Incidental Mutation 'R4242:Mphosph8'
| ID |
320258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mphosph8
|
| Ensembl Gene |
ENSMUSG00000079184 |
| Gene Name |
M-phase phosphoprotein 8 |
| Synonyms |
1500035L22Rik, 4930548G07Rik |
| MMRRC Submission |
041059-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R4242 (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 56911771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 265
(S265P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116468]
|
| AlphaFold |
Q3TYA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116468
AA Change: S265P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112170
Gene: ENSMUSG00000079184
AA Change: S265P
| 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
|
| Meta Mutation Damage Score |
0.0603 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
C |
T |
5: 105,109,079 (GRCm39) |
R406H |
probably benign |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col6a2 |
C |
T |
10: 76,443,940 (GRCm39) |
|
probably null |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,065,939 (GRCm39) |
T355A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,045,297 (GRCm39) |
C148Y |
possibly damaging |
Het |
| Faim2 |
T |
A |
15: 99,398,082 (GRCm39) |
I289F |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,755 (GRCm39) |
S113P |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,064,351 (GRCm39) |
S1879P |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,564 (GRCm39) |
G64C |
probably benign |
Het |
| Klhdc7a |
G |
A |
4: 139,694,032 (GRCm39) |
P305L |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,820 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
C |
A |
14: 22,077,303 (GRCm39) |
Y13* |
probably null |
Het |
| Mad2l1bp |
T |
C |
17: 46,463,913 (GRCm39) |
E37G |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,313,968 (GRCm39) |
D99V |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,362,719 (GRCm39) |
G1302D |
possibly damaging |
Het |
| Odaph |
A |
G |
5: 92,142,749 (GRCm39) |
I104V |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,666 (GRCm39) |
V180A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,480 (GRCm39) |
I8F |
possibly damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,149,374 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,226,528 (GRCm39) |
H764Y |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,727 (GRCm39) |
F375S |
probably damaging |
Het |
| Spanxn4 |
T |
C |
12: 62,734,983 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1 |
T |
C |
X: 100,588,109 (GRCm39) |
I457T |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,705 (GRCm39) |
M233L |
probably benign |
Het |
| Trpv3 |
T |
C |
11: 73,168,649 (GRCm39) |
I72T |
probably benign |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,311,857 (GRCm39) |
F188I |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,791,672 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCTCTGAAATAATCGGTTTC -3'
(R):5'- GGTACCAGCATCCTCTTCAATAC -3'
Sequencing Primer
(F):5'- TCGGTTTCGATGTAAAGACGAAG -3'
(R):5'- GCATCCTCTTCAATACTTATAAGGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation