Incidental Mutation 'R5173:Mis18bp1'
ID |
398931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mis18bp1
|
Ensembl Gene |
ENSMUSG00000047534 |
Gene Name |
MIS18 binding protein 1 |
Synonyms |
C79407 |
MMRRC Submission |
042753-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5173 (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 65196149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 538
(I538M)
|
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: I538M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052109 Gene: ENSMUSG00000047534 AA Change: I538M
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
AC |
A |
11: 9,632,032 (GRCm39) |
|
probably null |
Het |
Abca6 |
A |
T |
11: 110,082,546 (GRCm39) |
F1142L |
probably benign |
Het |
Ap1g1 |
T |
A |
8: 110,577,764 (GRCm39) |
|
probably null |
Het |
Apob |
T |
C |
12: 8,058,238 (GRCm39) |
V2207A |
probably benign |
Het |
Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
G |
11: 69,260,069 (GRCm39) |
|
probably benign |
Het |
Coch |
C |
A |
12: 51,643,290 (GRCm39) |
Y103* |
probably null |
Het |
Cul3 |
A |
T |
1: 80,259,133 (GRCm39) |
D382E |
possibly damaging |
Het |
Cul5 |
T |
C |
9: 53,554,034 (GRCm39) |
T291A |
probably benign |
Het |
Dab1 |
T |
C |
4: 104,545,645 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,190,356 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,217,474 (GRCm39) |
Y41C |
probably damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,238,841 (GRCm39) |
I45M |
probably damaging |
Het |
Epn3 |
T |
C |
11: 94,386,923 (GRCm39) |
K149R |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,455,537 (GRCm39) |
E2029G |
probably damaging |
Het |
Gm5799 |
A |
G |
14: 43,782,116 (GRCm39) |
N96S |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,762,319 (GRCm39) |
H224R |
possibly damaging |
Het |
Lpar6 |
A |
T |
14: 73,476,537 (GRCm39) |
E166V |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,360,985 (GRCm39) |
L683P |
probably damaging |
Het |
Mobp |
A |
G |
9: 119,997,311 (GRCm39) |
R77G |
possibly damaging |
Het |
Muc21 |
G |
T |
17: 35,931,633 (GRCm39) |
|
probably benign |
Het |
Mylk |
A |
G |
16: 34,797,383 (GRCm39) |
H1614R |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,334,713 (GRCm39) |
F12L |
probably benign |
Het |
Or4p18 |
G |
A |
2: 88,233,266 (GRCm39) |
T4I |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,205 (GRCm39) |
L27P |
probably damaging |
Het |
Osbpl1a |
C |
T |
18: 12,895,697 (GRCm39) |
V390I |
probably benign |
Het |
Pcdha7 |
C |
A |
18: 37,107,705 (GRCm39) |
D243E |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,168,770 (GRCm39) |
N653K |
possibly damaging |
Het |
Plin5 |
T |
G |
17: 56,422,548 (GRCm39) |
|
probably null |
Het |
Plod1 |
A |
G |
4: 148,000,758 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,149,641 (GRCm39) |
K372E |
probably damaging |
Het |
Psmd11 |
C |
T |
11: 80,351,566 (GRCm39) |
T263I |
probably benign |
Het |
Ptprt |
A |
T |
2: 161,769,676 (GRCm39) |
N396K |
probably benign |
Het |
Rab39 |
T |
C |
9: 53,597,800 (GRCm39) |
E155G |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
Rnf220 |
T |
C |
4: 117,146,471 (GRCm39) |
|
probably benign |
Het |
Rnmt |
C |
T |
18: 68,454,430 (GRCm39) |
|
probably benign |
Het |
Slc10a1 |
T |
A |
12: 81,002,802 (GRCm39) |
I279F |
probably damaging |
Het |
Sp140l1 |
G |
A |
1: 85,078,288 (GRCm39) |
R54* |
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,250 (GRCm39) |
Y99H |
probably damaging |
Het |
Tas2r144 |
T |
A |
6: 42,193,048 (GRCm39) |
F263I |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,061,768 (GRCm39) |
N399K |
possibly damaging |
Het |
Tlr9 |
T |
A |
9: 106,103,151 (GRCm39) |
V814D |
possibly damaging |
Het |
Tmem53 |
T |
A |
4: 117,122,908 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,928,337 (GRCm39) |
I511V |
possibly damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,844,935 (GRCm39) |
M766T |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,011,115 (GRCm39) |
V1027A |
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 |
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 |
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'- GCAGTTTTGAGGGCAACTTG -3'
(R):5'- CTGAAGTACCCACTGATCCC -3'
Sequencing Primer
(F):5'- TCGGGCAAGGTATCTGAATATGTC -3'
(R):5'- TGATCCCTTGAACTCACTGGAAC -3'
|
Posted On |
2016-07-06 |