Incidental Mutation 'R9334:Ccdc88b'
| ID |
707032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6833541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 208
(M208T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113440
AA Change: M208T
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: M208T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
Pfam:HOOK
|
91 |
503 |
1.2e-16 |
PFAM |
|
coiled coil region
|
731 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1429 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null ENU-induced allele exhibit decreased susceptibility to P. berghei infection with reduced T cell proliferation, decreased cytokine secretion and increased myeloid cell number. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
A |
T |
1: 36,739,251 (GRCm39) |
I346N |
probably damaging |
Het |
| Adam6b |
A |
C |
12: 113,454,768 (GRCm39) |
E528D |
probably damaging |
Het |
| Ang |
A |
G |
14: 51,339,017 (GRCm39) |
M53V |
possibly damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,509,262 (GRCm39) |
A601V |
probably benign |
Het |
| Atp6v0d2 |
A |
G |
4: 19,890,695 (GRCm39) |
L155P |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,296,594 (GRCm39) |
V1204A |
probably damaging |
Het |
| Car4 |
A |
G |
11: 84,855,415 (GRCm39) |
I183V |
probably benign |
Het |
| Ccdc149 |
G |
T |
5: 52,578,171 (GRCm39) |
A87E |
possibly damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,723,046 (GRCm39) |
L162S |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,213,718 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
C |
A |
16: 44,239,654 (GRCm39) |
T567K |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,423,673 (GRCm39) |
V152M |
probably benign |
Het |
| Cyp2u1 |
C |
T |
3: 131,092,065 (GRCm39) |
V152M |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,051,659 (GRCm39) |
F1733I |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,403,027 (GRCm39) |
Y1409C |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,677,815 (GRCm39) |
M367T |
probably benign |
Het |
| Eif4g2 |
A |
G |
7: 110,674,031 (GRCm39) |
S658P |
possibly damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,397,117 (GRCm39) |
L666P |
probably damaging |
Het |
| Fbxl4 |
G |
A |
4: 22,376,778 (GRCm39) |
M71I |
probably damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,765,910 (GRCm39) |
S727P |
possibly damaging |
Het |
| Fem1b |
A |
T |
9: 62,703,604 (GRCm39) |
L552* |
probably null |
Het |
| Filip1 |
A |
T |
9: 79,725,739 (GRCm39) |
V960D |
probably benign |
Het |
| Glipr1l3 |
A |
T |
10: 111,979,948 (GRCm39) |
M198K |
probably benign |
Het |
| Gm19410 |
T |
A |
8: 36,270,722 (GRCm39) |
C1216* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,889,864 (GRCm39) |
V81E |
probably damaging |
Het |
| Gpr150 |
G |
T |
13: 76,204,103 (GRCm39) |
Q281K |
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,820,469 (GRCm39) |
V221A |
probably damaging |
Het |
| Gsc |
T |
A |
12: 104,439,353 (GRCm39) |
I8F |
probably damaging |
Het |
| Homer2 |
A |
T |
7: 81,261,078 (GRCm39) |
C284* |
probably null |
Het |
| Hrg |
T |
A |
16: 22,780,061 (GRCm39) |
H446Q |
unknown |
Het |
| Jag1 |
C |
T |
2: 136,943,593 (GRCm39) |
R201H |
probably damaging |
Het |
| Kctd15 |
C |
T |
7: 34,341,483 (GRCm39) |
R148H |
possibly damaging |
Het |
| Klhdc7a |
G |
A |
4: 139,693,493 (GRCm39) |
R485C |
probably benign |
Het |
| Ldhd |
T |
A |
8: 112,353,980 (GRCm39) |
I407F |
probably benign |
Het |
| Lgals12 |
G |
A |
19: 7,578,086 (GRCm39) |
R192C |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,347 (GRCm39) |
I81F |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,568,148 (GRCm39) |
D1524E |
unknown |
Het |
| Marveld3 |
A |
G |
8: 110,675,036 (GRCm39) |
L260S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,942,203 (GRCm39) |
R555H |
probably benign |
Het |
| Mrpl37 |
G |
A |
4: 106,921,605 (GRCm39) |
T208I |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,838,490 (GRCm39) |
T498S |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,047,360 (GRCm39) |
C289R |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,716,369 (GRCm39) |
F1459Y |
probably damaging |
Het |
| Neurl4 |
C |
A |
11: 69,796,792 (GRCm39) |
R518S |
probably damaging |
Het |
| Nmnat2 |
T |
G |
1: 152,949,585 (GRCm39) |
V43G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,272 (GRCm39) |
Y98C |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,840 (GRCm39) |
F120L |
probably benign |
Het |
| Or6c6c |
A |
G |
10: 129,541,683 (GRCm39) |
N312S |
probably benign |
Het |
| Otog |
A |
G |
7: 45,909,353 (GRCm39) |
T608A |
possibly damaging |
Het |
| Pck2 |
G |
A |
14: 55,785,283 (GRCm39) |
R482Q |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,670,532 (GRCm39) |
M1013I |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,630 (GRCm39) |
M200T |
probably benign |
Het |
| Pigt |
CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
2: 164,349,420 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
A |
T |
4: 88,548,186 (GRCm39) |
I73K |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,730,114 (GRCm39) |
H26R |
probably benign |
Het |
| Ralgps2 |
T |
A |
1: 156,715,599 (GRCm39) |
E72V |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,179 (GRCm39) |
F873L |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,512,264 (GRCm39) |
C396S |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,410,550 (GRCm39) |
N283K |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,044,032 (GRCm39) |
Y1800* |
probably null |
Het |
| Sgce |
G |
T |
6: 4,707,205 (GRCm39) |
S213R |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,281,076 (GRCm39) |
T704N |
possibly damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,075,865 (GRCm39) |
|
probably benign |
Het |
| Sult5a1 |
A |
T |
8: 123,875,146 (GRCm39) |
D129E |
probably damaging |
Het |
| Tacr1 |
A |
T |
6: 82,380,913 (GRCm39) |
H108L |
probably damaging |
Het |
| Tnfsf10 |
T |
A |
3: 27,389,496 (GRCm39) |
Y186N |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,688,919 (GRCm39) |
S2428P |
possibly damaging |
Het |
| Vwf |
G |
A |
6: 125,654,909 (GRCm39) |
R2535H |
|
Het |
| Zfp532 |
A |
G |
18: 65,756,128 (GRCm39) |
I20M |
probably damaging |
Het |
|
| Other mutations in Ccdc88b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Ccdc88b
|
APN |
19 |
6,822,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Ccdc88b
|
APN |
19 |
6,824,078 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02201:Ccdc88b
|
APN |
19 |
6,823,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02260:Ccdc88b
|
APN |
19 |
6,832,717 (GRCm39) |
splice site |
probably benign |
|
|
IGL02276:Ccdc88b
|
APN |
19 |
6,833,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02412:Ccdc88b
|
APN |
19 |
6,824,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Ccdc88b
|
APN |
19 |
6,834,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Ccdc88b
|
APN |
19 |
6,824,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Ccdc88b
|
UTSW |
19 |
6,831,151 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0544:Ccdc88b
|
UTSW |
19 |
6,834,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Ccdc88b
|
UTSW |
19 |
6,831,582 (GRCm39) |
missense |
probably benign |
|
|
R0920:Ccdc88b
|
UTSW |
19 |
6,824,017 (GRCm39) |
missense |
probably benign |
|
|
R0975:Ccdc88b
|
UTSW |
19 |
6,823,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Ccdc88b
|
UTSW |
19 |
6,830,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Ccdc88b
|
UTSW |
19 |
6,827,739 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1471:Ccdc88b
|
UTSW |
19 |
6,831,391 (GRCm39) |
missense |
probably benign |
|
|
R1605:Ccdc88b
|
UTSW |
19 |
6,827,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1752:Ccdc88b
|
UTSW |
19 |
6,830,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1832:Ccdc88b
|
UTSW |
19 |
6,830,900 (GRCm39) |
nonsense |
probably null |
|
|
R1839:Ccdc88b
|
UTSW |
19 |
6,831,477 (GRCm39) |
splice site |
probably benign |
|
|
R1917:Ccdc88b
|
UTSW |
19 |
6,826,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Ccdc88b
|
UTSW |
19 |
6,831,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4012:Ccdc88b
|
UTSW |
19 |
6,826,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4350:Ccdc88b
|
UTSW |
19 |
6,827,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4427:Ccdc88b
|
UTSW |
19 |
6,827,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4676:Ccdc88b
|
UTSW |
19 |
6,830,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4677:Ccdc88b
|
UTSW |
19 |
6,825,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4720:Ccdc88b
|
UTSW |
19 |
6,835,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Ccdc88b
|
UTSW |
19 |
6,834,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Ccdc88b
|
UTSW |
19 |
6,833,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Ccdc88b
|
UTSW |
19 |
6,825,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5403:Ccdc88b
|
UTSW |
19 |
6,835,108 (GRCm39) |
missense |
unknown |
|
|
R5448:Ccdc88b
|
UTSW |
19 |
6,831,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Ccdc88b
|
UTSW |
19 |
6,831,203 (GRCm39) |
missense |
probably benign |
|
|
R5783:Ccdc88b
|
UTSW |
19 |
6,831,284 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5988:Ccdc88b
|
UTSW |
19 |
6,833,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Ccdc88b
|
UTSW |
19 |
6,826,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Ccdc88b
|
UTSW |
19 |
6,832,246 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6773:Ccdc88b
|
UTSW |
19 |
6,826,409 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7073:Ccdc88b
|
UTSW |
19 |
6,831,330 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7707:Ccdc88b
|
UTSW |
19 |
6,834,837 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7810:Ccdc88b
|
UTSW |
19 |
6,826,454 (GRCm39) |
missense |
probably benign |
|
|
R8298:Ccdc88b
|
UTSW |
19 |
6,827,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8349:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Ccdc88b
|
UTSW |
19 |
6,831,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Ccdc88b
|
UTSW |
19 |
6,824,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8714:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Ccdc88b
|
UTSW |
19 |
6,825,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Ccdc88b
|
UTSW |
19 |
6,825,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Ccdc88b
|
UTSW |
19 |
6,824,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Ccdc88b
|
UTSW |
19 |
6,831,203 (GRCm39) |
missense |
probably benign |
|
|
R9049:Ccdc88b
|
UTSW |
19 |
6,826,442 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9100:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Ccdc88b
|
UTSW |
19 |
6,831,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9202:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Ccdc88b
|
UTSW |
19 |
6,826,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Ccdc88b
|
UTSW |
19 |
6,833,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9441:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Ccdc88b
|
UTSW |
19 |
6,831,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Ccdc88b
|
UTSW |
19 |
6,833,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Ccdc88b
|
UTSW |
19 |
6,831,199 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc88b
|
UTSW |
19 |
6,827,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGGTCAAAGAAGCATCTTCC -3'
(R):5'- AAGAGCTTTGCCACCTCTTC -3'
Sequencing Primer
(F):5'- TTCCAAAACCTCTGCACATCGG -3'
(R):5'- GTCTACCAGGAATTATGTCTAACTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation