Incidental Mutation 'R5294:Mis18bp1'
ID |
405322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mis18bp1
|
Ensembl Gene |
ENSMUSG00000047534 |
Gene Name |
MIS18 binding protein 1 |
Synonyms |
C79407 |
MMRRC Submission |
042877-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5294 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 65203817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 59
(M59R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000124201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
AlphaFold |
Q80WQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052201
AA Change: M342R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000052109 Gene: ENSMUSG00000047534 AA Change: M342R
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 damaging
Transcript: ENSMUST00000221296
AA Change: M59R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222244
AA Change: M342R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.8195 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
97% (70/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAAGGCACTGATGTCATG -3'
(R):5'- AGCCATATAGTACAGCCTCAGTTAAG -3'
Sequencing Primer
(F):5'- GCAAGGCACTGATGTCATGTTTTAC -3'
(R):5'- GTACAGCCTCAGTTAAGTTTCTG -3'
|
Posted On |
2016-07-22 |