Incidental Mutation 'R8996:Mis18bp1'
| ID |
684733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
068827-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65180632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 950
(V950I)
|
| 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: V950I
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: V950I
| 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% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,769,069 (GRCm39) |
I764V |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
C |
16: 52,126,114 (GRCm39) |
I68V |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,850,696 (GRCm39) |
L75P |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,799 (GRCm39) |
N387S |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,831 (GRCm39) |
E373G |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,941,347 (GRCm39) |
H1831Y |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,255,945 (GRCm39) |
C564* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,823,543 (GRCm39) |
W1276R |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,971,105 (GRCm39) |
E3070G |
possibly damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,538 (GRCm39) |
I41T |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,323,242 (GRCm39) |
N583K |
probably damaging |
Het |
| Fignl1 |
G |
T |
11: 11,752,953 (GRCm39) |
P34Q |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,085 (GRCm39) |
D138G |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,046 (GRCm39) |
M578K |
possibly damaging |
Het |
| Gnb5 |
T |
C |
9: 75,251,805 (GRCm39) |
V351A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,531 (GRCm39) |
I245F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igkv4-54 |
A |
T |
6: 69,608,774 (GRCm39) |
Y48* |
probably null |
Het |
| Kdm7a |
A |
C |
6: 39,129,786 (GRCm39) |
H463Q |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,769,997 (GRCm39) |
T256A |
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,212,484 (GRCm39) |
D17G |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,945 (GRCm39) |
T219A |
probably benign |
Het |
| Nptx1 |
G |
A |
11: 119,438,394 (GRCm39) |
R8C |
unknown |
Het |
| Plcxd1 |
A |
G |
5: 110,250,444 (GRCm39) |
T262A |
probably benign |
Het |
| Sf1 |
G |
A |
19: 6,426,441 (GRCm39) |
G221S |
|
Het |
| Shkbp1 |
A |
G |
7: 27,042,844 (GRCm39) |
V531A |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,056,063 (GRCm39) |
E66D |
probably benign |
Het |
| Slc14a1 |
A |
T |
18: 78,156,911 (GRCm39) |
I198K |
possibly damaging |
Het |
| Spag8 |
T |
C |
4: 43,651,998 (GRCm39) |
E362G |
probably damaging |
Het |
| Speer4c1 |
T |
A |
5: 15,915,886 (GRCm39) |
I161L |
probably benign |
Het |
| Stk3 |
A |
G |
15: 34,945,208 (GRCm39) |
S427P |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,073,065 (GRCm39) |
K814E |
unknown |
Het |
| Synpo |
T |
A |
18: 60,737,230 (GRCm39) |
I239F |
possibly damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,563 (GRCm39) |
R97S |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,247 (GRCm39) |
Y56N |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,820,136 (GRCm39) |
N112S |
probably benign |
Het |
| Usp14 |
T |
C |
18: 10,000,521 (GRCm39) |
K380E |
probably benign |
Het |
| Usp17lb |
C |
T |
7: 104,490,889 (GRCm39) |
A13T |
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,268,909 (GRCm39) |
R921H |
probably damaging |
Het |
| Xndc1 |
A |
G |
7: 101,722,518 (GRCm39) |
D61G |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,946,016 (GRCm39) |
P270S |
possibly 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 |
|
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 |
|
|
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'- GCAAGTCGTCTATCAGTCAGAATTG -3'
(R):5'- TGCCAACAGTGGGAAACAAC -3'
Sequencing Primer
(F):5'- CGTCTATCAGTCAGAATTGGAAAAG -3'
(R):5'- CAACAGTGGGAAACAACATTAAATTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation