Incidental Mutation 'R8403:Mis18bp1'
| ID |
652284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
067813-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8403 (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 65201585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 372
(I372K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000124201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052201
AA Change: I372K
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: I372K
| 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: ENSMUST00000124201
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221296
AA Change: I89K
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222244
AA Change: I372K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
A |
11: 62,140,141 (GRCm39) |
C72S |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,782 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,494,220 (GRCm39) |
I460N |
probably damaging |
Het |
| Bhmt1b |
C |
T |
18: 87,775,575 (GRCm39) |
S366F |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,327 (GRCm39) |
S223G |
possibly damaging |
Het |
| Ces2c |
T |
A |
8: 105,574,714 (GRCm39) |
V57D |
probably damaging |
Het |
| Ces2f |
T |
C |
8: 105,674,808 (GRCm39) |
V70A |
possibly damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,416 (GRCm39) |
P114S |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,484,483 (GRCm39) |
F666S |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,297 (GRCm39) |
D440V |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,585,718 (GRCm39) |
E107G |
probably damaging |
Het |
| Dop1a |
G |
T |
9: 86,382,925 (GRCm39) |
R286L |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,908 (GRCm39) |
T987I |
probably benign |
Het |
| Fastkd1 |
G |
T |
2: 69,517,425 (GRCm39) |
Y818* |
probably null |
Het |
| Fer1l4 |
A |
C |
2: 155,894,163 (GRCm39) |
F47V |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,275,790 (GRCm39) |
*125R |
probably null |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,959 (GRCm39) |
L209P |
probably damaging |
Het |
| Kcns3 |
A |
T |
12: 11,141,654 (GRCm39) |
D348E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,052,918 (GRCm39) |
I417N |
|
Het |
| Lmo7 |
T |
C |
14: 102,139,800 (GRCm39) |
S1028P |
probably benign |
Het |
| Lrrc37a |
C |
G |
11: 103,392,411 (GRCm39) |
E1005Q |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,051,348 (GRCm39) |
D34G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,948 (GRCm39) |
V274D |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,068,279 (GRCm39) |
D496G |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,905,244 (GRCm39) |
V282A |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,266,258 (GRCm39) |
V615I |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,658 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,699,364 (GRCm39) |
I2959T |
possibly damaging |
Het |
| Sema4a |
T |
G |
3: 88,359,341 (GRCm39) |
K117Q |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,139,004 (GRCm39) |
M486T |
possibly damaging |
Het |
| Sntb2 |
T |
A |
8: 107,728,166 (GRCm39) |
C371* |
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,184,044 (GRCm39) |
T529A |
probably benign |
Het |
| Tchp |
G |
T |
5: 114,846,827 (GRCm39) |
R38L |
possibly damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,773,926 (GRCm39) |
V320A |
probably benign |
Het |
| Trim50 |
A |
T |
5: 135,392,646 (GRCm39) |
D187V |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,163 (GRCm39) |
E168G |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,931,985 (GRCm39) |
I5N |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,087,175 (GRCm39) |
G446R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,001,487 (GRCm39) |
V444I |
probably benign |
Het |
| Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
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 |
|
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 |
|
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'- CAAGGGGTCGGGTCAATTTATG -3'
(R):5'- CCAAGCAGTTGAATTCTGTACTG -3'
Sequencing Primer
(F):5'- GATCCTGGGATTTATTTAGGAAAGAG -3'
(R):5'- CCCTCGTTGGCATGGAACTTAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation