Incidental Mutation 'R8438:Mphosph9'
| ID |
654091 |
| 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 |
067778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8438 (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 124430455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 610
(D610E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000130502]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031344
AA Change: D580E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: D580E
| 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: ENSMUST00000147737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184951
AA Change: D610E
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: D610E
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,201,962 (GRCm39) |
|
probably null |
Het |
| 5730480H06Rik |
A |
T |
5: 48,534,425 (GRCm39) |
H95L |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,966,404 (GRCm39) |
Y410H |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,996,120 (GRCm39) |
|
probably null |
Het |
| Adam8 |
C |
T |
7: 139,565,249 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
C |
T |
6: 90,536,428 (GRCm39) |
P111L |
probably damaging |
Het |
| Baz2b |
G |
T |
2: 59,747,828 (GRCm39) |
Y1278* |
probably null |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp9 |
C |
A |
4: 141,540,934 (GRCm39) |
T434N |
probably benign |
Het |
| Cd19 |
C |
A |
7: 126,013,515 (GRCm39) |
M91I |
possibly damaging |
Het |
| Celsr2 |
G |
A |
3: 108,301,139 (GRCm39) |
T2718M |
probably damaging |
Het |
| Clptm1 |
G |
T |
7: 19,379,776 (GRCm39) |
D153E |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Col1a2 |
G |
T |
6: 4,515,518 (GRCm39) |
G127V |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,385,655 (GRCm39) |
S190P |
probably benign |
Het |
| Ddrgk1 |
G |
A |
2: 130,505,302 (GRCm39) |
|
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,746,150 (GRCm39) |
H402R |
probably benign |
Het |
| Dgat2 |
T |
C |
7: 98,806,207 (GRCm39) |
Y330C |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,227,839 (GRCm39) |
C1354Y |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,388,533 (GRCm39) |
I119L |
possibly damaging |
Het |
| Entpd1 |
A |
G |
19: 40,725,224 (GRCm39) |
K437E |
possibly damaging |
Het |
| Fcgbp |
C |
T |
7: 27,789,231 (GRCm39) |
A599V |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,241,701 (GRCm39) |
S1999* |
probably null |
Het |
| Hesx1 |
C |
T |
14: 26,723,460 (GRCm39) |
R97C |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,236,609 (GRCm39) |
N229S |
probably benign |
Het |
| Itpk1 |
G |
A |
12: 102,572,418 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,878 (GRCm39) |
S276L |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,289,153 (GRCm39) |
D549G |
probably benign |
Het |
| Mef2c |
A |
G |
13: 83,804,336 (GRCm39) |
E312G |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,945,076 (GRCm39) |
K100R |
probably benign |
Het |
| Obox6 |
G |
C |
7: 15,567,853 (GRCm39) |
A198G |
probably damaging |
Het |
| Or2t43 |
A |
T |
11: 58,457,665 (GRCm39) |
S169T |
possibly damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,054 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,061 (GRCm39) |
M37K |
probably damaging |
Het |
| Or6b13 |
C |
A |
7: 139,782,170 (GRCm39) |
C171F |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,232 (GRCm39) |
N741S |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,877,379 (GRCm39) |
N575D |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,179,115 (GRCm39) |
G967W |
probably damaging |
Het |
| Ppp3cb |
C |
T |
14: 20,565,658 (GRCm39) |
M373I |
probably damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,059,202 (GRCm39) |
E156* |
probably null |
Het |
| Srrt |
A |
T |
5: 137,301,262 (GRCm39) |
Y55N |
unknown |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,743,057 (GRCm39) |
T789I |
probably damaging |
Het |
| Top3b |
G |
T |
16: 16,709,364 (GRCm39) |
S684I |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,674 (GRCm39) |
I147V |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,646 (GRCm39) |
D73V |
|
Het |
| Wasf3 |
A |
T |
5: 146,390,237 (GRCm39) |
Q127L |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,760,054 (GRCm39) |
T182A |
possibly damaging |
Het |
| Xpo7 |
C |
A |
14: 70,940,672 (GRCm39) |
R139S |
probably benign |
Het |
| Zfp687 |
A |
T |
3: 94,915,433 (GRCm39) |
S1058T |
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,934 (GRCm39) |
E668G |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,486,796 (GRCm39) |
R490S |
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 |
|
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 |
|
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'- TGCACTCCTGGTTACACAGTC -3'
(R):5'- GGCTATTTCCGAGGGATCTTTC -3'
Sequencing Primer
(F):5'- CCTGGTTACACAGTCAGTCAGTAAG -3'
(R):5'- GCCTTGCTATACTAGACTATCTGGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation