Incidental Mutation 'R7103:Mis18bp1'
| ID |
551006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
045195-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65196057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 569
(E569G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052201
AA Change: E569G
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: E569G
| 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: ENSMUST00000221296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222244
|
| Meta Mutation Damage Score |
0.0902 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,628,181 (GRCm39) |
T294A |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,997,473 (GRCm39) |
V893I |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,333,908 (GRCm39) |
D656E |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,207,485 (GRCm39) |
F568S |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,747,425 (GRCm39) |
G236S |
probably damaging |
Het |
| Brd3 |
T |
A |
2: 27,340,406 (GRCm39) |
Q601L |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,379,426 (GRCm39) |
E524G |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,853 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
C |
A |
16: 64,299,120 (GRCm39) |
V415F |
unknown |
Het |
| Dmp1 |
A |
T |
5: 104,359,729 (GRCm39) |
D135V |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,786,436 (GRCm39) |
|
probably null |
Het |
| Endou |
A |
G |
15: 97,616,810 (GRCm39) |
S238P |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,651 (GRCm39) |
E779D |
unknown |
Het |
| Fcgbp |
A |
G |
7: 27,784,387 (GRCm39) |
E149G |
probably benign |
Het |
| G6pc1 |
C |
A |
11: 101,265,413 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
T |
C |
4: 131,962,179 (GRCm39) |
H160R |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,312,902 (GRCm39) |
Y22C |
unknown |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,793 (GRCm39) |
G199D |
probably benign |
Het |
| Hoxb2 |
T |
C |
11: 96,244,447 (GRCm39) |
F353L |
possibly damaging |
Het |
| Itpr2 |
C |
A |
6: 146,226,572 (GRCm39) |
V1391F |
probably damaging |
Het |
| Jakmip2 |
T |
A |
18: 43,673,648 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,164 (GRCm39) |
Y88C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,005,507 (GRCm39) |
Y89C |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,827,174 (GRCm39) |
K892N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,664,936 (GRCm39) |
S646T |
probably benign |
Het |
| Lig3 |
T |
A |
11: 82,688,138 (GRCm39) |
M709K |
probably benign |
Het |
| Mindy3 |
C |
A |
2: 12,405,885 (GRCm39) |
A137S |
possibly damaging |
Het |
| Misp |
T |
A |
10: 79,662,999 (GRCm39) |
L472Q |
probably damaging |
Het |
| Mrps5 |
A |
T |
2: 127,443,330 (GRCm39) |
T303S |
probably damaging |
Het |
| Msh3 |
T |
G |
13: 92,411,308 (GRCm39) |
I630L |
probably benign |
Het |
| Muc21 |
C |
A |
17: 35,932,432 (GRCm39) |
A585S |
unknown |
Het |
| Myo16 |
A |
G |
8: 10,619,673 (GRCm39) |
Y1408C |
unknown |
Het |
| N4bp2 |
T |
C |
5: 65,964,189 (GRCm39) |
V746A |
probably benign |
Het |
| Oga |
G |
A |
19: 45,771,605 (GRCm39) |
|
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,827 (GRCm39) |
I243T |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,752 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p56 |
A |
G |
7: 107,589,805 (GRCm39) |
T78A |
possibly damaging |
Het |
| Ostf1 |
C |
T |
19: 18,573,715 (GRCm39) |
M44I |
probably null |
Het |
| Pik3c2b |
T |
G |
1: 133,033,712 (GRCm39) |
L1572R |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,829,488 (GRCm39) |
D192G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,437,027 (GRCm39) |
I3462V |
probably benign |
Het |
| Plekhh1 |
A |
G |
12: 79,113,429 (GRCm39) |
D619G |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,297 (GRCm39) |
R446C |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,174,718 (GRCm39) |
Y797N |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,500,084 (GRCm39) |
D521G |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,708,763 (GRCm39) |
F728V |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,218,787 (GRCm39) |
S463P |
probably damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,244,693 (GRCm39) |
I634K |
probably damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,701,201 (GRCm39) |
V634A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,800,583 (GRCm39) |
M441V |
probably benign |
Het |
| Teddm3 |
A |
C |
16: 20,971,729 (GRCm39) |
L280* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,645,517 (GRCm39) |
|
probably null |
Het |
| Tom1l1 |
T |
C |
11: 90,561,907 (GRCm39) |
|
probably null |
Het |
| Topors |
C |
T |
4: 40,261,706 (GRCm39) |
G526D |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,911 (GRCm39) |
I649F |
possibly damaging |
Het |
| Ttc16 |
T |
A |
2: 32,664,440 (GRCm39) |
M66L |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,985,232 (GRCm39) |
F1619L |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,842,062 (GRCm39) |
A2619E |
|
Het |
| Vps8 |
G |
A |
16: 21,345,191 (GRCm39) |
R838H |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,215,799 (GRCm39) |
M86L |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,768,357 (GRCm39) |
D418E |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,222,606 (GRCm39) |
P362S |
possibly damaging |
Het |
| Zglp1 |
T |
C |
9: 20,977,368 (GRCm39) |
E149G |
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 |
|
R6418:Mis18bp1
|
UTSW |
12 |
65,205,317 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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'- GAGGACCGGCAATACTGTGATAC -3'
(R):5'- AGAAGACACCCGCTTCTCAG -3'
Sequencing Primer
(F):5'- CGGCAATACTGTGATACACCTATTTG -3'
(R):5'- TCTCAGTCAGAAGAGAGCTTATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation