Incidental Mutation 'IGL02486:Mphosph8'
| ID |
295440 |
| 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: 0.581)
|
| Stock # |
IGL02486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56905705-56934887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56925844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 603
(V603A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116468]
|
| AlphaFold |
Q3TYA6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116468
AA Change: V603A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: V603A
| 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: ENSMUST00000152606
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
T |
A |
X: 111,424,955 (GRCm39) |
N147K |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,476,419 (GRCm39) |
P900H |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,248,318 (GRCm39) |
D201G |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,742,216 (GRCm39) |
D333V |
possibly damaging |
Het |
| Capn6 |
T |
C |
X: 142,587,673 (GRCm39) |
E535G |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,487 (GRCm39) |
V280A |
possibly damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,252,092 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
T |
C |
12: 71,993,919 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
T |
A |
5: 9,472,323 (GRCm39) |
V340E |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,934,097 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,478,109 (GRCm39) |
V2385A |
probably benign |
Het |
| Ffar4 |
T |
C |
19: 38,102,208 (GRCm39) |
I281T |
possibly damaging |
Het |
| Flcn |
C |
T |
11: 59,691,869 (GRCm39) |
W260* |
probably null |
Het |
| Fry |
T |
G |
5: 150,414,642 (GRCm39) |
S496A |
probably damaging |
Het |
| Gk |
T |
A |
X: 84,759,274 (GRCm39) |
I373F |
possibly damaging |
Het |
| Gpr108 |
T |
C |
17: 57,542,977 (GRCm39) |
N528S |
probably damaging |
Het |
| Hey1 |
T |
A |
3: 8,731,579 (GRCm39) |
R50W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,287 (GRCm39) |
Y393C |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,310,107 (GRCm39) |
E3260D |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,414,927 (GRCm39) |
I1365T |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,372,992 (GRCm39) |
R31G |
probably damaging |
Het |
| Mak16 |
T |
C |
8: 31,650,614 (GRCm39) |
|
probably benign |
Het |
| Mapkapk3 |
C |
T |
9: 107,166,467 (GRCm39) |
G26D |
probably damaging |
Het |
| Myom1 |
G |
T |
17: 71,406,939 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,172,615 (GRCm39) |
N1564I |
possibly damaging |
Het |
| Nox1 |
C |
T |
X: 132,993,560 (GRCm39) |
G433D |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,089 (GRCm39) |
F111S |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,460,112 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,617 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52m1 |
A |
T |
7: 102,289,627 (GRCm39) |
H58L |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,437,673 (GRCm39) |
W135R |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,154,954 (GRCm39) |
I205V |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,319,670 (GRCm39) |
G640E |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,051,323 (GRCm39) |
F64L |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,270 (GRCm39) |
T66A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,890,307 (GRCm39) |
S580P |
probably damaging |
Het |
| Syt15 |
G |
A |
14: 33,944,933 (GRCm39) |
R160K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,984,909 (GRCm39) |
S200P |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,318,352 (GRCm39) |
N841I |
probably damaging |
Het |
| Tnr |
G |
A |
1: 159,679,664 (GRCm39) |
|
probably null |
Het |
| Unc13d |
A |
G |
11: 115,960,632 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,228,228 (GRCm39) |
L74P |
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 |
|
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 |
2015-04-16 |
Incidental Mutation