Incidental Mutation 'R7789:Mphosph9'
| ID |
599726 |
| 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 |
045845-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 124453650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 221
(E221Q)
|
| 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: E191Q
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: E191Q
| 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: E221Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: E221Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,175 (GRCm39) |
E163K |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,105,488 (GRCm39) |
R52S |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,623 (GRCm39) |
C328* |
probably null |
Het |
| Ankrd26 |
G |
T |
6: 118,504,760 (GRCm39) |
S716R |
possibly damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,504,759 (GRCm39) |
H717N |
probably damaging |
Het |
| Ankrd40 |
C |
A |
11: 94,225,535 (GRCm39) |
P189T |
probably damaging |
Het |
| Anln |
A |
G |
9: 22,263,333 (GRCm39) |
S113P |
|
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Asxl1 |
C |
T |
2: 153,241,943 (GRCm39) |
T832I |
probably benign |
Het |
| Bicd2 |
C |
T |
13: 49,533,135 (GRCm39) |
R574C |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,399,826 (GRCm39) |
|
probably null |
Het |
| Casr |
A |
G |
16: 36,315,653 (GRCm39) |
F806L |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,013,863 (GRCm39) |
N142K |
probably benign |
Het |
| Cbl |
C |
T |
9: 44,074,764 (GRCm39) |
D433N |
probably damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,096 (GRCm39) |
V62D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,923,532 (GRCm39) |
N18S |
probably benign |
Het |
| Cyp2j6 |
C |
T |
4: 96,433,953 (GRCm39) |
R119H |
probably benign |
Het |
| Cyp4a14 |
C |
G |
4: 115,352,107 (GRCm39) |
V102L |
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,399 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,475,729 (GRCm39) |
K534M |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,505 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,536,930 (GRCm39) |
I985T |
possibly damaging |
Het |
| Emsy |
G |
T |
7: 98,270,696 (GRCm39) |
P436Q |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,529,981 (GRCm39) |
|
probably null |
Het |
| Erc1 |
T |
A |
6: 119,750,670 (GRCm39) |
R353* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,172,385 (GRCm39) |
D2140V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,052,329 (GRCm39) |
Y218* |
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,740 (GRCm39) |
R1045H |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,147,643 (GRCm39) |
L427F |
unknown |
Het |
| Gbf1 |
T |
A |
19: 46,242,441 (GRCm39) |
L144M |
probably damaging |
Het |
| Glmn |
T |
G |
5: 107,696,941 (GRCm39) |
N592T |
probably benign |
Het |
| Golgb1 |
C |
G |
16: 36,695,761 (GRCm39) |
P87A |
unknown |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Insyn2b |
T |
A |
11: 34,352,537 (GRCm39) |
M193K |
probably benign |
Het |
| Itga9 |
T |
G |
9: 118,487,564 (GRCm39) |
F216V |
possibly damaging |
Het |
| Klhl18 |
T |
C |
9: 110,268,076 (GRCm39) |
D149G |
unknown |
Het |
| Lcat |
C |
T |
8: 106,668,857 (GRCm39) |
V114M |
probably benign |
Het |
| Lrrc8c |
C |
A |
5: 105,755,066 (GRCm39) |
N280K |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,796,806 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,529,360 (GRCm39) |
I173K |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,475,266 (GRCm39) |
V345A |
possibly damaging |
Het |
| Mok |
T |
A |
12: 110,778,261 (GRCm39) |
H215L |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Myom1 |
A |
G |
17: 71,424,431 (GRCm39) |
T1525A |
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,326,317 (GRCm39) |
S143L |
probably benign |
Het |
| Or1af1 |
C |
T |
2: 37,109,672 (GRCm39) |
T57I |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,610 (GRCm39) |
Y116* |
probably null |
Het |
| Or52d1 |
T |
A |
7: 103,756,195 (GRCm39) |
S236R |
probably damaging |
Het |
| Or7g29 |
G |
T |
9: 19,286,361 (GRCm39) |
T272K |
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,623,819 (GRCm39) |
S568G |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,183,168 (GRCm39) |
|
probably null |
Het |
| Plxnc1 |
T |
A |
10: 94,630,339 (GRCm39) |
E1520V |
probably damaging |
Het |
| Ppil3 |
G |
A |
1: 58,473,538 (GRCm39) |
T104I |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,402,534 (GRCm39) |
V118E |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,851,399 (GRCm39) |
D849G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,361,045 (GRCm39) |
|
probably null |
Het |
| Sema3f |
T |
A |
9: 107,582,631 (GRCm39) |
K37N |
probably benign |
Het |
| Sh3glb1 |
G |
T |
3: 144,397,892 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,637 (GRCm39) |
D571G |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,150 (GRCm39) |
Y874C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,782,296 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
A |
T |
7: 45,026,045 (GRCm39) |
Y441* |
probably null |
Het |
| Ssrp1 |
C |
T |
2: 84,871,525 (GRCm39) |
R316W |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,101 (GRCm39) |
V144E |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,188,117 (GRCm39) |
L562P |
|
Het |
| Trim68 |
T |
C |
7: 102,333,676 (GRCm39) |
D2G |
possibly damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,920 (GRCm39) |
H240L |
probably damaging |
Het |
| Tssc4 |
A |
G |
7: 142,623,515 (GRCm39) |
|
probably null |
Het |
| Usp7 |
T |
A |
16: 8,516,675 (GRCm39) |
Q539L |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,831 (GRCm39) |
C710S |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,614,079 (GRCm39) |
V600F |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,826,635 (GRCm39) |
V2879M |
|
Het |
| Vrtn |
T |
A |
12: 84,697,080 (GRCm39) |
M610K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,850,806 (GRCm39) |
E366G |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,040,845 (GRCm39) |
P703S |
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 |
|
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 |
|
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'- CCCACTGTACACTTCAGAGATC -3'
(R):5'- GCTTCTTTTCTGAGAACAGTGAGAG -3'
Sequencing Primer
(F):5'- CTTCAGAGATCTTGTTTTCACCAAG -3'
(R):5'- AGAAATGAGTCTGTTGTCAGTTCCCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation