Incidental Mutation 'R6850:Mphosph9'
ID |
535589 |
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 |
044954-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6850 (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 G
at 124399019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 999
(F999L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031344
AA Change: F969L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000031344 Gene: ENSMUSG00000038126 AA Change: F969L
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: ENSMUST00000147737
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184951
AA Change: F999L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138982 Gene: ENSMUSG00000038126 AA Change: F999L
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 |
|
Meta Mutation Damage Score |
0.1664 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,270,318 (GRCm39) |
M927V |
probably benign |
Het |
Agr2 |
A |
G |
12: 36,045,558 (GRCm39) |
I15V |
probably benign |
Het |
Alpk1 |
A |
G |
3: 127,523,012 (GRCm39) |
I10T |
possibly damaging |
Het |
Art5 |
A |
G |
7: 101,747,302 (GRCm39) |
V159A |
possibly damaging |
Het |
Asz1 |
G |
A |
6: 18,108,942 (GRCm39) |
R32W |
probably benign |
Het |
Atp8b1 |
A |
C |
18: 64,689,923 (GRCm39) |
M603R |
possibly damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Car9 |
A |
G |
4: 43,507,321 (GRCm39) |
E3G |
probably damaging |
Het |
Cpne3 |
A |
T |
4: 19,535,231 (GRCm39) |
I267N |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,057,535 (GRCm39) |
F57I |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,031,604 (GRCm39) |
K980R |
probably damaging |
Het |
Dnhd1 |
G |
T |
7: 105,369,137 (GRCm39) |
G4303W |
possibly damaging |
Het |
Dnmt3a |
A |
G |
12: 3,947,600 (GRCm39) |
N485D |
probably benign |
Het |
Dusp4 |
A |
T |
8: 35,283,651 (GRCm39) |
K166* |
probably null |
Het |
Ect2 |
T |
C |
3: 27,193,034 (GRCm39) |
D344G |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,717,069 (GRCm39) |
D3G |
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,594,041 (GRCm39) |
Y710H |
probably damaging |
Het |
Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,430,152 (GRCm39) |
L263P |
probably damaging |
Het |
Iqcn |
A |
T |
8: 71,163,425 (GRCm39) |
N873Y |
probably damaging |
Het |
Itga7 |
A |
T |
10: 128,781,385 (GRCm39) |
I621F |
probably damaging |
Het |
Kcna3 |
A |
T |
3: 106,944,475 (GRCm39) |
D246V |
probably damaging |
Het |
Kctd12 |
C |
T |
14: 103,219,414 (GRCm39) |
G155S |
probably benign |
Het |
Lrtm1 |
T |
C |
14: 28,749,407 (GRCm39) |
V256A |
probably benign |
Het |
Mcf2l |
T |
C |
8: 13,059,476 (GRCm39) |
F629L |
possibly damaging |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 58,892,955 (GRCm39) |
A6764T |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,958,950 (GRCm39) |
V3643M |
possibly damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,650 (GRCm39) |
C167* |
probably null |
Het |
Or8g18 |
T |
C |
9: 39,149,271 (GRCm39) |
I150V |
probably benign |
Het |
Pdhx |
T |
C |
2: 102,871,445 (GRCm39) |
H195R |
probably damaging |
Het |
Pdilt |
A |
T |
7: 119,086,182 (GRCm39) |
V511E |
probably damaging |
Het |
Prima1 |
C |
T |
12: 103,163,594 (GRCm39) |
D126N |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Prune2 |
C |
A |
19: 17,099,552 (GRCm39) |
D1685E |
probably benign |
Het |
Ptgs2 |
A |
T |
1: 149,981,291 (GRCm39) |
I525F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,441 (GRCm39) |
F259I |
possibly damaging |
Het |
Ranbp3l |
C |
A |
15: 9,058,808 (GRCm39) |
D216E |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,330,815 (GRCm39) |
L1240Q |
possibly damaging |
Het |
Sohlh2 |
A |
T |
3: 55,099,707 (GRCm39) |
T160S |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spata31h1 |
A |
C |
10: 82,128,888 (GRCm39) |
M1374R |
possibly damaging |
Het |
Tank |
A |
G |
2: 61,480,346 (GRCm39) |
E294G |
probably benign |
Het |
Tars1 |
T |
A |
15: 11,392,885 (GRCm39) |
Y187F |
probably benign |
Het |
Tas2r144 |
T |
A |
6: 42,192,857 (GRCm39) |
M199K |
possibly damaging |
Het |
Tdrd3 |
T |
C |
14: 87,695,515 (GRCm39) |
|
probably benign |
Het |
Tecta |
T |
A |
9: 42,255,134 (GRCm39) |
D1683V |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
Tmie |
A |
G |
9: 110,695,980 (GRCm39) |
I137T |
possibly damaging |
Het |
Trim45 |
T |
A |
3: 100,830,541 (GRCm39) |
L105* |
probably null |
Het |
Trpv3 |
G |
A |
11: 73,182,519 (GRCm39) |
G568S |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,853,758 (GRCm39) |
T390A |
probably benign |
Het |
Wdr97 |
A |
G |
15: 76,241,996 (GRCm39) |
Y763C |
probably damaging |
Het |
Zfp35 |
G |
A |
18: 24,135,839 (GRCm39) |
R61H |
possibly 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 |
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 |
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'- AGGGGAGCTGTATAGAACTGTCTG -3'
(R):5'- TTCCGTGCCAGCTTTGTCAG -3'
Sequencing Primer
(F):5'- ATAGAACTGTCTGGTGGTGACAATC -3'
(R):5'- AACCATGTGACTGTGAGCTC -3'
|
Posted On |
2018-09-12 |