Incidental Mutation 'R1223:Mybphl'
| ID |
152790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybphl
|
| Ensembl Gene |
ENSMUSG00000068745 |
| Gene Name |
myosin binding protein H-like |
| Synonyms |
1110037P11Rik |
| MMRRC Submission |
039292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1223 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108272227-108287373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108282512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 182
(T182A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090563]
|
| AlphaFold |
Q5FW53 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090563
AA Change: T182A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: T182A
| 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 |
noncoding transcript
Transcript: ENSMUST00000142833
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
T |
16: 4,116,612 (GRCm39) |
V873E |
probably damaging |
Het |
| Arl10 |
A |
G |
13: 54,726,744 (GRCm39) |
D174G |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,730 (GRCm39) |
Y592F |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,134,265 (GRCm39) |
E694G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,679,779 (GRCm39) |
Y163H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,070 (GRCm39) |
S421P |
possibly damaging |
Het |
| Cysltr2 |
A |
T |
14: 73,267,539 (GRCm39) |
V57E |
probably damaging |
Het |
| Ddx47 |
G |
A |
6: 134,989,277 (GRCm39) |
V34I |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,769,660 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
G |
T |
18: 20,706,550 (GRCm39) |
C22F |
probably benign |
Het |
| Gbp10 |
A |
C |
5: 105,366,867 (GRCm39) |
V455G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,103 (GRCm39) |
I797F |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,359,595 (GRCm39) |
V62E |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,557,838 (GRCm39) |
E58G |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,773 (GRCm39) |
I123F |
probably benign |
Het |
| Or9m1 |
G |
A |
2: 87,733,163 (GRCm39) |
P286S |
probably damaging |
Het |
| Osr1 |
C |
T |
12: 9,629,699 (GRCm39) |
L191F |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,609,720 (GRCm39) |
R406C |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,690,457 (GRCm39) |
L714F |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,755,670 (GRCm39) |
F1886S |
probably damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,306,277 (GRCm39) |
E32G |
probably damaging |
Het |
| Rnh1 |
A |
G |
7: 140,743,120 (GRCm39) |
L260P |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,975,282 (GRCm39) |
N175I |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,525 (GRCm39) |
I68F |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,515 (GRCm39) |
T325S |
probably damaging |
Het |
| Tcirg1 |
T |
C |
19: 3,948,733 (GRCm39) |
N484S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,693,431 (GRCm39) |
M1833K |
possibly damaging |
Het |
| Thoc5 |
A |
G |
11: 4,871,922 (GRCm39) |
E449G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,464 (GRCm39) |
|
probably null |
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 |
|
R1067:Mybphl
|
UTSW |
3 |
108,272,319 (GRCm39) |
missense |
probably benign |
|
|
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'- TCTCAGACACGGTGGTAGGTGATG -3'
(R):5'- TGGTAACGCTCCAGGACTGTGAAC -3'
Sequencing Primer
(F):5'- GTATTCTGTAGTGAGGTTGCCAC -3'
(R):5'- ACATGGAGCTGCCAGAAGAT -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation