Incidental Mutation 'R6956:Mphosph9'
ID |
541454 |
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 |
045067-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6956 (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 C
at 124435621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 604
(D604G)
|
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: D574G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031344 Gene: ENSMUSG00000038126 AA Change: D574G
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 damaging
Transcript: ENSMUST00000184951
AA Change: D604G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138982 Gene: ENSMUSG00000038126 AA Change: D604G
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 |
0.1573 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
A |
8: 111,781,762 (GRCm39) |
V945M |
probably benign |
Het |
Amotl2 |
A |
G |
9: 102,601,967 (GRCm39) |
T371A |
probably damaging |
Het |
Bmpr1a |
A |
G |
14: 34,163,132 (GRCm39) |
I86T |
possibly damaging |
Het |
C9 |
A |
T |
15: 6,474,945 (GRCm39) |
M35L |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,862,528 (GRCm39) |
P661T |
probably damaging |
Het |
Ccdc202 |
T |
A |
14: 96,119,869 (GRCm39) |
W209R |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,303,349 (GRCm39) |
S293R |
probably benign |
Het |
Dchs2 |
T |
A |
3: 83,261,233 (GRCm39) |
N2500K |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,697,282 (GRCm39) |
S92P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,616,446 (GRCm39) |
I1172F |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,471,470 (GRCm39) |
S364G |
probably damaging |
Het |
Dpp6 |
A |
T |
5: 27,803,819 (GRCm39) |
N255I |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,252,748 (GRCm39) |
I440T |
probably damaging |
Het |
Fam184b |
T |
C |
5: 45,688,099 (GRCm39) |
T937A |
probably damaging |
Het |
Fam229b |
T |
A |
10: 39,009,843 (GRCm39) |
|
probably null |
Het |
Gbp11 |
A |
G |
5: 105,476,241 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
H2-T3 |
T |
A |
17: 36,500,263 (GRCm39) |
Y144F |
probably damaging |
Het |
Kel |
T |
G |
6: 41,664,907 (GRCm39) |
D7A |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,994,668 (GRCm39) |
V166A |
probably benign |
Het |
Mapt |
T |
C |
11: 104,209,081 (GRCm39) |
|
probably null |
Het |
Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
Mboat1 |
T |
C |
13: 30,422,059 (GRCm39) |
V396A |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,556,322 (GRCm39) |
T3324A |
unknown |
Het |
Nalf1 |
T |
A |
8: 9,820,744 (GRCm39) |
Q92L |
probably benign |
Het |
Nat10 |
T |
C |
2: 103,564,757 (GRCm39) |
I495V |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,224,166 (GRCm39) |
K221N |
probably benign |
Het |
Pfkfb2 |
T |
C |
1: 130,635,337 (GRCm39) |
N75D |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 92,012,941 (GRCm39) |
|
probably null |
Het |
Scube1 |
T |
C |
15: 83,606,077 (GRCm39) |
Y65C |
probably damaging |
Het |
Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
Socs7 |
T |
C |
11: 97,267,849 (GRCm39) |
S327P |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,685,021 (GRCm39) |
D591E |
probably damaging |
Het |
Sult2a6 |
T |
A |
7: 13,988,748 (GRCm39) |
D4V |
possibly damaging |
Het |
Tdpoz8 |
T |
C |
3: 92,981,279 (GRCm39) |
V25A |
possibly damaging |
Het |
Tdrd9 |
A |
G |
12: 112,002,788 (GRCm39) |
|
probably benign |
Het |
Tgm4 |
G |
T |
9: 122,893,768 (GRCm39) |
M155I |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,036,183 (GRCm39) |
V891A |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,819,243 (GRCm39) |
E235G |
probably damaging |
Het |
Usp2 |
T |
A |
9: 44,004,053 (GRCm39) |
V533E |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,837,550 (GRCm39) |
I2665F |
probably damaging |
Het |
Vmn2r31 |
G |
A |
7: 7,397,505 (GRCm39) |
S251L |
probably benign |
Het |
Vmn2r84 |
C |
A |
10: 130,225,136 (GRCm39) |
C458F |
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 |
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 |
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'- CATAAAAGGCATGGCTTTGTGTTG -3'
(R):5'- ACGGTCCTGAGAGCATCTTTC -3'
Sequencing Primer
(F):5'- AGGCATGGCTTTGTGTTGGTTATAAC -3'
(R):5'- AGAGCATCTTTCCTTCTTACTGACAG -3'
|
Posted On |
2018-11-28 |