Incidental Mutation 'IGL00778:Mphosph8'
| ID |
12066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mphosph8
|
| Ensembl Gene |
ENSMUSG00000079184 |
| Gene Name |
M-phase phosphoprotein 8 |
| Synonyms |
1500035L22Rik, 4930548G07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
IGL00778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56905705-56934887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56911900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 308
(I308V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116468]
|
| AlphaFold |
Q3TYA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116468
AA Change: I308V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: I308V
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
| Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
| Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
| Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
| Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
| Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
| Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
| Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
| Other mutations in Mphosph8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation