Incidental Mutation 'R1973:Mis18bp1'
| ID |
221288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
039986-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1973 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to C
at 65195850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 638
(S638*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052201
AA Change: S638*
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: S638*
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
C |
5: 8,862,746 (GRCm39) |
I143L |
probably benign |
Het |
| Acp7 |
T |
A |
7: 28,307,414 (GRCm39) |
D481V |
probably damaging |
Het |
| AI597479 |
T |
A |
1: 43,150,286 (GRCm39) |
I132K |
probably benign |
Het |
| Anxa13 |
T |
C |
15: 58,228,030 (GRCm39) |
|
noncoding transcript |
Het |
| Brca1 |
A |
T |
11: 101,417,229 (GRCm39) |
C302S |
probably benign |
Het |
| Brd8 |
T |
A |
18: 34,741,066 (GRCm39) |
D420V |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,350,603 (GRCm39) |
V414E |
possibly damaging |
Het |
| Ccdc142 |
T |
A |
6: 83,079,544 (GRCm39) |
C294S |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,808,307 (GRCm39) |
S1636P |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,901,793 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,731,897 (GRCm39) |
I1452N |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
| Efl1 |
T |
C |
7: 82,412,085 (GRCm39) |
S825P |
probably damaging |
Het |
| Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
| Faxc |
G |
A |
4: 21,993,405 (GRCm39) |
E350K |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,559,653 (GRCm39) |
Y1618F |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,493,298 (GRCm39) |
T6A |
probably benign |
Het |
| Gm5814 |
A |
T |
17: 47,721,474 (GRCm39) |
M63L |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,127,281 (GRCm39) |
V359A |
probably damaging |
Het |
| Kit |
G |
A |
5: 75,776,102 (GRCm39) |
A295T |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,769,679 (GRCm39) |
A397E |
probably damaging |
Het |
| Neurl4 |
C |
T |
11: 69,800,118 (GRCm39) |
P1091S |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,074,491 (GRCm39) |
T1046A |
possibly damaging |
Het |
| Nsfl1c |
G |
T |
2: 151,347,334 (GRCm39) |
S202I |
probably damaging |
Het |
| Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,590 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,421 (GRCm39) |
V216A |
probably benign |
Het |
| Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
| Or52a20 |
T |
A |
7: 103,365,804 (GRCm39) |
M1K |
probably null |
Het |
| Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
| Or8g51 |
A |
G |
9: 38,609,164 (GRCm39) |
V170A |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,726,073 (GRCm39) |
|
probably null |
Het |
| Pnpla7 |
A |
G |
2: 24,906,629 (GRCm39) |
D664G |
probably damaging |
Het |
| Prl8a1 |
G |
A |
13: 27,760,917 (GRCm39) |
T105I |
probably benign |
Het |
| Ptger1 |
C |
A |
8: 84,396,083 (GRCm39) |
T380K |
probably benign |
Het |
| Ptk7 |
G |
A |
17: 46,897,733 (GRCm39) |
Q282* |
probably null |
Het |
| Ptpn18 |
G |
T |
1: 34,502,190 (GRCm39) |
D45Y |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,365 (GRCm39) |
D589G |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,862,496 (GRCm39) |
N299S |
possibly damaging |
Het |
| Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
| Rslcan18 |
T |
C |
13: 67,256,087 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,419 (GRCm39) |
Y731C |
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,316,501 (GRCm39) |
S1666R |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 79,423,962 (GRCm39) |
|
probably null |
Het |
| Slc22a7 |
A |
G |
17: 46,748,016 (GRCm39) |
V214A |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,882,579 (GRCm39) |
I249V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,897,478 (GRCm39) |
K446E |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,663,152 (GRCm39) |
*876C |
probably null |
Het |
| Spink11 |
A |
G |
18: 44,329,205 (GRCm39) |
C14R |
unknown |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,252 (GRCm39) |
N605S |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,605,308 (GRCm39) |
M283T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,544,706 (GRCm39) |
S32799P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,443 (GRCm39) |
I31613T |
probably damaging |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,994,757 (GRCm39) |
L52I |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,065,923 (GRCm39) |
T68A |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,002,011 (GRCm39) |
F83S |
probably benign |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Vps26c |
T |
C |
16: 94,302,405 (GRCm39) |
N267S |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,947,235 (GRCm39) |
N364D |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,348,860 (GRCm39) |
P2413Q |
unknown |
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 |
|
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 |
|
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'- GACTCTTTAGCAGAAGATCGAGGTC -3'
(R):5'- GCAATACCAAGGAGGACTGC -3'
Sequencing Primer
(F):5'- AGCAGAAGATCGAGGTCTCTTTG -3'
(R):5'- GGACTGCAATGAATGTGACATAATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation