Incidental Mutation 'IGL02318:Mis18bp1'
ID |
288119 |
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 # |
IGL02318
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 65205515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 219
(I219S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000124201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
AlphaFold |
Q80WQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052201
AA Change: I219S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000052109 Gene: ENSMUSG00000047534 AA Change: I219S
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 benign
Transcript: ENSMUST00000221296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222244
AA Change: I219S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
G |
5: 138,561,838 (GRCm39) |
F116S |
probably damaging |
Het |
Abhd18 |
G |
A |
3: 40,884,662 (GRCm39) |
|
probably null |
Het |
Akr1c6 |
G |
T |
13: 4,488,496 (GRCm39) |
C34F |
probably benign |
Het |
Ankef1 |
T |
A |
2: 136,386,695 (GRCm39) |
I180N |
possibly damaging |
Het |
Ap1b1 |
G |
A |
11: 4,969,294 (GRCm39) |
V217I |
probably benign |
Het |
Arhgap27 |
T |
C |
11: 103,223,989 (GRCm39) |
Q608R |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,170,627 (GRCm39) |
T1136A |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,604,250 (GRCm39) |
Y1323* |
probably null |
Het |
Bsx |
A |
C |
9: 40,785,517 (GRCm39) |
Q15P |
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,881,764 (GRCm39) |
I410V |
probably null |
Het |
Cfhr4 |
T |
A |
1: 139,708,835 (GRCm39) |
E24D |
probably benign |
Het |
Col20a1 |
A |
G |
2: 180,648,952 (GRCm39) |
D945G |
probably damaging |
Het |
Cox20 |
A |
G |
1: 178,150,043 (GRCm39) |
|
probably null |
Het |
Cplane1 |
A |
G |
15: 8,204,509 (GRCm39) |
K96E |
probably damaging |
Het |
Cpne9 |
A |
G |
6: 113,270,699 (GRCm39) |
D305G |
possibly damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,439,444 (GRCm39) |
T33A |
probably benign |
Het |
Dvl3 |
A |
G |
16: 20,342,493 (GRCm39) |
R149G |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,163,446 (GRCm39) |
I1624V |
possibly damaging |
Het |
Echs1 |
A |
T |
7: 139,691,623 (GRCm39) |
L167Q |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,192,868 (GRCm39) |
N358K |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,748,795 (GRCm39) |
I230V |
probably benign |
Het |
Fut10 |
A |
G |
8: 31,726,286 (GRCm39) |
Y347C |
probably damaging |
Het |
Gfm2 |
C |
A |
13: 97,299,483 (GRCm39) |
N401K |
probably damaging |
Het |
Gm4795 |
C |
T |
10: 44,882,735 (GRCm39) |
|
noncoding transcript |
Het |
Gm5592 |
C |
A |
7: 40,936,212 (GRCm39) |
T238N |
probably benign |
Het |
Gm9892 |
T |
C |
8: 52,649,260 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
G |
T |
18: 10,469,388 (GRCm39) |
M134I |
possibly damaging |
Het |
Grk3 |
A |
G |
5: 113,085,669 (GRCm39) |
Y314H |
probably damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,669 (GRCm39) |
I215T |
probably damaging |
Het |
Ilkap |
A |
G |
1: 91,312,960 (GRCm39) |
|
probably null |
Het |
Inpp4a |
T |
C |
1: 37,407,384 (GRCm39) |
Y233H |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,137,502 (GRCm39) |
|
probably benign |
Het |
Luc7l3 |
C |
T |
11: 94,183,819 (GRCm39) |
R440Q |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,806,768 (GRCm39) |
E1581K |
probably damaging |
Het |
Nfs1 |
T |
A |
2: 155,966,191 (GRCm39) |
Q458L |
probably damaging |
Het |
Numb |
A |
T |
12: 83,878,692 (GRCm39) |
|
probably null |
Het |
Nxf1 |
G |
A |
19: 8,741,514 (GRCm39) |
|
probably null |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or52z1 |
A |
G |
7: 103,437,475 (GRCm39) |
V3A |
probably benign |
Het |
Pacc1 |
A |
G |
1: 191,080,605 (GRCm39) |
E275G |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,152,550 (GRCm39) |
Y371F |
possibly damaging |
Het |
Phlpp2 |
G |
T |
8: 110,666,505 (GRCm39) |
L1011F |
probably benign |
Het |
Potefam3e |
T |
C |
8: 19,797,815 (GRCm39) |
|
probably null |
Het |
Prss27 |
G |
T |
17: 24,264,571 (GRCm39) |
V245L |
probably benign |
Het |
Rbm7 |
T |
C |
9: 48,405,411 (GRCm39) |
N56S |
probably damaging |
Het |
Rftn1 |
T |
C |
17: 50,343,998 (GRCm39) |
I97V |
possibly damaging |
Het |
Ric3 |
T |
C |
7: 108,647,287 (GRCm39) |
T178A |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,104,323 (GRCm39) |
|
probably benign |
Het |
Sall2 |
T |
C |
14: 52,553,022 (GRCm39) |
T56A |
probably damaging |
Het |
Sgk1 |
T |
C |
10: 21,871,440 (GRCm39) |
S60P |
probably damaging |
Het |
Smarcad1 |
G |
A |
6: 65,050,223 (GRCm39) |
A281T |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,002,029 (GRCm39) |
H53R |
possibly damaging |
Het |
Thbs4 |
T |
C |
13: 92,900,092 (GRCm39) |
D468G |
probably damaging |
Het |
Tmem108 |
A |
T |
9: 103,376,981 (GRCm39) |
V156E |
probably benign |
Het |
Tnfaip3 |
T |
G |
10: 18,880,215 (GRCm39) |
R617S |
probably benign |
Het |
Traf3 |
A |
G |
12: 111,204,031 (GRCm39) |
M7V |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,809,741 (GRCm39) |
I1237N |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,718,795 (GRCm39) |
V716A |
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 |
|
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 |
2015-04-16 |