Incidental Mutation 'R1067:Mybphl'
| ID |
86041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybphl
|
| Ensembl Gene |
ENSMUSG00000068745 |
| Gene Name |
myosin binding protein H-like |
| Synonyms |
1110037P11Rik |
| MMRRC Submission |
039153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108272227-108287373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108272319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090563]
[ENSMUST00000102632]
[ENSMUST00000135636]
|
| AlphaFold |
Q5FW53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090563
AA Change: T3A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: T3A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,957,018 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
T |
A |
8: 41,133,793 (GRCm39) |
C420* |
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,893 (GRCm39) |
G346S |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,979,529 (GRCm39) |
Q218L |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,039,034 (GRCm39) |
|
probably benign |
Het |
| Defb41 |
A |
G |
1: 18,335,248 (GRCm39) |
|
probably null |
Het |
| Edc4 |
C |
A |
8: 106,617,637 (GRCm39) |
T1094K |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
| G3bp2 |
A |
T |
5: 92,211,187 (GRCm39) |
|
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,639,204 (GRCm39) |
N888K |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,373,576 (GRCm39) |
T1471M |
probably benign |
Het |
| Kpna6 |
G |
T |
4: 129,541,896 (GRCm39) |
H500Q |
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,854,896 (GRCm39) |
Q972* |
probably null |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,589 (GRCm39) |
C97S |
unknown |
Het |
| Mapk10 |
T |
A |
5: 103,139,723 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Oca2 |
A |
G |
7: 55,966,141 (GRCm39) |
I378V |
probably damaging |
Het |
| Or7a39 |
T |
A |
10: 78,715,517 (GRCm39) |
C170* |
probably null |
Het |
| Pax6 |
C |
A |
2: 105,510,646 (GRCm39) |
Q2K |
probably benign |
Het |
| Plxna2 |
C |
A |
1: 194,462,818 (GRCm39) |
|
probably null |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,550 (GRCm39) |
L378P |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,570,646 (GRCm39) |
E2310K |
probably damaging |
Het |
| Pth2r |
G |
A |
1: 65,411,507 (GRCm39) |
G348E |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,436,769 (GRCm38) |
I251V |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,434,376 (GRCm39) |
L637P |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Syt1 |
A |
T |
10: 108,472,523 (GRCm39) |
D120E |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmbim1 |
A |
G |
1: 74,329,905 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,745 (GRCm39) |
C191Y |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,952,968 (GRCm39) |
K691E |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,728,646 (GRCm39) |
V98E |
probably damaging |
Het |
| Tspan3 |
A |
G |
9: 56,068,104 (GRCm39) |
F15L |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,252,759 (GRCm39) |
L427S |
probably damaging |
Het |
| Upf1 |
A |
C |
8: 70,791,053 (GRCm39) |
M574R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,404 (GRCm39) |
V1931E |
probably benign |
Het |
| Zfp3 |
T |
C |
11: 70,663,411 (GRCm39) |
S457P |
probably damaging |
Het |
|
| Other mutations in Mybphl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03365:Mybphl
|
APN |
3 |
108,272,314 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCAAGAGCTAACGGTGTG -3'
(R):5'- ATCACCTTCAATAGAGGGCAGGAGC -3'
Sequencing Primer
(F):5'- GTAGGGTGTCATCTCACTCACAAG -3'
(R):5'- TGCCTCCTGTTGATGTGAAGTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation