Incidental Mutation 'IGL03365:Mybphl'
| ID |
420048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mybphl
|
| Ensembl Gene |
ENSMUSG00000068745 |
| Gene Name |
myosin binding protein H-like |
| Synonyms |
1110037P11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL03365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108272227-108287373 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 108272314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090563]
[ENSMUST00000102632]
[ENSMUST00000135636]
|
| AlphaFold |
Q5FW53 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090563
AA Change: M1K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
61 |
144 |
4.67e-4 |
SMART |
|
FN3
|
147 |
229 |
1.62e-10 |
SMART |
|
IG
|
268 |
352 |
3.68e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102632
|
| SMART Domains |
Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
79 |
N/A |
INTRINSIC |
|
VPS10
|
131 |
743 |
N/A |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135636
|
| SMART Domains |
Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
| Domain | Start | End | E-Value | Type |
|---|
|
VPS10
|
1 |
218 |
2.3e-5 |
SMART |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
G |
5: 25,202,809 (GRCm39) |
|
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,765 (GRCm39) |
I46N |
possibly damaging |
Het |
| Adipor1 |
A |
G |
1: 134,359,380 (GRCm39) |
D371G |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,633,851 (GRCm39) |
P307S |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,531 (GRCm39) |
D513G |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,674 (GRCm39) |
I1408N |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,852 (GRCm39) |
V472A |
probably damaging |
Het |
| Bpifa6 |
C |
A |
2: 153,831,204 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,248,225 (GRCm39) |
V380L |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,721,649 (GRCm39) |
S1111A |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,725,663 (GRCm39) |
|
probably null |
Het |
| Dock8 |
C |
T |
19: 25,077,048 (GRCm39) |
P506L |
possibly damaging |
Het |
| Ecsit |
A |
C |
9: 21,987,822 (GRCm39) |
H72Q |
probably damaging |
Het |
| Eif1b |
T |
A |
9: 120,323,186 (GRCm39) |
D15E |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,544,923 (GRCm39) |
Y319H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,765 (GRCm39) |
N2746D |
probably damaging |
Het |
| Fgf20 |
G |
T |
8: 40,732,932 (GRCm39) |
L115I |
possibly damaging |
Het |
| Hip1r |
C |
T |
5: 124,138,230 (GRCm39) |
R775W |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,188,158 (GRCm39) |
Y245N |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,735,917 (GRCm39) |
S672T |
probably benign |
Het |
| Morf4l2 |
A |
G |
X: 135,634,464 (GRCm39) |
Y255H |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,978,262 (GRCm39) |
V343A |
possibly damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Ofd1 |
C |
A |
X: 165,175,512 (GRCm39) |
V951F |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,772 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or51r1 |
G |
T |
7: 102,227,836 (GRCm39) |
V45F |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,108 (GRCm39) |
V202D |
possibly damaging |
Het |
| Parp12 |
G |
A |
6: 39,079,581 (GRCm39) |
R310W |
probably damaging |
Het |
| Pcdh11x |
T |
A |
X: 119,425,935 (GRCm39) |
D1019E |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,110,993 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,030,581 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
T |
A |
2: 104,617,344 (GRCm39) |
N1156I |
probably damaging |
Het |
| Rgs3 |
T |
A |
4: 62,607,912 (GRCm39) |
D59E |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,339,937 (GRCm39) |
F917S |
probably damaging |
Het |
| Sap30bp |
G |
A |
11: 115,855,078 (GRCm39) |
V263M |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,876,682 (GRCm39) |
V691E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,596 (GRCm39) |
H229N |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,436,349 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Stam |
T |
A |
2: 14,151,201 (GRCm39) |
Y519* |
probably null |
Het |
| Synj2 |
A |
G |
17: 6,069,679 (GRCm39) |
T602A |
probably damaging |
Het |
| Tas2r126 |
C |
T |
6: 42,412,391 (GRCm39) |
A308V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,745,948 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
G |
A |
7: 67,312,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,229 (GRCm39) |
I290V |
probably damaging |
Het |
| Xirp1 |
A |
C |
9: 119,847,605 (GRCm39) |
L426W |
probably damaging |
Het |
| Zgrf1 |
T |
G |
3: 127,392,423 (GRCm39) |
F430L |
possibly damaging |
Het |
|
| Other mutations in Mybphl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03389:Mybphl
|
APN |
3 |
108,283,034 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0194:Mybphl
|
UTSW |
3 |
108,281,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0206:Mybphl
|
UTSW |
3 |
108,282,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Mybphl
|
UTSW |
3 |
108,282,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Mybphl
|
UTSW |
3 |
108,282,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Mybphl
|
UTSW |
3 |
108,272,319 (GRCm39) |
missense |
probably benign |
|
|
R1223:Mybphl
|
UTSW |
3 |
108,282,512 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1748:Mybphl
|
UTSW |
3 |
108,282,400 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2013:Mybphl
|
UTSW |
3 |
108,282,718 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2102:Mybphl
|
UTSW |
3 |
108,282,949 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2121:Mybphl
|
UTSW |
3 |
108,282,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Mybphl
|
UTSW |
3 |
108,284,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Mybphl
|
UTSW |
3 |
108,272,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Mybphl
|
UTSW |
3 |
108,272,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Mybphl
|
UTSW |
3 |
108,272,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Mybphl
|
UTSW |
3 |
108,272,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Mybphl
|
UTSW |
3 |
108,281,479 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4570:Mybphl
|
UTSW |
3 |
108,272,347 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4693:Mybphl
|
UTSW |
3 |
108,282,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5759:Mybphl
|
UTSW |
3 |
108,282,070 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7017:Mybphl
|
UTSW |
3 |
108,282,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7526:Mybphl
|
UTSW |
3 |
108,281,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8266:Mybphl
|
UTSW |
3 |
108,284,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Mybphl
|
UTSW |
3 |
108,272,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Mybphl
|
UTSW |
3 |
108,282,202 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9617:Mybphl
|
UTSW |
3 |
108,282,952 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9655:Mybphl
|
UTSW |
3 |
108,282,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation