Incidental Mutation 'R4590:Mis18bp1'
| ID |
342770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4590 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65205280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 14
(N14K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
[ENSMUST00000124201]
[ENSMUST00000221296]
[ENSMUST00000222244]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052201
AA Change: N297K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: N297K
| 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 |
unknown
Transcript: ENSMUST00000124201
AA Change: N14K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149986
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221296
AA Change: N14K
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222244
AA Change: N297K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
A |
18: 36,716,697 (GRCm39) |
D201E |
probably damaging |
Het |
| Ano10 |
T |
A |
9: 122,086,231 (GRCm39) |
Q398L |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,555,646 (GRCm39) |
L319* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,312,265 (GRCm39) |
M1575V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,949,862 (GRCm39) |
Y315* |
probably null |
Het |
| Cndp2 |
C |
A |
18: 84,687,933 (GRCm39) |
V353F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,028 (GRCm39) |
N298I |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,129,695 (GRCm39) |
C1173S |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,931,218 (GRCm39) |
M1993V |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,363,237 (GRCm39) |
V3933A |
probably damaging |
Het |
| Dnpep |
C |
A |
1: 75,293,045 (GRCm39) |
V76L |
probably damaging |
Het |
| Dsc3 |
A |
C |
18: 20,122,752 (GRCm39) |
C57W |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,028,564 (GRCm39) |
S222P |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,803,600 (GRCm39) |
Y1009C |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,234,093 (GRCm39) |
I122V |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,364 (GRCm39) |
V211E |
probably damaging |
Het |
| Flvcr1 |
T |
C |
1: 190,744,343 (GRCm39) |
T402A |
probably benign |
Het |
| Frmd5 |
C |
T |
2: 121,595,512 (GRCm39) |
|
probably null |
Het |
| Fut2 |
T |
C |
7: 45,300,370 (GRCm39) |
N134S |
possibly damaging |
Het |
| Gm10110 |
A |
T |
14: 90,134,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7275 |
A |
T |
16: 47,893,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm904 |
T |
A |
13: 50,799,285 (GRCm39) |
C81* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,344,946 (GRCm39) |
V1913E |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,909,111 (GRCm39) |
|
probably null |
Het |
| Ift172 |
T |
C |
5: 31,411,299 (GRCm39) |
E1643G |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,468,040 (GRCm39) |
M1K |
probably null |
Het |
| Keap1 |
G |
T |
9: 21,148,905 (GRCm39) |
A34D |
probably damaging |
Het |
| Krt25 |
T |
C |
11: 99,208,854 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,865,410 (GRCm39) |
V2916A |
probably benign |
Het |
| Ly9 |
G |
A |
1: 171,421,443 (GRCm39) |
Q603* |
probably null |
Het |
| Mmrn1 |
G |
T |
6: 60,937,797 (GRCm39) |
C265F |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,817,809 (GRCm39) |
E309K |
probably benign |
Het |
| Nrtn |
T |
C |
17: 57,058,504 (GRCm39) |
T166A |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,103 (GRCm39) |
|
probably null |
Het |
| Or8g50 |
T |
C |
9: 39,648,146 (GRCm39) |
F12L |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,947,098 (GRCm39) |
S266R |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,549 (GRCm39) |
I293T |
probably damaging |
Het |
| Pes1 |
A |
G |
11: 3,927,986 (GRCm39) |
Y546C |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,551,339 (GRCm39) |
W587R |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,174,789 (GRCm39) |
Y147H |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,865,322 (GRCm39) |
L737* |
probably null |
Het |
| Rcor3 |
A |
T |
1: 191,810,217 (GRCm39) |
F153L |
probably damaging |
Het |
| Rev3l |
G |
A |
10: 39,682,929 (GRCm39) |
C349Y |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,695,889 (GRCm39) |
T225M |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,250,098 (GRCm39) |
V200A |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,372,917 (GRCm39) |
T653A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,775,858 (GRCm39) |
Y590H |
probably damaging |
Het |
| Sema4d |
T |
A |
13: 51,877,654 (GRCm39) |
K59N |
probably benign |
Het |
| Serpinb7 |
C |
A |
1: 107,379,563 (GRCm39) |
H323Q |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
| Sgk3 |
T |
C |
1: 9,969,020 (GRCm39) |
S466P |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,741,958 (GRCm39) |
M1011V |
probably damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,538 (GRCm39) |
P106L |
probably benign |
Het |
| Taf7 |
T |
C |
18: 37,775,784 (GRCm39) |
Q261R |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,152,553 (GRCm39) |
K71R |
possibly damaging |
Het |
| Tff3 |
C |
T |
17: 31,348,508 (GRCm39) |
V15I |
probably benign |
Het |
| Tgfb3 |
C |
A |
12: 86,124,589 (GRCm39) |
V40L |
possibly damaging |
Het |
| Timm10 |
T |
A |
2: 84,657,992 (GRCm39) |
D2E |
possibly damaging |
Het |
| Ttc16 |
T |
A |
2: 32,663,753 (GRCm39) |
N74I |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,381,546 (GRCm39) |
T241I |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,260,603 (GRCm39) |
D992V |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,480 (GRCm39) |
T270S |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,728 (GRCm39) |
I504V |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,014 (GRCm39) |
H191N |
possibly damaging |
Het |
| Vnn1 |
C |
A |
10: 23,775,303 (GRCm39) |
F184L |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,393,032 (GRCm39) |
I466F |
probably damaging |
Het |
| Zfp352 |
A |
C |
4: 90,112,772 (GRCm39) |
D304A |
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 |
|
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'- CTAGGCTTAAGTGGCTACCATC -3'
(R):5'- GAACACATTTGTTTTGGGAGGC -3'
Sequencing Primer
(F):5'- TGGCTACCATCAATAATAAAACAAGG -3'
(R):5'- GAGGCATTGATTGTACTTATGAAAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation