Incidental Mutation 'R8210:Mphosph9'
| ID |
636110 |
| 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 |
067633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124405174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 799
(I799T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031344
AA Change: I769T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031344
Gene: ENSMUSG00000038126
AA Change: I769T
| 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: ENSMUST00000147737
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184951
AA Change: I799T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138982
Gene: ENSMUSG00000038126
AA Change: I799T
| 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: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,517,083 (GRCm39) |
P577S |
probably damaging |
Het |
| Adal |
T |
C |
2: 120,985,236 (GRCm39) |
V269A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,898,250 (GRCm39) |
T155A |
probably benign |
Het |
| Adgre1 |
A |
T |
17: 57,752,061 (GRCm39) |
E603V |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,441 (GRCm39) |
T301A |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,630,385 (GRCm39) |
A782E |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,811,925 (GRCm39) |
K1197N |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,213,207 (GRCm39) |
D46E |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,161,927 (GRCm39) |
T540A |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,163,009 (GRCm39) |
Y364H |
probably damaging |
Het |
| Bltp1 |
A |
C |
3: 37,067,030 (GRCm39) |
E73A |
|
Het |
| Cd300c2 |
C |
T |
11: 114,891,634 (GRCm39) |
G80D |
possibly damaging |
Het |
| Cebpz |
T |
C |
17: 79,230,685 (GRCm39) |
E844G |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,436 (GRCm39) |
I1199V |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,220,696 (GRCm39) |
N189S |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,924,302 (GRCm39) |
R116I |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,827,858 (GRCm39) |
M735V |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E130208F15Rik |
C |
A |
7: 30,021,619 (GRCm39) |
S93* |
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,346,104 (GRCm39) |
I92T |
|
Het |
| Eef1d |
A |
T |
15: 75,768,309 (GRCm39) |
V511D |
probably damaging |
Het |
| Efna1 |
T |
G |
3: 89,183,520 (GRCm39) |
E102A |
probably damaging |
Het |
| H2-M11 |
C |
A |
17: 36,858,860 (GRCm39) |
F133L |
probably damaging |
Het |
| Htr3b |
G |
T |
9: 48,847,343 (GRCm39) |
|
probably null |
Het |
| Kcns3 |
A |
G |
12: 11,142,253 (GRCm39) |
S149P |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,214 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,412,354 (GRCm39) |
V1317M |
probably damaging |
Het |
| Muc1 |
C |
T |
3: 89,138,906 (GRCm39) |
A505V |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,235,673 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,820,721 (GRCm39) |
D1891G |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,428,065 (GRCm39) |
H209L |
probably benign |
Het |
| Nprl2 |
A |
C |
9: 107,421,947 (GRCm39) |
Y241S |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,442 (GRCm39) |
Q368L |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,753 (GRCm39) |
M208K |
possibly damaging |
Het |
| Pcm1 |
C |
T |
8: 41,766,974 (GRCm39) |
R1593C |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,162,878 (GRCm39) |
|
probably null |
Het |
| Pnoc |
A |
G |
14: 65,642,521 (GRCm39) |
S81P |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,114,393 (GRCm39) |
D585V |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,815,148 (GRCm39) |
|
probably benign |
Het |
| Ranbp3l |
G |
T |
15: 9,065,059 (GRCm39) |
S482I |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,056,364 (GRCm39) |
F651L |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,793,675 (GRCm39) |
T151A |
unknown |
Het |
| Rnf215 |
T |
C |
11: 4,085,544 (GRCm39) |
L91P |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,099,312 (GRCm39) |
H193R |
probably benign |
Het |
| Rps17 |
C |
T |
7: 80,994,750 (GRCm39) |
V4I |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,881,728 (GRCm39) |
F234Y |
possibly damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,736 (GRCm39) |
L92P |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,632,091 (GRCm39) |
I306F |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,692 (GRCm39) |
V538A |
possibly damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,032,566 (GRCm39) |
S193N |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,097,948 (GRCm39) |
S393P |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,105,332 (GRCm39) |
I320K |
possibly damaging |
Het |
| Spata31f1a |
T |
A |
4: 42,848,542 (GRCm39) |
M1205L |
probably benign |
Het |
| Tgfbr1 |
A |
T |
4: 47,406,924 (GRCm39) |
I420F |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,658,482 (GRCm39) |
D589V |
possibly damaging |
Het |
| Trappc8 |
A |
C |
18: 21,006,938 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,791,087 (GRCm39) |
S66P |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,392,220 (GRCm39) |
V2044A |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,741,045 (GRCm39) |
E735G |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,462 (GRCm39) |
N180K |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,302,037 (GRCm39) |
V1853D |
probably damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,394,574 (GRCm39) |
V9A |
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 |
|
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 |
|
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'- TTCAAAGAGAAGGCAGACATCC -3'
(R):5'- ACATGGTTTCTAAGTCACGGTAC -3'
Sequencing Primer
(F):5'- GGCAGACATCCCAAGACAGG -3'
(R):5'- TTCTTCCAGAAGACCAGGGTTCAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation