Incidental Mutation 'R8692:Mphosph9'
| ID |
668424 |
| 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 |
068546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124450875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 299
(W299R)
|
| 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 |
probably damaging
Transcript: ENSMUST00000031344
AA Change: W269R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: W269R
| 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: W299R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: W299R
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,327,874 (GRCm39) |
I1402S |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,032,409 (GRCm39) |
D736G |
probably benign |
Het |
| Acy1 |
T |
C |
9: 106,310,377 (GRCm39) |
E377G |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,058,270 (GRCm39) |
V2251M |
probably damaging |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,587,410 (GRCm39) |
K129R |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,875,793 (GRCm39) |
F259I |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,162,083 (GRCm39) |
N307S |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,423,769 (GRCm39) |
V143M |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,444 (GRCm39) |
I561K |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,472,175 (GRCm39) |
S3531A |
probably benign |
Het |
| Dnajc14 |
T |
A |
10: 128,642,900 (GRCm39) |
I274N |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,853,077 (GRCm39) |
L48S |
probably damaging |
Het |
| Efna4 |
A |
T |
3: 89,242,549 (GRCm39) |
I115N |
probably damaging |
Het |
| Ermp1 |
T |
A |
19: 29,594,093 (GRCm39) |
L692F |
probably benign |
Het |
| Fcho2 |
GT |
G |
13: 98,882,382 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,615,722 (GRCm39) |
C536S |
probably benign |
Het |
| Fermt2 |
A |
T |
14: 45,742,099 (GRCm39) |
C82* |
probably null |
Het |
| Gabra6 |
G |
T |
11: 42,210,537 (GRCm39) |
D61E |
probably damaging |
Het |
| Gdpd4 |
T |
A |
7: 97,690,140 (GRCm39) |
S611T |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
G |
A |
18: 9,726,336 (GRCm39) |
A112V |
probably benign |
Het |
| Gm2381 |
A |
T |
7: 42,472,071 (GRCm39) |
L2Q |
probably damaging |
Het |
| Hif3a |
A |
T |
7: 16,788,701 (GRCm39) |
L90Q |
probably benign |
Het |
| Irf3 |
C |
T |
7: 44,649,889 (GRCm39) |
Q168* |
probably null |
Het |
| Krt82 |
T |
G |
15: 101,456,828 (GRCm39) |
D184A |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,594,445 (GRCm39) |
S28P |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,752,443 (GRCm39) |
N197K |
probably benign |
Het |
| Mindy1 |
A |
G |
3: 95,199,587 (GRCm39) |
D243G |
probably damaging |
Het |
| Mst1r |
G |
T |
9: 107,792,050 (GRCm39) |
R862L |
possibly damaging |
Het |
| Nasp |
T |
A |
4: 116,469,280 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,414,049 (GRCm39) |
I1073T |
probably damaging |
Het |
| Nek2 |
A |
T |
1: 191,554,745 (GRCm39) |
K152N |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,960 (GRCm39) |
E68G |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,096 (GRCm39) |
I13F |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,595 (GRCm39) |
Y132C |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,955,228 (GRCm39) |
I361N |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,289,805 (GRCm39) |
S875T |
possibly damaging |
Het |
| Pde7b |
G |
T |
10: 20,423,639 (GRCm39) |
P79Q |
probably benign |
Het |
| Phb2 |
G |
A |
6: 124,692,097 (GRCm39) |
A228T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,225,971 (GRCm39) |
C888* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,462,374 (GRCm39) |
L2060Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,052 (GRCm39) |
M496V |
probably benign |
Het |
| Ppfibp1 |
C |
T |
6: 146,892,013 (GRCm39) |
T91I |
probably benign |
Het |
| Ppp1r9b |
T |
C |
11: 94,891,077 (GRCm39) |
L557P |
probably damaging |
Het |
| Ppp2r5c |
G |
T |
12: 110,489,032 (GRCm39) |
V68L |
probably benign |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,115,353 (GRCm39) |
T745I |
probably damaging |
Het |
| Rnf144a |
G |
A |
12: 26,370,972 (GRCm39) |
T163I |
probably benign |
Het |
| Sbsn |
A |
T |
7: 30,451,522 (GRCm39) |
H179L |
unknown |
Het |
| Simc1 |
G |
A |
13: 54,673,193 (GRCm39) |
V514I |
probably benign |
Het |
| Slc35d1 |
A |
G |
4: 103,047,051 (GRCm39) |
M249T |
|
Het |
| Slfn4 |
T |
A |
11: 83,079,709 (GRCm39) |
H466Q |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,808,794 (GRCm39) |
C172S |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,673,989 (GRCm39) |
I1698T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tiam2 |
A |
C |
17: 3,479,082 (GRCm39) |
D605A |
probably damaging |
Het |
| Tmed4 |
A |
T |
11: 6,223,822 (GRCm39) |
D151E |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,794,465 (GRCm39) |
I211F |
possibly damaging |
Het |
| Ttpa |
A |
G |
4: 20,008,585 (GRCm39) |
D49G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,379,325 (GRCm39) |
T1991I |
|
Het |
| Vash1 |
G |
A |
12: 86,735,863 (GRCm39) |
V250M |
possibly damaging |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,809 (GRCm39) |
*368Q |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,972 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,557 (GRCm39) |
F203L |
probably benign |
Het |
| Vmn2r13 |
G |
T |
5: 109,319,514 (GRCm39) |
Q489K |
probably benign |
Het |
| Vmn2r-ps158 |
G |
T |
7: 42,697,108 (GRCm39) |
A722S |
probably benign |
Het |
| Zfp385b |
A |
T |
2: 77,549,971 (GRCm39) |
V38E |
probably damaging |
Het |
| Zfp820 |
A |
G |
17: 22,037,876 (GRCm39) |
I484T |
probably benign |
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 |
|
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 |
|
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'- CAGCAATGTCAGTGTAACCAAC -3'
(R):5'- TATATAGCCTTGGCTGTCCCAC -3'
Sequencing Primer
(F):5'- TGTCAGTGTAACCAACAGGAGCC -3'
(R):5'- ACGTGCTGCATAGACCAGTCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation