Incidental Mutation 'R9593:Mis18bp1'
| ID |
723115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mis18bp1
|
| Ensembl Gene |
ENSMUSG00000047534 |
| Gene Name |
MIS18 binding protein 1 |
| Synonyms |
C79407 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65179508-65219363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65187628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 825
(I825T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052201]
|
| AlphaFold |
Q80WQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052201
AA Change: I825T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534
AA Change: I825T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
A |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,271,339 (GRCm39) |
Q2058* |
probably null |
Het |
| Adam39 |
T |
A |
8: 41,279,744 (GRCm39) |
C712S |
possibly damaging |
Het |
| Aipl1 |
T |
C |
11: 71,921,161 (GRCm39) |
E219G |
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,475,898 (GRCm39) |
R301G |
unknown |
Het |
| Arhgef17 |
A |
G |
7: 100,532,009 (GRCm39) |
F272L |
probably damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,604 (GRCm39) |
Y247N |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,090 (GRCm39) |
V1345A |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,285,433 (GRCm39) |
E503G |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,803,453 (GRCm39) |
S829P |
probably damaging |
Het |
| Coro1b |
T |
A |
19: 4,199,497 (GRCm39) |
V52E |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,704,683 (GRCm39) |
M1344K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,236,774 (GRCm39) |
I367V |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,607 (GRCm39) |
T1807A |
probably benign |
Het |
| Dusp10 |
T |
A |
1: 183,806,643 (GRCm39) |
F459I |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,872,089 (GRCm39) |
L302Q |
probably benign |
Het |
| Entrep3 |
T |
A |
3: 89,091,199 (GRCm39) |
S57T |
probably benign |
Het |
| Fdx2 |
A |
T |
9: 20,979,097 (GRCm39) |
Y165N |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,165,353 (GRCm39) |
V206I |
possibly damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,808 (GRCm39) |
E108G |
probably damaging |
Het |
| Gm29394 |
A |
G |
15: 57,932,722 (GRCm39) |
L5P |
probably benign |
Het |
| Gnb1l |
C |
T |
16: 18,362,914 (GRCm39) |
P101S |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,424,844 (GRCm39) |
S749* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,244,742 (GRCm39) |
Y733C |
probably damaging |
Het |
| Inafm1 |
G |
A |
7: 16,007,059 (GRCm39) |
L53F |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,011,657 (GRCm39) |
R814H |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,778,163 (GRCm39) |
C21R |
probably benign |
Het |
| Maz |
A |
G |
7: 126,624,924 (GRCm39) |
F199L |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,907,506 (GRCm39) |
T211S |
possibly damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,656,664 (GRCm39) |
Y389H |
probably damaging |
Het |
| Myo3b |
G |
A |
2: 70,075,648 (GRCm39) |
G579R |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,020,197 (GRCm39) |
V228A |
probably benign |
Het |
| Npepps |
T |
A |
11: 97,149,179 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
G |
3: 109,842,224 (GRCm39) |
L183P |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,868 (GRCm39) |
T247A |
probably benign |
Het |
| Pcdha4 |
A |
C |
18: 37,086,740 (GRCm39) |
I308L |
probably benign |
Het |
| Pear1 |
G |
T |
3: 87,658,480 (GRCm39) |
Q964K |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,059,710 (GRCm39) |
D1182E |
possibly damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,674,998 (GRCm39) |
D658E |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,524,254 (GRCm39) |
Y493C |
possibly damaging |
Het |
| Rnd1 |
A |
G |
15: 98,570,526 (GRCm39) |
W107R |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,315,839 (GRCm39) |
T1623M |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,410,564 (GRCm39) |
I288T |
probably benign |
Het |
| Slfn14 |
T |
A |
11: 83,174,733 (GRCm39) |
H86L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sox13 |
G |
A |
1: 133,316,214 (GRCm39) |
P243S |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,305,136 (GRCm39) |
E109* |
probably null |
Het |
| Traf4 |
T |
C |
11: 78,056,253 (GRCm39) |
D5G |
possibly damaging |
Het |
| Trank1 |
G |
T |
9: 111,191,365 (GRCm39) |
C458F |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,549,049 (GRCm39) |
F81S |
probably benign |
Het |
| Tulp1 |
C |
T |
17: 28,572,802 (GRCm39) |
W451* |
probably null |
Het |
| Tyms |
T |
C |
5: 30,269,110 (GRCm39) |
I171V |
|
Het |
| Vmn2r115 |
T |
A |
17: 23,578,184 (GRCm39) |
N552K |
probably damaging |
Het |
| Zfp710 |
T |
A |
7: 79,730,909 (GRCm39) |
S29T |
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 |
|
|
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 |
|
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'- TACAGATCATGGACTTTCCTTTTAGTG -3'
(R):5'- TAAGTCATTCTTAGGACAAAACAGG -3'
Sequencing Primer
(F):5'- CAAGGGTGTTGCAGTGAA -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation