Incidental Mutation 'R6418:Mis18bp1'
| ID |
518088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
044560-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6418 (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 T
at 65205317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 2
(M2K)
|
| 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: M285K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: M285K
| 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 |
unknown
Transcript: ENSMUST00000124201
AA Change: M2K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149986
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221296
AA Change: M2K
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222244
AA Change: M285K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930507D05Rik |
C |
T |
10: 62,285,441 (GRCm39) |
A55V |
unknown |
Het |
| Adra1b |
T |
G |
11: 43,667,028 (GRCm39) |
D403A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,597,405 (GRCm39) |
L9Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,426,204 (GRCm39) |
S789R |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,482,326 (GRCm39) |
S312P |
probably damaging |
Het |
| C4bp |
C |
T |
1: 130,583,750 (GRCm39) |
V73M |
probably damaging |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,598,019 (GRCm39) |
S189P |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,957,305 (GRCm39) |
N1854K |
probably damaging |
Het |
| Chrm2 |
A |
C |
6: 36,500,674 (GRCm39) |
Y177S |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Csad |
A |
G |
15: 102,087,958 (GRCm39) |
S322P |
probably damaging |
Het |
| Depdc1b |
T |
G |
13: 108,493,956 (GRCm39) |
Y115D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,020,023 (GRCm39) |
Y8C |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,656,817 (GRCm39) |
|
probably null |
Het |
| Elf5 |
A |
G |
2: 103,269,697 (GRCm39) |
T93A |
possibly damaging |
Het |
| Eogt |
C |
T |
6: 97,122,353 (GRCm39) |
D27N |
possibly damaging |
Het |
| Fam118b |
T |
C |
9: 35,146,633 (GRCm39) |
D78G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,166 (GRCm39) |
M470K |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,337,781 (GRCm39) |
T25A |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Golm1 |
T |
C |
13: 59,813,375 (GRCm39) |
Y32C |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,070,207 (GRCm39) |
V238E |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,219,583 (GRCm39) |
R907G |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Krtap24-1 |
C |
T |
16: 88,408,761 (GRCm39) |
V122I |
probably damaging |
Het |
| Lrrc10 |
T |
G |
10: 116,881,616 (GRCm39) |
L97V |
probably damaging |
Het |
| Map3k20 |
T |
A |
2: 72,232,457 (GRCm39) |
M371K |
probably benign |
Het |
| Mob3b |
T |
A |
4: 34,954,049 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,570,607 (GRCm39) |
T556A |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,224,032 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
A |
T |
5: 45,839,158 (GRCm39) |
L519F |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,453,778 (GRCm39) |
S265P |
probably benign |
Het |
| Or13p10 |
T |
A |
4: 118,522,808 (GRCm39) |
F31L |
possibly damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,823 (GRCm39) |
K185R |
probably damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,817 (GRCm39) |
V82A |
probably benign |
Het |
| Or52e5 |
T |
C |
7: 104,719,514 (GRCm39) |
L280P |
probably damaging |
Het |
| Or8g35 |
C |
A |
9: 39,381,112 (GRCm39) |
K303N |
probably benign |
Het |
| Osgin2 |
T |
C |
4: 16,006,410 (GRCm39) |
T95A |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,858,108 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,879,046 (GRCm39) |
G867D |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,959 (GRCm39) |
S476P |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,623,197 (GRCm39) |
I619T |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,105,256 (GRCm39) |
R343C |
probably damaging |
Het |
| Rab2b |
T |
A |
14: 52,506,164 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,373,092 (GRCm39) |
E972V |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,686,228 (GRCm39) |
C337F |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,751 (GRCm39) |
S393P |
probably damaging |
Het |
| Stkld1 |
A |
T |
2: 26,831,093 (GRCm39) |
N90I |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,053,126 (GRCm39) |
R3406S |
probably benign |
Het |
| Svil |
A |
T |
18: 5,040,171 (GRCm39) |
D48V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,555,081 (GRCm39) |
K268* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,661,326 (GRCm39) |
L618P |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
C |
A |
6: 136,378,099 (GRCm39) |
D244Y |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,899,791 (GRCm39) |
H1101R |
probably benign |
Het |
| Upf2 |
G |
A |
2: 6,032,150 (GRCm39) |
V899I |
unknown |
Het |
| Ush2a |
A |
T |
1: 188,360,763 (GRCm39) |
N2161I |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,859,330 (GRCm39) |
D276V |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,915 (GRCm39) |
H279L |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,818,850 (GRCm39) |
R3019W |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,486,361 (GRCm39) |
E423D |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,582 (GRCm39) |
F95I |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,915,763 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
A |
G |
7: 48,461,149 (GRCm39) |
T362A |
possibly damaging |
Het |
| Zfp984 |
C |
T |
4: 147,845,703 (GRCm39) |
S2N |
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 |
|
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 |
|
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'- ATACTTGCCTTAAAGGTCTTCCTAC -3'
(R):5'- AGTTTGGCGGACAAGTTCTTC -3'
Sequencing Primer
(F):5'- ACCGGCCAGATAGTGTTA -3'
(R):5'- GGCGGACAAGTTCTTCATTCAAAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation