39) |
I422M |
probably benign |
Het |
|
| Other mutations in Myo1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00851:Myo1f
|
APN |
17 |
33,800,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01019:Myo1f
|
APN |
17 |
33,811,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01524:Myo1f
|
APN |
17 |
33,798,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01744:Myo1f
|
APN |
17 |
33,802,654 (GRCm39) |
splice site |
probably benign |
|
|
IGL01951:Myo1f
|
APN |
17 |
33,816,991 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02132:Myo1f
|
APN |
17 |
33,798,945 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02170:Myo1f
|
APN |
17 |
33,797,246 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02173:Myo1f
|
APN |
17 |
33,826,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Myo1f
|
APN |
17 |
33,798,835 (GRCm39) |
splice site |
probably null |
|
|
IGL02550:Myo1f
|
APN |
17 |
33,799,124 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02550:Myo1f
|
APN |
17 |
33,807,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02615:Myo1f
|
APN |
17 |
33,823,630 (GRCm39) |
missense |
probably benign |
|
|
IGL02801:Myo1f
|
APN |
17 |
33,797,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02817:Myo1f
|
APN |
17 |
33,823,532 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02904:Myo1f
|
APN |
17 |
33,804,632 (GRCm39) |
nonsense |
probably null |
|
|
IGL03056:Myo1f
|
APN |
17 |
33,804,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Myo1f
|
APN |
17 |
33,817,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Myo1f
|
UTSW |
17 |
33,820,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0066:Myo1f
|
UTSW |
17 |
33,820,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0321:Myo1f
|
UTSW |
17 |
33,811,986 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0375:Myo1f
|
UTSW |
17 |
33,820,930 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0487:Myo1f
|
UTSW |
17 |
33,797,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Myo1f
|
UTSW |
17 |
33,797,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1394:Myo1f
|
UTSW |
17 |
33,802,714 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1395:Myo1f
|
UTSW |
17 |
33,802,714 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1474:Myo1f
|
UTSW |
17 |
33,813,001 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1760:Myo1f
|
UTSW |
17 |
33,805,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1965:Myo1f
|
UTSW |
17 |
33,817,146 (GRCm39) |
nonsense |
probably null |
|
|
R2409:Myo1f
|
UTSW |
17 |
33,795,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Myo1f
|
UTSW |
17 |
33,794,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Myo1f
|
UTSW |
17 |
33,801,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Myo1f
|
UTSW |
17 |
33,817,165 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5239:Myo1f
|
UTSW |
17 |
33,820,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5881:Myo1f
|
UTSW |
17 |
33,799,259 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5881:Myo1f
|
UTSW |
17 |
33,795,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Myo1f
|
UTSW |
17 |
33,823,318 (GRCm39) |
missense |
probably benign |
|
|
R6210:Myo1f
|
UTSW |
17 |
33,820,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Myo1f
|
UTSW |
17 |
33,805,090 (GRCm39) |
missense |
probably benign |
|
|
R6464:Myo1f
|
UTSW |
17 |
33,795,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Myo1f
|
UTSW |
17 |
33,794,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Myo1f
|
UTSW |
17 |
33,798,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7266:Myo1f
|
UTSW |
17 |
33,820,668 (GRCm39) |
missense |
probably benign |
|
|
R7513:Myo1f
|
UTSW |
17 |
33,794,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Myo1f
|
UTSW |
17 |
33,795,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Myo1f
|
UTSW |
17 |
33,797,247 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7853:Myo1f
|
UTSW |
17 |
33,795,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Myo1f
|
UTSW |
17 |
33,817,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Myo1f
|
UTSW |
17 |
33,816,992 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8807:Myo1f
|
UTSW |
17 |
33,794,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Myo1f
|
UTSW |
17 |
33,823,662 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9083:Myo1f
|
UTSW |
17 |
33,813,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9227:Myo1f
|
UTSW |
17 |
33,795,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Myo1f
|
UTSW |
17 |
33,795,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9528:Myo1f
|
UTSW |
17 |
33,797,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0028:Myo1f
|
UTSW |
17 |
33,795,412 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0065:Myo1f
|
UTSW |
17 |
33,820,957 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATCCTAGCCATTACTGGGG -3'
(R):5'- ACCATAGCACTATTGTTACTCGATG -3'
Sequencing Primer
(F):5'- AATCCTAGCCATTACTGGGGTATCTG -3'
(R):5'- AGCACTATTGTTACTCGATGTATCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation