Incidental Mutation 'R9197:Ccdc88b'
| ID |
698013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
068956-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9197 (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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Brd2 |
T |
C |
17: 34,333,370 (GRCm39) |
Y427C |
probably damaging |
Het |
| Btbd1 |
T |
A |
7: 81,443,363 (GRCm39) |
T474S |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,950 (GRCm39) |
T1524A |
|
Het |
| Capn9 |
T |
A |
8: 125,340,600 (GRCm39) |
V588D |
probably damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,732 (GRCm39) |
S356P |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,280,536 (GRCm39) |
I2820F |
unknown |
Het |
| Cyfip1 |
C |
T |
7: 55,554,222 (GRCm39) |
H754Y |
probably null |
Het |
| Dolk |
A |
G |
2: 30,174,693 (GRCm39) |
S451P |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,892,682 (GRCm39) |
A829T |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,284 (GRCm39) |
I308V |
possibly damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,489 (GRCm39) |
N285K |
probably benign |
Het |
| Hgf |
T |
A |
5: 16,766,059 (GRCm39) |
V65E |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,762,084 (GRCm39) |
L198Q |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,870,840 (GRCm39) |
R264H |
probably damaging |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Kdm4d |
T |
A |
9: 14,375,537 (GRCm39) |
Y107F |
probably damaging |
Het |
| Lad1 |
T |
A |
1: 135,759,630 (GRCm39) |
S509T |
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,573,446 (GRCm39) |
P143Q |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,716 (GRCm39) |
T340A |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,318 (GRCm39) |
H99R |
probably benign |
Het |
| Mmp11 |
T |
A |
10: 75,763,067 (GRCm39) |
D175V |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 88,026,943 (GRCm39) |
M813K |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,588,959 (GRCm39) |
N603D |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,489 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8c18 |
G |
A |
9: 38,204,080 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pcdha2 |
A |
C |
18: 37,072,879 (GRCm39) |
Y170S |
probably damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,354 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,804,553 (GRCm39) |
D799V |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,064 (GRCm39) |
Y430C |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,818 (GRCm39) |
F575L |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,306 (GRCm39) |
I406F |
probably benign |
Het |
| Rpgrip1 |
A |
T |
14: 52,382,857 (GRCm39) |
E674D |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,155,196 (GRCm39) |
V420A |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,690 (GRCm39) |
M411L |
probably benign |
Het |
| Spata31h1 |
C |
A |
10: 82,120,401 (GRCm39) |
C4203F |
possibly damaging |
Het |
| Tmem150a |
T |
G |
6: 72,333,722 (GRCm39) |
M28R |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,000 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,250,519 (GRCm39) |
I778T |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,596 (GRCm39) |
H315Q |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,444,244 (GRCm39) |
N565K |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,312,179 (GRCm39) |
Q172* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,674,067 (GRCm39) |
S344T |
possibly damaging |
Het |
| Zfp970 |
T |
C |
2: 177,167,878 (GRCm39) |
I484T |
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 |
|
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 |
|
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'- ATTTCAGCCTCCAAGCCCTG -3'
(R):5'- CAGAACGATTTTGTTGGGATCG -3'
Sequencing Primer
(F):5'- TCCAAGCCCTGCACCTCG -3'
(R):5'- TGGAAGATGCTTCTTTGACCTTTGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation