Incidental Mutation 'R6082:Mphosph8'
ID |
482254 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mphosph8
|
Ensembl Gene |
ENSMUSG00000079184 |
Gene Name |
M-phase phosphoprotein 8 |
Synonyms |
1500035L22Rik, 4930548G07Rik |
MMRRC Submission |
044241-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
R6082 (G1)
|
Quality Score |
199.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
56905705-56934887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56905998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 64
(I64V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116468]
|
AlphaFold |
Q3TYA6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116468
AA Change: I64V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112170 Gene: ENSMUSG00000079184 AA Change: I64V
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: ENSMUST00000130246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210920
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211600
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
Gbp7 |
G |
A |
3: 142,251,697 (GRCm39) |
V515M |
probably benign |
Het |
Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
Mroh1 |
A |
G |
15: 76,314,423 (GRCm39) |
D700G |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
Ptpn11 |
T |
C |
5: 121,292,589 (GRCm39) |
T253A |
probably benign |
Het |
Rabl6 |
C |
T |
2: 25,473,837 (GRCm39) |
|
probably benign |
Het |
Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
Tnnt2 |
A |
G |
1: 135,777,172 (GRCm39) |
M199V |
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
probably null |
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 |
R4563:Mphosph8
|
UTSW |
14 |
56,928,457 (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 |
|
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'- GGCCGTTCTGTGTGTCAATC -3'
(R):5'- TCCTCTCCAGGATGTCAGTC -3'
Sequencing Primer
(F):5'- TGTGTCAATCCAGAGCTCG -3'
(R):5'- AGGATGTCAGTCTGCGCCTAC -3'
|
Posted On |
2017-07-14 |