Incidental Mutation 'IGL02037:Mis18bp1'
| ID |
184577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 65183522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000058889]
[ENSMUST00000222540]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052201
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058889
|
| SMART Domains |
Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
75 |
275 |
5.6e-25 |
SMART |
|
Blast:DEXDc
|
295 |
323 |
9e-6 |
BLAST |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
HELICc
|
475 |
566 |
5.64e-21 |
SMART |
|
Pfam:FANCM-MHF_bd
|
657 |
770 |
8.5e-50 |
PFAM |
|
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1178 |
N/A |
INTRINSIC |
|
PDB:4DAY|C
|
1207 |
1238 |
1e-6 |
PDB |
|
low complexity region
|
1489 |
1506 |
N/A |
INTRINSIC |
|
low complexity region
|
1572 |
1586 |
N/A |
INTRINSIC |
|
low complexity region
|
1669 |
1682 |
N/A |
INTRINSIC |
|
ERCC4
|
1780 |
1863 |
2.07e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222540
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
| Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,973,707 (GRCm39) |
T65A |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
| Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
| Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
| Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
| Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
| Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,655,708 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,483,007 (GRCm39) |
S254P |
probably benign |
Het |
| Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
| Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
| Mpeg1 |
C |
T |
19: 12,440,660 (GRCm39) |
T706I |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
| Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
| Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
| Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
| Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,098 (GRCm39) |
I343V |
probably benign |
Het |
| Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
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 |
|
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 |
|
R9299:Mis18bp1
|
UTSW |
12 |
65,185,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation