Incidental Mutation 'R6459:Ccdc88b'
ID |
517541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc88b
|
Ensembl Gene |
ENSMUSG00000047810 |
Gene Name |
coiled-coil domain containing 88B |
Synonyms |
2610041P08Rik |
MMRRC Submission |
044594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6459 (G1)
|
Quality Score |
224.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6832246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 363
(V363D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
AlphaFold |
Q4QRL3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113440
AA Change: V363D
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109067 Gene: ENSMUSG00000047810 AA Change: V363D
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (52/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
C |
A |
11: 76,315,815 (GRCm39) |
R583L |
probably damaging |
Het |
Acss1 |
A |
G |
2: 150,509,840 (GRCm39) |
I93T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,827,577 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
Atl3 |
A |
T |
19: 7,498,163 (GRCm39) |
E186D |
probably benign |
Het |
Atp4a |
A |
G |
7: 30,411,887 (GRCm39) |
K41E |
probably benign |
Het |
Atp9a |
G |
A |
2: 168,509,933 (GRCm39) |
P500L |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,258,235 (GRCm39) |
V532A |
probably damaging |
Het |
Cldn13 |
T |
C |
5: 134,943,769 (GRCm39) |
T139A |
possibly damaging |
Het |
Cnksr3 |
T |
C |
10: 7,076,820 (GRCm39) |
Y124C |
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,352,462 (GRCm39) |
K161E |
possibly damaging |
Het |
Epop |
T |
C |
11: 97,519,333 (GRCm39) |
S259G |
possibly damaging |
Het |
Fhl2 |
G |
A |
1: 43,162,813 (GRCm39) |
T234I |
possibly damaging |
Het |
Fnip2 |
T |
C |
3: 79,388,941 (GRCm39) |
T567A |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,464,601 (GRCm39) |
C39R |
probably damaging |
Het |
Grhl3 |
T |
C |
4: 135,284,744 (GRCm39) |
N116S |
possibly damaging |
Het |
Igkv14-111 |
A |
T |
6: 68,233,725 (GRCm39) |
R75S |
probably benign |
Het |
Il16 |
A |
T |
7: 83,371,529 (GRCm39) |
D92E |
probably damaging |
Het |
Il16 |
C |
A |
7: 83,371,536 (GRCm39) |
G90V |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 107,002,277 (GRCm39) |
|
probably null |
Het |
Kng2 |
A |
G |
16: 22,830,865 (GRCm39) |
I148T |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,945,977 (GRCm39) |
S231P |
possibly damaging |
Het |
Maneal |
C |
T |
4: 124,750,635 (GRCm39) |
V374I |
possibly damaging |
Het |
Mgat4c |
T |
A |
10: 102,220,988 (GRCm39) |
L90Q |
probably damaging |
Het |
Mrps28 |
A |
G |
3: 8,965,040 (GRCm39) |
|
probably null |
Het |
Ncapd3 |
A |
G |
9: 26,963,051 (GRCm39) |
D452G |
probably benign |
Het |
Nefh |
T |
C |
11: 4,889,551 (GRCm39) |
T1023A |
unknown |
Het |
Nipa1 |
A |
G |
7: 55,629,354 (GRCm39) |
V253A |
probably benign |
Het |
Or5ac17 |
C |
T |
16: 59,036,383 (GRCm39) |
V198M |
probably benign |
Het |
Or5b97 |
G |
T |
19: 12,878,369 (GRCm39) |
F258L |
possibly damaging |
Het |
Or5m11 |
G |
T |
2: 85,781,862 (GRCm39) |
G152C |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,961 (GRCm39) |
S165G |
probably benign |
Het |
Or8k41 |
T |
A |
2: 86,313,573 (GRCm39) |
H171L |
probably benign |
Het |
Pak1 |
A |
G |
7: 97,557,088 (GRCm39) |
D495G |
probably benign |
Het |
Pcm1 |
G |
A |
8: 41,714,073 (GRCm39) |
R213H |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,052 (GRCm39) |
|
probably benign |
Het |
Proser1 |
C |
T |
3: 53,385,750 (GRCm39) |
T544M |
possibly damaging |
Het |
Rftn1 |
T |
C |
17: 50,354,334 (GRCm39) |
M343V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,715,079 (GRCm39) |
I4656V |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,414,007 (GRCm39) |
N239Y |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,313,512 (GRCm39) |
M1949I |
probably benign |
Het |
Sipa1l2 |
A |
G |
8: 126,171,223 (GRCm39) |
|
probably null |
Het |
Slc10a2 |
A |
C |
8: 5,148,581 (GRCm39) |
|
probably null |
Het |
Slc25a16 |
C |
T |
10: 62,773,256 (GRCm39) |
Q164* |
probably null |
Het |
Specc1l |
T |
C |
10: 75,082,001 (GRCm39) |
Y483H |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,896 (GRCm39) |
V434A |
probably benign |
Het |
Tarbp2 |
A |
G |
15: 102,426,914 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
C |
T |
18: 20,969,925 (GRCm39) |
V1022M |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,712,506 (GRCm39) |
V269A |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,641,382 (GRCm39) |
M78K |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,413,429 (GRCm39) |
T215A |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,971,025 (GRCm39) |
Y335H |
probably damaging |
Het |
Zfp994 |
T |
A |
17: 22,419,527 (GRCm39) |
Q474L |
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 |
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'- CACGTAGAGAAACCTTGGGC -3'
(R):5'- GTCTAGAGAGATACGGCCTTG -3'
Sequencing Primer
(F):5'- ACCTTGGGCATCATTAGAGTC -3'
(R):5'- CTTGGAAGGCTTCTCCTT -3'
|
Posted On |
2018-05-21 |