Incidental Mutation 'R2036:Mphosph9'
| ID |
224625 |
| 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 |
040043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124442274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 358
(T358M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000130502]
[ENSMUST00000141203]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031344
AA Change: T358M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: T358M
| 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 |
probably benign
Transcript: ENSMUST00000184951
AA Change: T388M
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: T388M
| 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
|
| Meta Mutation Damage Score |
0.3379 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930415H17Rik |
C |
T |
11: 99,576,358 (GRCm39) |
C3Y |
unknown |
Het |
| Abr |
G |
T |
11: 76,343,176 (GRCm39) |
T547K |
probably benign |
Het |
| Akr1c21 |
T |
C |
13: 4,626,305 (GRCm39) |
Y110H |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,705,689 (GRCm39) |
K556* |
probably null |
Het |
| Anks1b |
T |
C |
10: 90,805,715 (GRCm39) |
V431A |
probably damaging |
Het |
| Ap5b1 |
T |
C |
19: 5,618,897 (GRCm39) |
S106P |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,917,717 (GRCm39) |
N156D |
possibly damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,297,058 (GRCm39) |
E669G |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,932,318 (GRCm39) |
M201V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,106,376 (GRCm39) |
T112M |
possibly damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,087 (GRCm39) |
N477Y |
possibly damaging |
Het |
| Brinp3 |
A |
T |
1: 146,577,579 (GRCm39) |
I205F |
possibly damaging |
Het |
| Capza2 |
T |
C |
6: 17,660,777 (GRCm39) |
F159S |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,904,221 (GRCm39) |
C61R |
probably benign |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,301,822 (GRCm39) |
I415T |
possibly damaging |
Het |
| Clnk |
A |
T |
5: 38,910,143 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
C |
T |
2: 172,943,778 (GRCm39) |
R524Q |
possibly damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,924,932 (GRCm39) |
|
probably benign |
Het |
| Ddb1 |
T |
A |
19: 10,588,186 (GRCm39) |
|
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,804,491 (GRCm39) |
Q526K |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,329,274 (GRCm39) |
Q56L |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,410 (GRCm39) |
E142G |
probably damaging |
Het |
| Dnai1 |
A |
G |
4: 41,632,225 (GRCm39) |
H553R |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,179,887 (GRCm39) |
N2908S |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,265,305 (GRCm39) |
|
probably null |
Het |
| Fut9 |
A |
G |
4: 25,620,322 (GRCm39) |
I164T |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,118 (GRCm39) |
|
probably benign |
Het |
| Gm11627 |
C |
T |
11: 102,467,580 (GRCm39) |
V33I |
unknown |
Het |
| Helz2 |
T |
A |
2: 180,879,272 (GRCm39) |
H782L |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,531 (GRCm39) |
V220A |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,515 (GRCm39) |
S303P |
possibly damaging |
Het |
| Kif22 |
A |
T |
7: 126,630,126 (GRCm39) |
V470E |
possibly damaging |
Het |
| Majin |
C |
T |
19: 6,263,342 (GRCm39) |
T132M |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,671 (GRCm39) |
|
probably null |
Het |
| Mkrn2 |
C |
A |
6: 115,588,875 (GRCm39) |
P206Q |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,318,305 (GRCm39) |
D210G |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,831,976 (GRCm39) |
V219I |
probably damaging |
Het |
| Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Or5ae2 |
G |
T |
7: 84,505,566 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
G |
C |
19: 12,658,165 (GRCm39) |
G231A |
probably damaging |
Het |
| Or5p69 |
T |
A |
7: 107,966,947 (GRCm39) |
N83K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,541 (GRCm39) |
D264N |
probably benign |
Het |
| Or9s15 |
A |
T |
1: 92,524,328 (GRCm39) |
E29V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,120,976 (GRCm39) |
Y63H |
probably damaging |
Het |
| Plekha1 |
A |
G |
7: 130,503,922 (GRCm39) |
R210G |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,748 (GRCm39) |
T369I |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,670,979 (GRCm39) |
D1029G |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,357,884 (GRCm39) |
D12G |
probably damaging |
Het |
| Rtn2 |
A |
G |
7: 19,027,664 (GRCm39) |
K120E |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,873,508 (GRCm39) |
S30P |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,986 (GRCm39) |
E795G |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,457,128 (GRCm39) |
Y177F |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,765,372 (GRCm39) |
D2529E |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,513,417 (GRCm39) |
Y409H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,058,876 (GRCm39) |
V323D |
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 |
|
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 |
|
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'- GAAAGGCAGCCTGACTCTCAA -3'
(R):5'- ATTTACTTGGGAGGAATGATAACAAAG -3'
Sequencing Primer
(F):5'- GCCTGACTCTCAAACCTAAGCTTC -3'
(R):5'- ACTTCCTTTGGTGATGAACAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation