Incidental Mutation 'R9007:Mis18bp1'
| ID |
685375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
068837-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65180616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 955
(S955L)
|
| 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: S955L
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: S955L
| 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 |
probably benign
Transcript: ENSMUST00000221175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222540
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,226,935 (GRCm39) |
C497S |
probably benign |
Het |
| 4930453N24Rik |
A |
T |
16: 64,589,377 (GRCm39) |
Y92* |
probably null |
Het |
| Adam3 |
A |
G |
8: 25,205,127 (GRCm39) |
V117A |
probably benign |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,011,695 (GRCm39) |
D4V |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,988 (GRCm39) |
K692R |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,684,931 (GRCm39) |
V730A |
probably benign |
Het |
| Bdh2 |
T |
C |
3: 134,991,309 (GRCm39) |
|
probably benign |
Het |
| Ccnd3 |
T |
A |
17: 47,905,332 (GRCm39) |
|
probably null |
Het |
| Chrm4 |
T |
C |
2: 91,758,075 (GRCm39) |
V161A |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,751,892 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,930 (GRCm39) |
S349P |
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,697,370 (GRCm39) |
N244S |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,500,825 (GRCm39) |
|
probably benign |
Het |
| Dppa3 |
T |
C |
6: 122,605,724 (GRCm39) |
S93P |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,220,426 (GRCm39) |
I217T |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,416 (GRCm39) |
L141Q |
probably damaging |
Het |
| Galnt15 |
T |
C |
14: 31,771,935 (GRCm39) |
F451L |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,692,665 (GRCm39) |
R33H |
probably benign |
Het |
| Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,332,857 (GRCm39) |
D1179G |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,188,055 (GRCm39) |
T866A |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,555,150 (GRCm39) |
I678F |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,260,980 (GRCm39) |
R384* |
probably null |
Het |
| Lman2 |
T |
C |
13: 55,500,773 (GRCm39) |
D142G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,587,564 (GRCm39) |
D3897G |
|
Het |
| Lrrn1 |
T |
A |
6: 107,544,820 (GRCm39) |
I206N |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,850,143 (GRCm39) |
L802H |
probably damaging |
Het |
| Meaf6 |
T |
C |
4: 125,001,450 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
| Mocs1 |
T |
A |
17: 49,756,819 (GRCm39) |
M267K |
probably damaging |
Het |
| Mroh3 |
T |
A |
1: 136,128,110 (GRCm39) |
Y263F |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,198,878 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,492 (GRCm39) |
Y532C |
probably damaging |
Het |
| Or51b6 |
A |
G |
7: 103,556,165 (GRCm39) |
H170R |
|
Het |
| Or6c205 |
A |
T |
10: 129,086,669 (GRCm39) |
T89S |
possibly damaging |
Het |
| Ost4 |
A |
G |
5: 31,064,866 (GRCm39) |
V5A |
possibly damaging |
Het |
| P2rx1 |
T |
A |
11: 72,900,059 (GRCm39) |
C159S |
probably damaging |
Het |
| Paqr8 |
T |
C |
1: 21,005,614 (GRCm39) |
L256P |
possibly damaging |
Het |
| Pgls |
T |
A |
8: 72,048,689 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,140,864 (GRCm39) |
E566G |
possibly damaging |
Het |
| Plau |
A |
T |
14: 20,889,613 (GRCm39) |
H226L |
probably damaging |
Het |
| Rps18-ps5 |
A |
G |
13: 28,441,872 (GRCm39) |
N85S |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,675 (GRCm39) |
S174P |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,445,185 (GRCm39) |
D2410E |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,227 (GRCm39) |
M113K |
probably benign |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
| Sqor |
T |
A |
2: 122,649,876 (GRCm39) |
Y373* |
probably null |
Het |
| Stra6l |
T |
A |
4: 45,864,910 (GRCm39) |
S79T |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,915 (GRCm39) |
I1573M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,146,224 (GRCm39) |
D1674G |
possibly damaging |
Het |
| Tex26 |
C |
A |
5: 149,376,884 (GRCm39) |
T91N |
probably damaging |
Het |
| Tigd2 |
T |
G |
6: 59,187,887 (GRCm39) |
S251R |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 84,901,048 (GRCm39) |
L1585Q |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,855,542 (GRCm39) |
V31A |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,569,625 (GRCm39) |
S668P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,326,724 (GRCm39) |
D162E |
probably damaging |
Het |
| Vmn1r125 |
G |
C |
7: 21,006,503 (GRCm39) |
V134L |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,449 (GRCm39) |
F297I |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,845,006 (GRCm39) |
D2030G |
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 |
|
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 |
|
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'- CAAGTCGTCTATCAGTCAGAATTGG -3'
(R):5'- TCTGCCAACAGTGGGAAAC -3'
Sequencing Primer
(F):5'- CGTCTATCAGTCAGAATTGGAAAAG -3'
(R):5'- CAACAGTGGGAAACAACATTAAATTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation