Incidental Mutation 'R2897:Mis18bp1'
| ID |
260866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
040485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65180360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 981
(D981G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000058889]
[ENSMUST00000222540]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052201
AA Change: D981G
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: D981G
| 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: ENSMUST00000221175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222540
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,640 (GRCm39) |
V1015A |
probably benign |
Het |
| 4930480E11Rik |
C |
T |
X: 77,413,868 (GRCm39) |
Q198* |
probably null |
Het |
| Acap3 |
G |
C |
4: 155,989,388 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
T |
C |
10: 61,040,689 (GRCm39) |
D879G |
probably damaging |
Het |
| Akap1 |
A |
T |
11: 88,735,605 (GRCm39) |
C352* |
probably null |
Het |
| Ankk1 |
T |
A |
9: 49,333,122 (GRCm39) |
T121S |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,860,438 (GRCm39) |
S2G |
probably damaging |
Het |
| Anks1 |
G |
T |
17: 28,204,337 (GRCm39) |
|
probably null |
Het |
| Apob |
G |
A |
12: 8,060,356 (GRCm39) |
G2946D |
probably damaging |
Het |
| Atm |
A |
C |
9: 53,419,105 (GRCm39) |
C782W |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,074,257 (GRCm39) |
I332N |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,152 (GRCm39) |
I406V |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,199 (GRCm39) |
D327V |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,988,341 (GRCm39) |
|
probably null |
Het |
| Chd5 |
T |
C |
4: 152,456,572 (GRCm39) |
F970L |
probably damaging |
Het |
| Coq9 |
T |
C |
8: 95,579,752 (GRCm39) |
Y236H |
probably damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,929,680 (GRCm39) |
H93R |
unknown |
Het |
| Cxcr2 |
T |
C |
1: 74,198,130 (GRCm39) |
V208A |
probably benign |
Het |
| Cyp1b1 |
G |
A |
17: 80,021,160 (GRCm39) |
T194M |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,317,061 (GRCm39) |
V79E |
probably damaging |
Het |
| Dcx |
A |
G |
X: 142,706,428 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
G |
A |
1: 162,113,643 (GRCm39) |
|
probably benign |
Het |
| Erbin |
C |
T |
13: 104,022,705 (GRCm39) |
E45K |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,532,960 (GRCm39) |
L469P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm10271 |
A |
G |
10: 116,808,495 (GRCm39) |
L7S |
probably damaging |
Het |
| Gm5087 |
T |
C |
14: 13,158,805 (GRCm38) |
|
noncoding transcript |
Het |
| Hid1 |
A |
G |
11: 115,241,356 (GRCm39) |
S645P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,678,624 (GRCm39) |
C499Y |
probably damaging |
Het |
| Ifna1 |
C |
A |
4: 88,768,450 (GRCm39) |
Q43K |
probably benign |
Het |
| Ikbkb |
G |
T |
8: 23,159,693 (GRCm39) |
Q432K |
possibly damaging |
Het |
| Inpp4a |
A |
T |
1: 37,405,675 (GRCm39) |
H148L |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,074,839 (GRCm39) |
R2338Q |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,224,667 (GRCm39) |
I1441N |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,541 (GRCm39) |
R757G |
probably benign |
Het |
| Lmx1a |
T |
A |
1: 167,658,109 (GRCm39) |
|
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,796,722 (GRCm39) |
S81T |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,063,111 (GRCm39) |
N65S |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,183,853 (GRCm39) |
I296V |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,767,565 (GRCm39) |
R184G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,822,550 (GRCm39) |
|
noncoding transcript |
Het |
| Myo6 |
T |
A |
9: 80,176,893 (GRCm39) |
|
probably null |
Het |
| Myom1 |
A |
G |
17: 71,408,215 (GRCm39) |
|
probably benign |
Het |
| Ndrg4 |
A |
G |
8: 96,405,014 (GRCm39) |
|
probably null |
Het |
| Neu2 |
A |
G |
1: 87,522,782 (GRCm39) |
S72G |
probably benign |
Het |
| Nlrc4 |
T |
A |
17: 74,755,040 (GRCm39) |
M59L |
probably benign |
Het |
| Nuak2 |
A |
T |
1: 132,252,791 (GRCm39) |
H115L |
probably damaging |
Het |
| Oog1 |
T |
A |
12: 87,655,178 (GRCm39) |
I272K |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,869,699 (GRCm39) |
F61S |
probably damaging |
Het |
| Or52a20 |
A |
T |
7: 103,366,749 (GRCm39) |
Y316F |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,516 (GRCm39) |
Y489C |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,572,651 (GRCm39) |
I344T |
probably benign |
Het |
| Pip5kl1 |
C |
A |
2: 32,473,359 (GRCm39) |
A332D |
probably benign |
Het |
| Pja1 |
T |
C |
X: 98,510,754 (GRCm39) |
E385G |
probably benign |
Het |
| Psma6 |
A |
T |
12: 55,454,829 (GRCm39) |
I53L |
probably benign |
Het |
| Ric8b |
T |
G |
10: 84,783,761 (GRCm39) |
D206E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,534,776 (GRCm39) |
T32A |
unknown |
Het |
| Shroom2 |
G |
T |
X: 151,443,035 (GRCm39) |
T710K |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,572,424 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,671,984 (GRCm39) |
S895T |
probably null |
Het |
| Sycp3 |
G |
A |
10: 88,308,544 (GRCm39) |
E205K |
possibly damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,048,654 (GRCm39) |
I333N |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmeff1 |
T |
A |
4: 48,658,831 (GRCm39) |
Y101* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,549,500 (GRCm39) |
T23399S |
probably damaging |
Het |
| Vipas39 |
A |
G |
12: 87,289,297 (GRCm39) |
V389A |
possibly damaging |
Het |
| Vps41 |
T |
C |
13: 18,994,598 (GRCm39) |
|
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,413 (GRCm39) |
H370Q |
probably damaging |
Het |
| Zfp37 |
C |
T |
4: 62,110,014 (GRCm39) |
G350D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGCATACAAACATAAGACATTG -3'
(R):5'- CGGAAAGCCCTGTTTAACAAAGG -3'
Sequencing Primer
(F):5'- TGGGAAACAAATCTGCATTCC -3'
(R):5'- AGCCCTGTTTAACAAAGGTATTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation