Incidental Mutation 'R9441:Ccdc88b'
| ID |
713669 |
| 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 # |
R9441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.4%
- 20x: 98.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
C |
A |
9: 55,917,776 (GRCm39) |
G20V |
unknown |
Het |
| Adam22 |
T |
C |
5: 8,161,974 (GRCm39) |
T733A |
possibly damaging |
Het |
| Adam28 |
T |
A |
14: 68,874,943 (GRCm39) |
N245Y |
probably damaging |
Het |
| Aldh9a1 |
C |
G |
1: 167,177,919 (GRCm39) |
R39G |
probably benign |
Het |
| Armc3 |
A |
C |
2: 19,253,426 (GRCm39) |
E189A |
possibly damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cars1 |
G |
A |
7: 143,123,185 (GRCm39) |
T560I |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,873 (GRCm39) |
K1649E |
probably benign |
Het |
| Cd84 |
G |
A |
1: 171,713,994 (GRCm39) |
|
probably null |
Het |
| Ces2g |
G |
T |
8: 105,690,623 (GRCm39) |
A135S |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,030,149 (GRCm39) |
D926G |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,955 (GRCm39) |
T271A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,705,249 (GRCm39) |
Y2824* |
probably null |
Het |
| Cth |
T |
A |
3: 157,616,575 (GRCm39) |
R196S |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,514,060 (GRCm39) |
M222T |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,095,042 (GRCm39) |
M773K |
probably benign |
Het |
| Dmbx1 |
G |
A |
4: 115,780,884 (GRCm39) |
P39L |
probably damaging |
Het |
| Dst |
G |
C |
1: 34,238,432 (GRCm39) |
W1697C |
probably damaging |
Het |
| Eno1 |
C |
T |
4: 150,321,208 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
G |
T |
14: 27,802,114 (GRCm39) |
V761L |
possibly damaging |
Het |
| Frem1 |
A |
T |
4: 82,924,083 (GRCm39) |
I292N |
probably damaging |
Het |
| Ftdc2 |
G |
A |
16: 58,458,884 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
G |
T |
5: 135,460,571 (GRCm39) |
L530M |
possibly damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,268 (GRCm39) |
Q283R |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,501,392 (GRCm39) |
D894N |
probably damaging |
Het |
| Lats1 |
G |
T |
10: 7,578,681 (GRCm39) |
G602W |
probably damaging |
Het |
| Lgals12 |
A |
G |
19: 7,581,356 (GRCm39) |
L117P |
probably damaging |
Het |
| Mfsd4b1 |
A |
T |
10: 39,878,680 (GRCm39) |
L406I |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,969,731 (GRCm39) |
M333K |
probably benign |
Het |
| Mup2 |
A |
G |
4: 60,139,740 (GRCm39) |
V16A |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,330 (GRCm39) |
E220G |
probably null |
Het |
| Myh6 |
A |
G |
14: 55,197,771 (GRCm39) |
Y456H |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,013,934 (GRCm39) |
S439P |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,733,194 (GRCm39) |
E613G |
probably benign |
Het |
| Or10b1 |
G |
A |
10: 78,355,609 (GRCm39) |
V56M |
probably benign |
Het |
| Parp8 |
C |
T |
13: 117,029,562 (GRCm39) |
V554M |
probably damaging |
Het |
| Phpt1 |
A |
T |
2: 25,464,750 (GRCm39) |
D34E |
probably benign |
Het |
| Ppip5k2 |
G |
A |
1: 97,672,921 (GRCm39) |
S463L |
probably benign |
Het |
| Prss28 |
A |
G |
17: 25,530,215 (GRCm39) |
Q173R |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,988,860 (GRCm39) |
W441R |
possibly damaging |
Het |
| Serbp1 |
T |
C |
6: 67,244,025 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,347,848 (GRCm39) |
K1319E |
unknown |
Het |
| Slc35a4 |
G |
A |
18: 36,816,111 (GRCm39) |
G314S |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,498 (GRCm39) |
I180T |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,652,462 (GRCm39) |
P205L |
probably benign |
Het |
| Tat |
G |
T |
8: 110,720,547 (GRCm39) |
G168W |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Trh |
C |
T |
6: 92,219,939 (GRCm39) |
G126R |
probably benign |
Het |
| Ugcg |
G |
A |
4: 59,207,843 (GRCm39) |
G61R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,260,306 (GRCm39) |
T170A |
probably benign |
Het |
| Unc5b |
G |
A |
10: 60,608,028 (GRCm39) |
P702S |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,562,073 (GRCm39) |
D89G |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,674 (GRCm39) |
I845K |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,498 (GRCm39) |
N267S |
possibly damaging |
Het |
| Xkr9 |
A |
G |
1: 13,771,587 (GRCm39) |
R368G |
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 |
|
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 |
|
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 |
|
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'- TCGAATTTCAGCCTCCAAGC -3'
(R):5'- CAGAACGATTTTGTTGGGATCG -3'
Sequencing Primer
(F):5'- TCCAAGCCCTGCACCTCG -3'
(R):5'- TGGAAGATGCTTCTTTGACCTTTGAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation