Incidental Mutation 'R7845:Mis18bp1'
ID |
606574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mis18bp1
|
Ensembl Gene |
ENSMUSG00000047534 |
Gene Name |
MIS18 binding protein 1 |
Synonyms |
C79407 |
MMRRC Submission |
045899-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7845 (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 G
at 65196102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 554
(I554T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
AlphaFold |
Q80WQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052201
AA Change: I554T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000052109 Gene: ENSMUSG00000047534 AA Change: I554T
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 |
noncoding transcript
Transcript: ENSMUST00000140391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149986
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222244
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,229 (GRCm39) |
H483R |
probably damaging |
Het |
Acot2 |
G |
T |
12: 84,039,762 (GRCm39) |
G424* |
probably null |
Het |
Adat2 |
G |
T |
10: 13,428,741 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,308 (GRCm39) |
Y157C |
unknown |
Het |
Bglap2 |
T |
A |
3: 88,286,001 (GRCm39) |
|
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,535,734 (GRCm39) |
L495P |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,315,139 (GRCm39) |
D275G |
probably benign |
Het |
Cpne2 |
A |
G |
8: 95,277,832 (GRCm39) |
N72S |
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,871,977 (GRCm39) |
F628S |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,869,318 (GRCm39) |
S644T |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,061,259 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
G |
13: 9,659,080 (GRCm39) |
S860G |
probably damaging |
Het |
Dnajc21 |
T |
G |
15: 10,447,227 (GRCm39) |
H507P |
probably damaging |
Het |
Eif2ak2 |
G |
T |
17: 79,171,327 (GRCm39) |
Q359K |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,663,712 (GRCm39) |
E448G |
probably benign |
Het |
Exoc3l |
G |
C |
8: 106,016,782 (GRCm39) |
S677R |
probably damaging |
Het |
Fads1 |
T |
A |
19: 10,171,405 (GRCm39) |
H345Q |
probably damaging |
Het |
Fam118a |
T |
A |
15: 84,930,052 (GRCm39) |
D93E |
possibly damaging |
Het |
Fam135a |
T |
C |
1: 24,068,738 (GRCm39) |
I710M |
probably benign |
Het |
Fbxw14 |
T |
A |
9: 109,116,671 (GRCm39) |
I13F |
probably damaging |
Het |
Gemin6 |
A |
G |
17: 80,533,090 (GRCm39) |
S8G |
probably benign |
Het |
Ints2 |
A |
T |
11: 86,129,089 (GRCm39) |
M498K |
possibly damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Mast1 |
C |
A |
8: 85,651,954 (GRCm39) |
E343* |
probably null |
Het |
Micu1 |
T |
C |
10: 59,675,607 (GRCm39) |
|
probably null |
Het |
Mrps28 |
T |
A |
3: 8,988,775 (GRCm39) |
N28Y |
possibly damaging |
Het |
Mtpap |
T |
A |
18: 4,387,134 (GRCm39) |
S395T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,552,069 (GRCm39) |
H4741Q |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
T |
C |
4: 118,584,158 (GRCm39) |
M238T |
probably benign |
Het |
Or4k44 |
C |
A |
2: 111,368,512 (GRCm39) |
G41* |
probably null |
Het |
Or51f23 |
G |
A |
7: 102,453,492 (GRCm39) |
R269Q |
not run |
Het |
Ptx4 |
T |
C |
17: 25,343,928 (GRCm39) |
Y393H |
possibly damaging |
Het |
Ranbp2 |
G |
A |
10: 58,282,844 (GRCm39) |
V15M |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,678,421 (GRCm39) |
A790S |
probably benign |
Het |
Rfx6 |
T |
A |
10: 51,554,122 (GRCm39) |
S73T |
probably benign |
Het |
Sec14l3 |
T |
A |
11: 4,017,972 (GRCm39) |
M84K |
probably benign |
Het |
Sec23b |
T |
A |
2: 144,401,316 (GRCm39) |
V59E |
possibly damaging |
Het |
Slc2a1 |
T |
C |
4: 118,993,125 (GRCm39) |
V425A |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,832,758 (GRCm39) |
V89D |
probably benign |
Het |
Stra8 |
A |
G |
6: 34,907,899 (GRCm39) |
D117G |
probably benign |
Het |
Syt17 |
A |
T |
7: 118,009,194 (GRCm39) |
I338N |
possibly damaging |
Het |
Tas2r136 |
T |
A |
6: 132,754,833 (GRCm39) |
Y98F |
probably benign |
Het |
Tsks |
C |
A |
7: 44,603,168 (GRCm39) |
|
probably null |
Het |
Wdr62 |
A |
G |
7: 29,964,667 (GRCm39) |
V359A |
possibly damaging |
Het |
Xrcc6 |
T |
C |
15: 81,900,678 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCAGTTTTGAGGGCAAC -3'
(R):5'- TGATCCCTTGAACTCACTGGAAC -3'
Sequencing Primer
(F):5'- CAGTTTTGAGGGCAACTTGTTC -3'
(R):5'- TGGAACAGCCTACCTCCG -3'
|
Posted On |
2019-12-20 |