Incidental Mutation 'R6747:Mphosph9'
| ID |
530576 |
| 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 |
044864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124435762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 557
(N557I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000130502]
[ENSMUST00000141203]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031344
AA Change: N527I
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: N527I
| 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: ENSMUST00000130502
|
| SMART Domains |
Protein: ENSMUSP00000120827
Gene: ENSMUSG00000038126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147737
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184951
AA Change: N557I
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: N557I
| 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: ENSMUST00000200448
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,919,962 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
C |
T |
12: 85,325,679 (GRCm39) |
V107I |
probably null |
Het |
| Aftph |
T |
C |
11: 20,676,144 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
A |
T |
13: 59,692,167 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,006,689 (GRCm39) |
P269T |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,235,297 (GRCm39) |
V557A |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,493 (GRCm39) |
M410K |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,759,460 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,860,262 (GRCm39) |
|
probably null |
Het |
| Cav2 |
A |
T |
6: 17,286,950 (GRCm39) |
N69Y |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,111 (GRCm39) |
C826Y |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,385,051 (GRCm39) |
T2410S |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,448 (GRCm39) |
D24G |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,163,618 (GRCm39) |
G450S |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 114,006,099 (GRCm39) |
Q534* |
probably null |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Cox4i1 |
T |
C |
8: 121,399,969 (GRCm39) |
I31T |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,477,112 (GRCm39) |
V168F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,873,154 (GRCm39) |
I352T |
probably benign |
Het |
| Ddx52 |
T |
C |
11: 83,846,128 (GRCm39) |
V456A |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,372 (GRCm39) |
H1337Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,675,221 (GRCm39) |
T369A |
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,516,422 (GRCm39) |
I8F |
unknown |
Het |
| Ebf1 |
G |
T |
11: 44,774,641 (GRCm39) |
V213F |
probably damaging |
Het |
| Foxb2 |
C |
A |
19: 16,850,197 (GRCm39) |
E270* |
probably null |
Het |
| Gclc |
A |
T |
9: 77,695,527 (GRCm39) |
R450W |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,511,692 (GRCm39) |
E251G |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,336,539 (GRCm39) |
N423Y |
probably damaging |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,917 (GRCm39) |
I185F |
unknown |
Het |
| Lrp3 |
T |
A |
7: 34,910,862 (GRCm39) |
Q61L |
probably benign |
Het |
| Met |
A |
C |
6: 17,571,466 (GRCm39) |
Q1296H |
probably damaging |
Het |
| Mrpl46 |
C |
A |
7: 78,432,729 (GRCm39) |
W16C |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,241,245 (GRCm39) |
R874Q |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,093,393 (GRCm39) |
T453I |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,843,780 (GRCm39) |
D909G |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,810,082 (GRCm39) |
E431G |
possibly damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,463,573 (GRCm39) |
D149G |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,979,234 (GRCm39) |
R55H |
probably benign |
Het |
| Or5ac21 |
T |
C |
16: 59,124,004 (GRCm39) |
F164L |
probably benign |
Het |
| Pcbp4 |
C |
A |
9: 106,337,847 (GRCm39) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,757,137 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
C |
T |
5: 143,862,237 (GRCm39) |
P154L |
probably benign |
Het |
| Pou6f2 |
A |
C |
13: 18,303,772 (GRCm39) |
L112R |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,059,548 (GRCm39) |
W420R |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,598,118 (GRCm39) |
|
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,788,207 (GRCm39) |
R12W |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,968,275 (GRCm39) |
|
probably null |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,543 (GRCm39) |
S137P |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sec23ip |
A |
G |
7: 128,354,573 (GRCm39) |
|
silent |
Het |
| Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,554,941 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
C |
A |
13: 73,826,110 (GRCm39) |
|
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,511,480 (GRCm39) |
D57G |
probably damaging |
Het |
| Sox6 |
C |
G |
7: 115,140,966 (GRCm39) |
R505P |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,387,039 (GRCm39) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 124,083,585 (GRCm39) |
R190C |
probably damaging |
Het |
| Stard9 |
A |
C |
2: 120,528,864 (GRCm39) |
H1707P |
possibly damaging |
Het |
| Tenm3 |
G |
T |
8: 48,796,278 (GRCm39) |
T237K |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,523,573 (GRCm39) |
E31V |
possibly damaging |
Het |
| Trim56 |
T |
G |
5: 137,143,375 (GRCm39) |
Q47P |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,090 (GRCm39) |
I350T |
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,649,811 (GRCm39) |
P639S |
probably benign |
Het |
| Ubxn6 |
A |
G |
17: 56,377,650 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
A |
T |
17: 23,528,850 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r29 |
T |
A |
7: 7,234,421 (GRCm39) |
M822L |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,746 (GRCm39) |
D27G |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,046,040 (GRCm39) |
R931Q |
probably damaging |
Het |
| Whamm |
G |
A |
7: 81,228,050 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,757,457 (GRCm39) |
H142R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,894 (GRCm39) |
K2050R |
probably damaging |
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 |
|
R6320:Mphosph9
|
UTSW |
5 |
124,463,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GGAGAAACATTAGCCCTCTGG -3'
(R):5'- TCGGGCTAGGAGAATGACTG -3'
Sequencing Primer
(F):5'- TGGGAGTCTCACCTGTCC -3'
(R):5'- CCCGGCTGTAACATCTTAATGAGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation