Incidental Mutation 'R8753:Ccdc88b'
| ID |
664005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
068619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6833213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 278
(E278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113440
AA Change: E278G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: E278G
| 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: 98.9%
|
| Validation Efficiency |
95% (59/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,332,706 (GRCm39) |
Y1496H |
probably damaging |
Het |
| Acan |
G |
A |
7: 78,748,516 (GRCm39) |
E1096K |
possibly damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,118 (GRCm39) |
K1547E |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Arf4 |
T |
A |
14: 26,374,114 (GRCm39) |
|
probably benign |
Het |
| Boc |
A |
T |
16: 44,320,775 (GRCm39) |
M295K |
|
Het |
| C2cd3 |
T |
A |
7: 100,049,024 (GRCm39) |
|
probably null |
Het |
| Calcrl |
C |
G |
2: 84,178,659 (GRCm39) |
G223A |
probably benign |
Het |
| Calcrl |
C |
A |
2: 84,178,661 (GRCm39) |
M222I |
probably benign |
Het |
| Ccz1 |
A |
G |
5: 143,925,050 (GRCm39) |
C469R |
probably benign |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,223,958 (GRCm39) |
G251S |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cpox |
T |
A |
16: 58,498,391 (GRCm39) |
M408K |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,226,247 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
T |
2: 13,313,377 (GRCm39) |
C3064* |
probably null |
Het |
| Cxcl3 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTG |
5: 90,934,071 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,158 (GRCm39) |
S432C |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,508,668 (GRCm39) |
F416I |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,074,398 (GRCm39) |
T612A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,867 (GRCm39) |
T1089A |
probably damaging |
Het |
| Gm12117 |
A |
T |
11: 33,225,953 (GRCm39) |
L128M |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Ibtk |
T |
C |
9: 85,610,819 (GRCm39) |
T285A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,301,223 (GRCm39) |
N818K |
unknown |
Het |
| Itga10 |
T |
G |
3: 96,558,471 (GRCm39) |
L305R |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,125,223 (GRCm39) |
Y461H |
possibly damaging |
Het |
| Macroh2a2 |
T |
C |
10: 61,585,113 (GRCm39) |
D177G |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,235,601 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,013 (GRCm39) |
E246G |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,575,085 (GRCm39) |
I737V |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,102,320 (GRCm39) |
S373A |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,534,329 (GRCm39) |
Y2936C |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,307,542 (GRCm39) |
I1685F |
probably damaging |
Het |
| Nt5c3 |
C |
G |
6: 56,860,677 (GRCm39) |
G293R |
probably damaging |
Het |
| Or4f14c |
A |
T |
2: 111,940,802 (GRCm39) |
V265E |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,567 (GRCm39) |
I306F |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,613,999 (GRCm39) |
V484E |
probably benign |
Het |
| Pcsk5 |
C |
T |
19: 17,446,408 (GRCm39) |
R1195Q |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,704 (GRCm39) |
V861A |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,793,176 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,513,702 (GRCm39) |
E846* |
probably null |
Het |
| Polr3e |
T |
C |
7: 120,539,540 (GRCm39) |
V455A |
possibly damaging |
Het |
| Prr5l |
C |
T |
2: 101,571,723 (GRCm39) |
G118D |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,242,400 (GRCm39) |
N685K |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,757,600 (GRCm39) |
V56A |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,179,662 (GRCm39) |
D1341G |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,275,330 (GRCm39) |
T123A |
probably benign |
Het |
| Slc23a1 |
T |
G |
18: 35,752,631 (GRCm39) |
K549Q |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,841,443 (GRCm39) |
F430S |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,319,070 (GRCm39) |
V707M |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,916,015 (GRCm39) |
S887G |
probably damaging |
Het |
| T2 |
T |
C |
17: 8,615,477 (GRCm39) |
|
probably benign |
Het |
| Tbc1d16 |
A |
G |
11: 119,101,492 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcf7l2 |
T |
C |
19: 55,920,195 (GRCm39) |
L576P |
possibly damaging |
Het |
| Tnr |
A |
G |
1: 159,677,936 (GRCm39) |
D107G |
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,135,082 (GRCm39) |
K426N |
probably damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,895 (GRCm39) |
L254F |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,191 (GRCm39) |
I127F |
probably damaging |
Het |
| Zc3h14 |
A |
T |
12: 98,724,831 (GRCm39) |
E164D |
probably benign |
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 |
|
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'- AATTTCAGCCTCCAAGCCCTG -3'
(R):5'- CAGAACGATTTTGTTGGGATCG -3'
Sequencing Primer
(F):5'- TCCAAGCCCTGCACCTCG -3'
(R):5'- TGGAAGATGCTTCTTTGACCTTTGAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation