Incidental Mutation 'R2167:Ccdc88b'
| ID |
235581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
040170-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6831452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 497
(Q497K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113440
AA Change: Q497K
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: Q497K
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,532 (GRCm39) |
T710M |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Acsl1 |
A |
G |
8: 46,986,627 (GRCm39) |
D638G |
possibly damaging |
Het |
| Acsl6 |
C |
A |
11: 54,217,983 (GRCm39) |
T207K |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,988,858 (GRCm39) |
K3381* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,031 (GRCm39) |
V74A |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,012 (GRCm39) |
W270R |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,742,573 (GRCm39) |
T118A |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,197,249 (GRCm39) |
M183L |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,367,707 (GRCm39) |
I1026V |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,509 (GRCm39) |
T768A |
probably damaging |
Het |
| Cog5 |
T |
C |
12: 31,887,288 (GRCm39) |
F470L |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,381,306 (GRCm39) |
D374G |
probably damaging |
Het |
| Disp2 |
A |
C |
2: 118,622,166 (GRCm39) |
E966A |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,573,344 (GRCm39) |
|
probably benign |
Het |
| Eif2b3 |
T |
A |
4: 116,885,737 (GRCm39) |
I93N |
probably damaging |
Het |
| Elfn2 |
C |
A |
15: 78,556,646 (GRCm39) |
V634L |
probably benign |
Het |
| Fasl |
T |
G |
1: 161,614,707 (GRCm39) |
S119R |
probably benign |
Het |
| Foxp2 |
C |
G |
6: 15,437,901 (GRCm39) |
P701A |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,563,790 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
T |
C |
14: 8,222,683 (GRCm38) |
V175A |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,352,991 (GRCm39) |
N178S |
probably benign |
Het |
| Lhx6 |
C |
A |
2: 35,993,371 (GRCm39) |
R80L |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,499,216 (GRCm39) |
L406P |
probably damaging |
Het |
| Mapkap1 |
T |
C |
2: 34,487,494 (GRCm39) |
F231L |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,504,535 (GRCm39) |
Y256H |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,296,911 (GRCm39) |
T1203A |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,467,376 (GRCm39) |
Y604C |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,479,781 (GRCm39) |
Q66K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,040,263 (GRCm39) |
H933Q |
probably damaging |
Het |
| Or10h5 |
T |
A |
17: 33,434,542 (GRCm39) |
I262F |
probably damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,252 (GRCm39) |
V216A |
probably benign |
Het |
| Or2d3c |
A |
G |
7: 106,525,797 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,797 (GRCm39) |
E308K |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,449,091 (GRCm39) |
T680A |
probably damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,113,852 (GRCm39) |
I104F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnase6 |
A |
C |
14: 51,367,974 (GRCm39) |
D122A |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
A |
19: 44,531,792 (GRCm39) |
T39I |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,015,601 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,398,817 (GRCm39) |
Y261* |
probably null |
Het |
| Supt6 |
G |
A |
11: 78,098,993 (GRCm39) |
P1626L |
possibly damaging |
Het |
| Tbx15 |
A |
G |
3: 99,233,771 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,329,792 (GRCm39) |
V240A |
probably benign |
Het |
| Trhr |
C |
T |
15: 44,092,638 (GRCm39) |
L292F |
probably damaging |
Het |
| Trps1 |
G |
A |
15: 50,695,126 (GRCm39) |
L340F |
possibly damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,284,429 (GRCm38) |
|
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,032,151 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
G |
A |
10: 127,578,844 (GRCm39) |
E473K |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,387 (GRCm39) |
S269T |
possibly damaging |
Het |
| Zfp580 |
C |
A |
7: 5,056,063 (GRCm39) |
P141Q |
possibly 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 |
|
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 |
|
R9334:Ccdc88b
|
UTSW |
19 |
6,833,541 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- CCTGAGAACACTTGGGTGAC -3'
(R):5'- CACCCTCACTGCAAGATGAG -3'
Sequencing Primer
(F):5'- ACCTTGTGATGTCAGAGTATGATGC -3'
(R):5'- CCCTCACTGCAAGATGAGGTGAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation