Incidental Mutation 'R9299:Mis18bp1'
ID |
704810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mis18bp1
|
Ensembl Gene |
ENSMUSG00000047534 |
Gene Name |
MIS18 binding protein 1 |
Synonyms |
C79407 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9299 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65185538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 876
(D876E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
|
AlphaFold |
Q80WQ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052201
AA Change: D876E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000052109 Gene: ENSMUSG00000047534 AA Change: D876E
Domain | Start | End | E-Value | Type |
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
Pfam:SANTA
|
336 |
425 |
1.4e-27 |
PFAM |
coiled coil region
|
428 |
448 |
N/A |
INTRINSIC |
coiled coil region
|
645 |
668 |
N/A |
INTRINSIC |
SANT
|
742 |
794 |
9.48e-6 |
SMART |
low complexity region
|
874 |
884 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
T |
9: 57,163,792 (GRCm39) |
R861S |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,359,042 (GRCm39) |
N588I |
possibly damaging |
Het |
Adamts9 |
A |
G |
6: 92,773,976 (GRCm39) |
Y1727H |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
Alad |
C |
T |
4: 62,429,760 (GRCm39) |
|
probably null |
Het |
Anapc15-ps |
C |
A |
10: 95,509,077 (GRCm39) |
D68Y |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,862,565 (GRCm39) |
S645P |
possibly damaging |
Het |
Atp9a |
A |
T |
2: 168,554,666 (GRCm39) |
M1K |
probably null |
Het |
B020004C17Rik |
A |
T |
14: 57,254,230 (GRCm39) |
I118F |
probably damaging |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
Cdc42bpa |
C |
A |
1: 179,972,073 (GRCm39) |
L1292I |
probably damaging |
Het |
Clec2e |
A |
C |
6: 129,072,092 (GRCm39) |
F96V |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
Cyp4a10 |
A |
G |
4: 115,376,947 (GRCm39) |
M104V |
probably benign |
Het |
Cyth1 |
C |
T |
11: 118,059,837 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
Dpcd |
C |
A |
19: 45,566,009 (GRCm39) |
Q203K |
probably damaging |
Het |
Dph1 |
T |
A |
11: 75,070,622 (GRCm39) |
Q339L |
possibly damaging |
Het |
Dpy19l3 |
G |
T |
7: 35,424,752 (GRCm39) |
S187* |
probably null |
Het |
Eva1a |
G |
T |
6: 82,069,047 (GRCm39) |
A125S |
probably damaging |
Het |
Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,563,980 (GRCm39) |
T176A |
probably benign |
Het |
Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
Gm12888 |
G |
A |
4: 121,182,044 (GRCm39) |
S16F |
unknown |
Het |
Hsf5 |
T |
A |
11: 87,526,770 (GRCm39) |
C481S |
probably benign |
Het |
Ifi211 |
T |
A |
1: 173,735,288 (GRCm39) |
Q47L |
probably damaging |
Het |
Il17re |
A |
T |
6: 113,440,971 (GRCm39) |
M202L |
probably benign |
Het |
Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
Ksr2 |
G |
A |
5: 117,885,399 (GRCm39) |
|
probably null |
Het |
Lrtm1 |
C |
T |
14: 28,743,714 (GRCm39) |
P61S |
probably damaging |
Het |
Ltk |
A |
T |
2: 119,584,721 (GRCm39) |
S487R |
possibly damaging |
Het |
Nalf1 |
T |
C |
8: 9,820,156 (GRCm39) |
Y288C |
probably damaging |
Het |
Or8b39 |
A |
G |
9: 37,996,785 (GRCm39) |
T218A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,311 (GRCm39) |
N56S |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,651,885 (GRCm39) |
E118* |
probably null |
Het |
Pcdhb4 |
G |
A |
18: 37,442,264 (GRCm39) |
A525T |
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
Pla2g4e |
T |
A |
2: 120,002,204 (GRCm39) |
D617V |
probably damaging |
Het |
Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
Poteg |
A |
G |
8: 27,940,287 (GRCm39) |
Y156C |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,723,999 (GRCm39) |
S2644P |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
Slc6a21 |
T |
C |
7: 44,937,130 (GRCm39) |
V252A |
|
Het |
Slx9 |
C |
A |
10: 77,351,535 (GRCm39) |
A14S |
possibly damaging |
Het |
Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
St6galnac6 |
G |
T |
2: 32,502,345 (GRCm39) |
R78L |
probably benign |
Het |
Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,081,988 (GRCm39) |
|
probably benign |
Het |
Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,504,131 (GRCm39) |
F341S |
|
Het |
Tmem82 |
A |
T |
4: 141,343,861 (GRCm39) |
C136* |
probably null |
Het |
Tmprss11a |
A |
T |
5: 86,570,361 (GRCm39) |
C199* |
probably null |
Het |
Zbtb48 |
T |
C |
4: 152,105,147 (GRCm39) |
N505S |
possibly damaging |
Het |
Zfp385b |
A |
T |
2: 77,246,115 (GRCm39) |
V304E |
probably damaging |
Het |
|
Other mutations in Mis18bp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01329:Mis18bp1
|
APN |
12 |
65,205,215 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01383:Mis18bp1
|
APN |
12 |
65,195,763 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01736:Mis18bp1
|
APN |
12 |
65,185,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02037:Mis18bp1
|
APN |
12 |
65,183,522 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02210:Mis18bp1
|
APN |
12 |
65,183,605 (GRCm39) |
nonsense |
probably null |
|
IGL02318:Mis18bp1
|
APN |
12 |
65,205,515 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02541:Mis18bp1
|
APN |
12 |
65,208,234 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02664:Mis18bp1
|
APN |
12 |
65,200,654 (GRCm39) |
nonsense |
probably null |
|
IGL02838:Mis18bp1
|
APN |
12 |
65,183,600 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03031:Mis18bp1
|
APN |
12 |
65,208,704 (GRCm39) |
missense |
probably benign |
|
PIT4453001:Mis18bp1
|
UTSW |
12 |
65,205,447 (GRCm39) |
missense |
probably damaging |
0.98 |
R0555:Mis18bp1
|
UTSW |
12 |
65,208,227 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1169:Mis18bp1
|
UTSW |
12 |
65,190,057 (GRCm39) |
nonsense |
probably null |
|
R1517:Mis18bp1
|
UTSW |
12 |
65,180,587 (GRCm39) |
missense |
probably benign |
0.03 |
R1702:Mis18bp1
|
UTSW |
12 |
65,208,518 (GRCm39) |
missense |
probably benign |
|
R1705:Mis18bp1
|
UTSW |
12 |
65,196,113 (GRCm39) |
missense |
probably benign |
0.19 |
R1888:Mis18bp1
|
UTSW |
12 |
65,196,102 (GRCm39) |
missense |
probably benign |
0.01 |
R1888:Mis18bp1
|
UTSW |
12 |
65,196,102 (GRCm39) |
missense |
probably benign |
0.01 |
R1973:Mis18bp1
|
UTSW |
12 |
65,195,850 (GRCm39) |
nonsense |
probably null |
|
R1990:Mis18bp1
|
UTSW |
12 |
65,205,468 (GRCm39) |
missense |
probably benign |
0.03 |
R2023:Mis18bp1
|
UTSW |
12 |
65,195,883 (GRCm39) |
missense |
probably damaging |
0.97 |
R2043:Mis18bp1
|
UTSW |
12 |
65,196,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R2318:Mis18bp1
|
UTSW |
12 |
65,187,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2897:Mis18bp1
|
UTSW |
12 |
65,180,360 (GRCm39) |
missense |
probably benign |
0.09 |
R3120:Mis18bp1
|
UTSW |
12 |
65,203,762 (GRCm39) |
splice site |
probably null |
|
R3845:Mis18bp1
|
UTSW |
12 |
65,195,916 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4578:Mis18bp1
|
UTSW |
12 |
65,200,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Mis18bp1
|
UTSW |
12 |
65,205,280 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4614:Mis18bp1
|
UTSW |
12 |
65,200,303 (GRCm39) |
intron |
probably benign |
|
R4626:Mis18bp1
|
UTSW |
12 |
65,187,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Mis18bp1
|
UTSW |
12 |
65,205,513 (GRCm39) |
missense |
probably benign |
0.18 |
R4873:Mis18bp1
|
UTSW |
12 |
65,208,209 (GRCm39) |
missense |
probably benign |
0.23 |
R4875:Mis18bp1
|
UTSW |
12 |
65,208,209 (GRCm39) |
missense |
probably benign |
0.23 |
R5173:Mis18bp1
|
UTSW |
12 |
65,196,149 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5294:Mis18bp1
|
UTSW |
12 |
65,203,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R5540:Mis18bp1
|
UTSW |
12 |
65,195,520 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5560:Mis18bp1
|
UTSW |
12 |
65,199,590 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5584:Mis18bp1
|
UTSW |
12 |
65,201,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R5661:Mis18bp1
|
UTSW |
12 |
65,195,626 (GRCm39) |
missense |
probably benign |
0.41 |
R6235:Mis18bp1
|
UTSW |
12 |
65,205,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R6282:Mis18bp1
|
UTSW |
12 |
65,195,937 (GRCm39) |
missense |
probably benign |
0.01 |
R6284:Mis18bp1
|
UTSW |
12 |
65,185,561 (GRCm39) |
missense |
probably benign |
0.32 |
R6378:Mis18bp1
|
UTSW |
12 |
65,196,021 (GRCm39) |
missense |
probably benign |
0.11 |
R6418:Mis18bp1
|
UTSW |
12 |
65,205,317 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7103:Mis18bp1
|
UTSW |
12 |
65,196,057 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7244:Mis18bp1
|
UTSW |
12 |
65,208,404 (GRCm39) |
missense |
probably damaging |
0.96 |
R7371:Mis18bp1
|
UTSW |
12 |
65,205,368 (GRCm39) |
missense |
probably benign |
0.18 |
R7623:Mis18bp1
|
UTSW |
12 |
65,195,626 (GRCm39) |
missense |
probably benign |
0.05 |
R7845:Mis18bp1
|
UTSW |
12 |
65,196,102 (GRCm39) |
missense |
probably benign |
0.01 |
R7898:Mis18bp1
|
UTSW |
12 |
65,196,246 (GRCm39) |
missense |
probably benign |
0.41 |
R7912:Mis18bp1
|
UTSW |
12 |
65,199,532 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8057:Mis18bp1
|
UTSW |
12 |
65,195,673 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8403:Mis18bp1
|
UTSW |
12 |
65,201,585 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8834:Mis18bp1
|
UTSW |
12 |
65,208,419 (GRCm39) |
missense |
probably benign |
0.00 |
R8905:Mis18bp1
|
UTSW |
12 |
65,180,401 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8996:Mis18bp1
|
UTSW |
12 |
65,180,632 (GRCm39) |
missense |
probably benign |
0.24 |
R9007:Mis18bp1
|
UTSW |
12 |
65,180,616 (GRCm39) |
missense |
probably benign |
0.28 |
R9257:Mis18bp1
|
UTSW |
12 |
65,180,631 (GRCm39) |
missense |
probably benign |
0.14 |
R9534:Mis18bp1
|
UTSW |
12 |
65,205,234 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9593:Mis18bp1
|
UTSW |
12 |
65,187,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R9716:Mis18bp1
|
UTSW |
12 |
65,205,337 (GRCm39) |
start gained |
probably benign |
|
X0058:Mis18bp1
|
UTSW |
12 |
65,196,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATAACCCATAACTTGCTGAAAC -3'
(R):5'- TCTCCACAGCCTTTAGAAATAGG -3'
Sequencing Primer
(F):5'- CATAACTTGCTGAAACTAAACATGC -3'
(R):5'- CAAGAGAAAATGGTTTTTGTAGTGTC -3'
|
Posted On |
2022-03-25 |