Incidental Mutation 'R8506:Ccdc88b'
| ID |
655610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
067842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6824690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 1357
(P1357T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113440
AA Change: P1357T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: P1357T
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
T |
9: 101,820,171 (GRCm39) |
E197V |
possibly damaging |
Het |
| Alkbh8 |
C |
T |
9: 3,335,616 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,586,851 (GRCm39) |
A498T |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,165,155 (GRCm39) |
E427D |
possibly damaging |
Het |
| App |
A |
C |
16: 84,879,704 (GRCm39) |
V143G |
unknown |
Het |
| Bod1l |
C |
A |
5: 41,976,398 (GRCm39) |
E1639* |
probably null |
Het |
| C2cd2 |
T |
C |
16: 97,676,621 (GRCm39) |
D122G |
|
Het |
| Ccnyl1 |
A |
G |
1: 64,753,821 (GRCm39) |
T211A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,820 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,586,195 (GRCm39) |
A106S |
unknown |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chpf2 |
T |
C |
5: 24,793,295 (GRCm39) |
L87P |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,481,944 (GRCm39) |
I60N |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,337,358 (GRCm39) |
E718V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,208,481 (GRCm39) |
I1845L |
probably benign |
Het |
| Disp3 |
C |
T |
4: 148,326,027 (GRCm39) |
V1244I |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,940,108 (GRCm39) |
S1685P |
probably benign |
Het |
| Etnppl |
G |
A |
3: 130,423,122 (GRCm39) |
V274I |
possibly damaging |
Het |
| Evc2 |
T |
C |
5: 37,540,486 (GRCm39) |
S561P |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,940,623 (GRCm39) |
E759G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,157 (GRCm39) |
F372S |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,173,806 (GRCm39) |
T868A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,380,863 (GRCm39) |
D3580G |
possibly damaging |
Het |
| Hmbs |
A |
G |
9: 44,252,921 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,457,947 (GRCm39) |
E161D |
probably damaging |
Het |
| Ighv8-4 |
A |
G |
12: 114,987,728 (GRCm39) |
V90A |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,319,914 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
A |
10: 112,291,537 (GRCm39) |
F242I |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,628 (GRCm39) |
I229T |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,379,360 (GRCm39) |
L1791F |
probably damaging |
Het |
| Med6 |
A |
T |
12: 81,641,734 (GRCm39) |
M1K |
probably null |
Het |
| Mei4 |
A |
G |
9: 81,861,291 (GRCm39) |
D294G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,562,582 (GRCm39) |
I585V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,650,759 (GRCm39) |
V432A |
probably damaging |
Het |
| Nlrp4c |
G |
T |
7: 6,103,775 (GRCm39) |
G903V |
possibly damaging |
Het |
| Nrf1 |
G |
A |
6: 30,126,256 (GRCm39) |
A416T |
probably benign |
Het |
| Nsl1 |
G |
C |
1: 190,808,832 (GRCm39) |
C173S |
unknown |
Het |
| Obsl1 |
G |
A |
1: 75,482,300 (GRCm39) |
A190V |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,073,336 (GRCm39) |
V262I |
probably benign |
Het |
| Or51f1d |
T |
A |
7: 102,700,709 (GRCm39) |
M68K |
probably damaging |
Het |
| Or5b3 |
A |
G |
19: 13,388,604 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,181 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,922 (GRCm39) |
L131P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,745 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,901,643 (GRCm39) |
T621I |
probably benign |
Het |
| Pabpc4l |
G |
A |
3: 46,400,832 (GRCm39) |
R271* |
probably null |
Het |
| Paics |
A |
T |
5: 77,112,437 (GRCm39) |
D307V |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,737 (GRCm39) |
D522G |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,590,759 (GRCm39) |
C1020S |
unknown |
Het |
| Pfkfb4 |
T |
G |
9: 108,834,667 (GRCm39) |
D113E |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,830 (GRCm39) |
Y202C |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,090 (GRCm39) |
M111K |
probably damaging |
Het |
| Pole2 |
A |
C |
12: 69,255,734 (GRCm39) |
S344A |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,789 (GRCm39) |
T687A |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,114,181 (GRCm38) |
S313P |
probably damaging |
Het |
| Rd3 |
T |
G |
1: 191,715,228 (GRCm39) |
M1R |
probably null |
Het |
| Rtn4ip1 |
G |
A |
10: 43,804,352 (GRCm39) |
V235I |
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,787,719 (GRCm39) |
I635V |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,645,108 (GRCm39) |
E784G |
possibly damaging |
Het |
| Syce2 |
A |
T |
8: 85,613,795 (GRCm39) |
D168V |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,529 (GRCm39) |
S6P |
probably benign |
Het |
| Tbc1d16 |
A |
C |
11: 119,039,784 (GRCm39) |
H675Q |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,327 (GRCm39) |
I371N |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,218,150 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,270 (GRCm39) |
S17P |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,627 (GRCm39) |
N98Y |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,446,891 (GRCm39) |
D515E |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,971,684 (GRCm39) |
I42M |
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 |
|
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'- CATCAGCATCAAGGCAGGTG -3'
(R):5'- GGGATCCTGCTAACCTTTGC -3'
Sequencing Primer
(F):5'- CATCAAGGCAGGTGGAGGC -3'
(R):5'- CTTAGTAAGGGTTTGCCTGACC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation