Incidental Mutation 'IGL02664:Mis18bp1'
| ID |
302660 |
| 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 # |
IGL02664
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 65200654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 407
(Y407*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000124201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052201
AA Change: Y407*
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: Y407*
| 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: ENSMUST00000124201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149986
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221296
AA Change: Y124*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222244
AA Change: Y407*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
T |
5: 36,006,860 (GRCm39) |
D425V |
probably damaging |
Het |
| Afdn |
G |
T |
17: 14,072,728 (GRCm39) |
|
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,490,814 (GRCm39) |
D453G |
probably damaging |
Het |
| Ap2a2 |
C |
T |
7: 141,209,136 (GRCm39) |
T776I |
probably benign |
Het |
| Apcdd1 |
T |
C |
18: 63,084,891 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,188,047 (GRCm39) |
Y1513N |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,955,828 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,068,922 (GRCm39) |
M917L |
possibly damaging |
Het |
| Cmtm6 |
T |
C |
9: 114,575,613 (GRCm39) |
V174A |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,443,535 (GRCm39) |
I448K |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,247 (GRCm39) |
I101V |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,671,388 (GRCm39) |
Y961H |
probably damaging |
Het |
| Dnaaf1 |
T |
G |
8: 120,309,260 (GRCm39) |
I116S |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,854,451 (GRCm39) |
I5F |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,732,538 (GRCm39) |
E691G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,922 (GRCm39) |
V384A |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,420,439 (GRCm39) |
M391T |
probably damaging |
Het |
| Gab2 |
T |
G |
7: 96,953,389 (GRCm39) |
S587R |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,809 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,426 (GRCm39) |
R1559* |
probably null |
Het |
| Inpp5f |
G |
A |
7: 128,265,738 (GRCm39) |
R161H |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,203,217 (GRCm39) |
D31V |
possibly damaging |
Het |
| Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
| Lce6a |
A |
T |
3: 92,527,607 (GRCm39) |
C67S |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,233,038 (GRCm39) |
I800V |
possibly damaging |
Het |
| Mllt3 |
A |
C |
4: 87,949,860 (GRCm39) |
W29G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,845,401 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
C |
T |
15: 55,483,039 (GRCm39) |
T372M |
probably benign |
Het |
| Nefm |
A |
T |
14: 68,357,664 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,335,424 (GRCm39) |
|
probably null |
Het |
| Nf1 |
G |
A |
11: 79,335,425 (GRCm39) |
|
probably null |
Het |
| Ntn1 |
T |
A |
11: 68,276,295 (GRCm39) |
I218F |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,648,109 (GRCm39) |
S613R |
possibly damaging |
Het |
| Or14a259 |
C |
T |
7: 86,012,811 (GRCm39) |
V245I |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,434,134 (GRCm39) |
D1411E |
probably damaging |
Het |
| Prl2b1 |
G |
T |
13: 27,569,225 (GRCm39) |
N124K |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,225 (GRCm39) |
I30M |
possibly damaging |
Het |
| Rnf215 |
G |
T |
11: 4,090,307 (GRCm39) |
V342L |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,459,655 (GRCm39) |
S17R |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,036,234 (GRCm39) |
I908N |
probably damaging |
Het |
| Trim54 |
A |
G |
5: 31,293,391 (GRCm39) |
N205S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,697,795 (GRCm39) |
T80I |
possibly damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,344 (GRCm39) |
T685I |
possibly damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,414,063 (GRCm39) |
|
probably benign |
Het |
| Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
| Zfp40 |
G |
A |
17: 23,395,960 (GRCm39) |
S209F |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation