Incidental Mutation 'R4563:Mphosph8'
| ID |
343209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mphosph8
|
| Ensembl Gene |
ENSMUSG00000079184 |
| Gene Name |
M-phase phosphoprotein 8 |
| Synonyms |
1500035L22Rik, 4930548G07Rik |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56905705-56934887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56928457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 703
(Y703H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116468]
|
| AlphaFold |
Q3TYA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116468
AA Change: Y703H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: Y703H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
CHROMO
|
58 |
111 |
6.2e-13 |
SMART |
|
low complexity region
|
152 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
417 |
N/A |
INTRINSIC |
|
Blast:ANK
|
563 |
592 |
1e-7 |
BLAST |
|
ANK
|
598 |
627 |
4.43e-2 |
SMART |
|
ANK
|
631 |
660 |
5.45e-2 |
SMART |
|
ANK
|
664 |
693 |
1.08e-5 |
SMART |
|
Blast:ANK
|
697 |
726 |
5e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152606
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Mphosph8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Mphosph8
|
APN |
14 |
56,911,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00786:Mphosph8
|
APN |
14 |
56,910,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01635:Mphosph8
|
APN |
14 |
56,910,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02104:Mphosph8
|
APN |
14 |
56,912,036 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02387:Mphosph8
|
APN |
14 |
56,933,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02486:Mphosph8
|
APN |
14 |
56,925,844 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02547:Mphosph8
|
APN |
14 |
56,909,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02578:Mphosph8
|
APN |
14 |
56,911,667 (GRCm39) |
missense |
probably benign |
|
|
IGL03247:Mphosph8
|
APN |
14 |
56,916,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03377:Mphosph8
|
APN |
14 |
56,930,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Mphosph8
|
UTSW |
14 |
56,911,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0647:Mphosph8
|
UTSW |
14 |
56,911,862 (GRCm39) |
missense |
probably benign |
|
|
R1079:Mphosph8
|
UTSW |
14 |
56,911,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Mphosph8
|
UTSW |
14 |
56,905,878 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1486:Mphosph8
|
UTSW |
14 |
56,926,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Mphosph8
|
UTSW |
14 |
56,909,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Mphosph8
|
UTSW |
14 |
56,930,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Mphosph8
|
UTSW |
14 |
56,909,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Mphosph8
|
UTSW |
14 |
56,934,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Mphosph8
|
UTSW |
14 |
56,916,161 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4242:Mphosph8
|
UTSW |
14 |
56,911,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4261:Mphosph8
|
UTSW |
14 |
56,911,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Mphosph8
|
UTSW |
14 |
56,916,046 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5121:Mphosph8
|
UTSW |
14 |
56,914,003 (GRCm39) |
nonsense |
probably null |
|
|
R6082:Mphosph8
|
UTSW |
14 |
56,905,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Mphosph8
|
UTSW |
14 |
56,905,810 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6455:Mphosph8
|
UTSW |
14 |
56,925,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Mphosph8
|
UTSW |
14 |
56,905,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7236:Mphosph8
|
UTSW |
14 |
56,911,754 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7266:Mphosph8
|
UTSW |
14 |
56,922,497 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7564:Mphosph8
|
UTSW |
14 |
56,911,495 (GRCm39) |
missense |
probably benign |
|
|
R8313:Mphosph8
|
UTSW |
14 |
56,916,062 (GRCm39) |
frame shift |
probably null |
|
|
R8508:Mphosph8
|
UTSW |
14 |
56,914,003 (GRCm39) |
nonsense |
probably null |
|
|
R9428:Mphosph8
|
UTSW |
14 |
56,934,114 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTTGCTAATGCCTGTTC -3'
(R):5'- GAATCCCTGCAGATCATCTTTTCTG -3'
Sequencing Primer
(F):5'- GAGGCTTTGTCCTCTTTCACCAAG -3'
(R):5'- TTTCTGAACATTTCCTACACAAACC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation