Incidental Mutation 'R6320:Mphosph9'
| ID |
510084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mphosph9
|
| Ensembl Gene |
ENSMUSG00000038126 |
| Gene Name |
M-phase phosphoprotein 9 |
| Synonyms |
4930548D04Rik, MPP9, B930097C17Rik, 9630025B04Rik, MPP-9 |
| MMRRC Submission |
044475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124463024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 7
(V7E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000077376]
[ENSMUST00000111477]
[ENSMUST00000130502]
[ENSMUST00000141203]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031344
AA Change: V7E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: V7E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
428 |
N/A |
INTRINSIC |
|
coiled coil region
|
574 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
898 |
N/A |
INTRINSIC |
|
low complexity region
|
957 |
971 |
N/A |
INTRINSIC |
|
coiled coil region
|
1040 |
1105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077376
|
| SMART Domains |
Protein: ENSMUSP00000076594
Gene: ENSMUSG00000047635
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:RF-1
|
51 |
174 |
7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111477
|
| SMART Domains |
Protein: ENSMUSP00000107102
Gene: ENSMUSG00000047635
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:RF-1
|
51 |
106 |
7.1e-15 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130502
AA Change: V7E
|
| SMART Domains |
Protein: ENSMUSP00000120827
Gene: ENSMUSG00000038126
AA Change: V7E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141203
AA Change: V7E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147737
AA Change: V7E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149933
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184951
AA Change: V7E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: V7E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
102 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
458 |
N/A |
INTRINSIC |
|
coiled coil region
|
604 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
987 |
1001 |
N/A |
INTRINSIC |
|
coiled coil region
|
1070 |
1135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156013
|
| Meta Mutation Damage Score |
0.0951 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
G |
T |
3: 20,369,943 (GRCm39) |
A221D |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,559,005 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
G |
A |
12: 8,039,194 (GRCm39) |
D475N |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,186 (GRCm39) |
T290I |
probably benign |
Het |
| Brd8 |
A |
T |
18: 34,746,292 (GRCm39) |
D139E |
possibly damaging |
Het |
| Cacna1e |
C |
A |
1: 154,317,270 (GRCm39) |
V1467F |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,086 (GRCm39) |
D445G |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,123 (GRCm39) |
L290H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,785,160 (GRCm39) |
Q3025K |
probably benign |
Het |
| Chi3l1 |
T |
A |
1: 134,109,996 (GRCm39) |
M1K |
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,808,737 (GRCm39) |
S1404P |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,285,006 (GRCm39) |
C3470F |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,331 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
G |
T |
2: 170,328,704 (GRCm39) |
T408K |
probably benign |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,577 (GRCm39) |
I181F |
possibly damaging |
Het |
| Dnm1l |
A |
T |
16: 16,149,952 (GRCm39) |
I268N |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,464,517 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,005,613 (GRCm39) |
F701S |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,466 (GRCm39) |
S362P |
possibly damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,830 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
C |
8: 106,063,982 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,062 (GRCm39) |
V2448D |
probably damaging |
Het |
| Gm2696 |
G |
T |
10: 77,671,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,685,874 (GRCm39) |
S214P |
possibly damaging |
Het |
| Krt6a |
A |
G |
15: 101,600,744 (GRCm39) |
V308A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,684,833 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,394,877 (GRCm39) |
N183Y |
probably benign |
Het |
| Mapk8ip3 |
C |
A |
17: 25,125,879 (GRCm39) |
G422V |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,746,325 (GRCm39) |
S97P |
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,248,900 (GRCm39) |
L711P |
probably damaging |
Het |
| Naga |
T |
A |
15: 82,216,404 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
G |
9: 44,159,980 (GRCm39) |
V380A |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,524,953 (GRCm39) |
T176S |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,115,582 (GRCm39) |
N232D |
probably benign |
Het |
| Or1j21 |
C |
G |
2: 36,683,585 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,823,418 (GRCm39) |
I92L |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,603 (GRCm39) |
F252S |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,835 (GRCm39) |
R317W |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,710,173 (GRCm39) |
C373S |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,602,327 (GRCm39) |
D39E |
probably benign |
Het |
| Psg16 |
G |
A |
7: 16,822,112 (GRCm39) |
G23D |
probably damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,349,111 (GRCm39) |
I150K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Sart3 |
A |
T |
5: 113,889,301 (GRCm39) |
Y508N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,054,148 (GRCm39) |
N267K |
probably benign |
Het |
| Slc26a7 |
A |
G |
4: 14,524,498 (GRCm39) |
I462T |
probably benign |
Het |
| Slu7 |
C |
T |
11: 43,332,316 (GRCm39) |
A244V |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,548,671 (GRCm39) |
P319L |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
| Strc |
T |
A |
2: 121,205,439 (GRCm39) |
D25V |
probably benign |
Het |
| Syne2 |
T |
G |
12: 76,108,424 (GRCm39) |
V936G |
probably damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,306,409 (GRCm39) |
|
probably benign |
Het |
| Terb1 |
C |
A |
8: 105,173,831 (GRCm39) |
D751Y |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,603,303 (GRCm39) |
Y410H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,089,043 (GRCm39) |
N333D |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,402,520 (GRCm39) |
S2438P |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,353,072 (GRCm39) |
V189A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,774,810 (GRCm39) |
G284D |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,776 (GRCm39) |
S2271P |
probably damaging |
Het |
| Zscan18 |
G |
A |
7: 12,509,147 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mphosph9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Mphosph9
|
APN |
5 |
124,400,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Mphosph9
|
APN |
5 |
124,421,687 (GRCm39) |
splice site |
probably benign |
|
|
IGL01784:Mphosph9
|
APN |
5 |
124,403,373 (GRCm39) |
splice site |
probably benign |
|
|
IGL01958:Mphosph9
|
APN |
5 |
124,463,053 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02020:Mphosph9
|
APN |
5 |
124,397,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02190:Mphosph9
|
APN |
5 |
124,403,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02261:Mphosph9
|
APN |
5 |
124,398,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02569:Mphosph9
|
APN |
5 |
124,435,634 (GRCm39) |
nonsense |
probably null |
|
|
IGL02640:Mphosph9
|
APN |
5 |
124,453,563 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02702:Mphosph9
|
APN |
5 |
124,398,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02793:Mphosph9
|
APN |
5 |
124,421,800 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02813:Mphosph9
|
APN |
5 |
124,453,691 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02875:Mphosph9
|
APN |
5 |
124,421,800 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03149:Mphosph9
|
APN |
5 |
124,401,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Mphosph9
|
UTSW |
5 |
124,436,853 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0304:Mphosph9
|
UTSW |
5 |
124,436,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0437:Mphosph9
|
UTSW |
5 |
124,453,631 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0483:Mphosph9
|
UTSW |
5 |
124,445,033 (GRCm39) |
nonsense |
probably null |
|
|
R0811:Mphosph9
|
UTSW |
5 |
124,436,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Mphosph9
|
UTSW |
5 |
124,436,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Mphosph9
|
UTSW |
5 |
124,400,100 (GRCm39) |
nonsense |
probably null |
|
|
R1175:Mphosph9
|
UTSW |
5 |
124,453,739 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1372:Mphosph9
|
UTSW |
5 |
124,421,808 (GRCm39) |
splice site |
probably null |
|
|
R1442:Mphosph9
|
UTSW |
5 |
124,403,461 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1533:Mphosph9
|
UTSW |
5 |
124,405,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Mphosph9
|
UTSW |
5 |
124,453,764 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2036:Mphosph9
|
UTSW |
5 |
124,442,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2256:Mphosph9
|
UTSW |
5 |
124,421,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2919:Mphosph9
|
UTSW |
5 |
124,399,069 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2920:Mphosph9
|
UTSW |
5 |
124,399,069 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4064:Mphosph9
|
UTSW |
5 |
124,428,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Mphosph9
|
UTSW |
5 |
124,442,266 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4430:Mphosph9
|
UTSW |
5 |
124,403,509 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4883:Mphosph9
|
UTSW |
5 |
124,437,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Mphosph9
|
UTSW |
5 |
124,442,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Mphosph9
|
UTSW |
5 |
124,453,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5993:Mphosph9
|
UTSW |
5 |
124,454,161 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6102:Mphosph9
|
UTSW |
5 |
124,435,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6295:Mphosph9
|
UTSW |
5 |
124,458,978 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6628:Mphosph9
|
UTSW |
5 |
124,436,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6692:Mphosph9
|
UTSW |
5 |
124,398,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Mphosph9
|
UTSW |
5 |
124,429,027 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6747:Mphosph9
|
UTSW |
5 |
124,435,762 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6787:Mphosph9
|
UTSW |
5 |
124,399,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6850:Mphosph9
|
UTSW |
5 |
124,399,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Mphosph9
|
UTSW |
5 |
124,435,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Mphosph9
|
UTSW |
5 |
124,458,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7604:Mphosph9
|
UTSW |
5 |
124,454,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:Mphosph9
|
UTSW |
5 |
124,453,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Mphosph9
|
UTSW |
5 |
124,399,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7823:Mphosph9
|
UTSW |
5 |
124,442,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7891:Mphosph9
|
UTSW |
5 |
124,428,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Mphosph9
|
UTSW |
5 |
124,405,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Mphosph9
|
UTSW |
5 |
124,393,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Mphosph9
|
UTSW |
5 |
124,450,785 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8438:Mphosph9
|
UTSW |
5 |
124,430,455 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8692:Mphosph9
|
UTSW |
5 |
124,450,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8790:Mphosph9
|
UTSW |
5 |
124,453,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Mphosph9
|
UTSW |
5 |
124,463,027 (GRCm39) |
nonsense |
probably null |
|
|
R8847:Mphosph9
|
UTSW |
5 |
124,454,209 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9018:Mphosph9
|
UTSW |
5 |
124,436,713 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9208:Mphosph9
|
UTSW |
5 |
124,450,854 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9221:Mphosph9
|
UTSW |
5 |
124,403,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9603:Mphosph9
|
UTSW |
5 |
124,463,015 (GRCm39) |
nonsense |
probably null |
|
|
R9721:Mphosph9
|
UTSW |
5 |
124,436,738 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAACCAGCAACTATGTC -3'
(R):5'- TGGCCGGTTTACAGCAGTTC -3'
Sequencing Primer
(F):5'- CCAGCAACTATGTCACTGATTAG -3'
(R):5'- TTCAGACTCTTTGGAACTATAGCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation