Incidental Mutation 'IGL01347:Ccdc88b'
ID |
75118 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc88b
|
Ensembl Gene |
ENSMUSG00000047810 |
Gene Name |
coiled-coil domain containing 88B |
Synonyms |
2610041P08Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01347
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6822454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1475
(L1475P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025903]
[ENSMUST00000113440]
[ENSMUST00000170516]
|
AlphaFold |
Q4QRL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025903
|
SMART Domains |
Protein: ENSMUSP00000025903 Gene: ENSMUSG00000024952
Domain | Start | End | E-Value | Type |
S_TKc
|
33 |
301 |
1.93e-98 |
SMART |
S_TK_X
|
302 |
363 |
5.72e-14 |
SMART |
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
S_TKc
|
411 |
674 |
1.15e-87 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113440
AA Change: L1475P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109067 Gene: ENSMUSG00000047810 AA Change: L1475P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170516
|
SMART Domains |
Protein: ENSMUSP00000131581 Gene: ENSMUSG00000024952
Domain | Start | End | E-Value | Type |
S_TKc
|
33 |
301 |
1.93e-98 |
SMART |
S_TK_X
|
302 |
363 |
5.72e-14 |
SMART |
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
S_TKc
|
411 |
674 |
1.15e-87 |
SMART |
|
Coding Region Coverage |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
A |
T |
6: 48,909,477 (GRCm39) |
Y574F |
probably benign |
Het |
Apc |
C |
T |
18: 34,450,723 (GRCm39) |
P2506S |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,206,711 (GRCm39) |
K610N |
possibly damaging |
Het |
Bri3bp |
T |
G |
5: 125,531,581 (GRCm39) |
C176G |
probably damaging |
Het |
Carnmt1 |
A |
G |
19: 18,668,818 (GRCm39) |
I248V |
probably benign |
Het |
Cfap100 |
C |
T |
6: 90,383,103 (GRCm39) |
V511M |
possibly damaging |
Het |
Chchd3 |
T |
C |
6: 32,780,838 (GRCm39) |
N78S |
probably benign |
Het |
Cnnm4 |
G |
A |
1: 36,537,115 (GRCm39) |
E480K |
possibly damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,500,978 (GRCm39) |
I385F |
possibly damaging |
Het |
D930048N14Rik |
T |
A |
11: 51,545,615 (GRCm39) |
|
probably benign |
Het |
Dgkg |
A |
T |
16: 22,419,340 (GRCm39) |
D53E |
probably benign |
Het |
Dlx3 |
T |
A |
11: 95,011,359 (GRCm39) |
L71H |
probably damaging |
Het |
Egln2 |
A |
C |
7: 26,859,717 (GRCm39) |
V332G |
probably null |
Het |
Entpd2 |
A |
G |
2: 25,288,746 (GRCm39) |
Q250R |
probably benign |
Het |
Epyc |
A |
G |
10: 97,510,593 (GRCm39) |
D132G |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,543,114 (GRCm39) |
D637G |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,596,708 (GRCm39) |
|
probably null |
Het |
Gbp11 |
G |
A |
5: 105,479,194 (GRCm39) |
|
probably benign |
Het |
Gm17175 |
A |
T |
14: 51,808,307 (GRCm39) |
C162S |
probably damaging |
Het |
Gm5499 |
C |
T |
17: 87,386,339 (GRCm39) |
|
noncoding transcript |
Het |
Gps1 |
T |
C |
11: 120,679,086 (GRCm39) |
V378A |
probably benign |
Het |
Grik1 |
C |
T |
16: 87,754,481 (GRCm39) |
R368Q |
probably benign |
Het |
Gsap |
A |
G |
5: 21,431,318 (GRCm39) |
E214G |
probably benign |
Het |
H2bc13 |
A |
G |
13: 21,900,064 (GRCm39) |
Y84H |
probably damaging |
Het |
Jdp2 |
T |
C |
12: 85,655,020 (GRCm39) |
S28P |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,698,240 (GRCm39) |
F577S |
probably damaging |
Het |
Kl |
G |
A |
5: 150,904,130 (GRCm39) |
G294D |
probably damaging |
Het |
Lgsn |
T |
A |
1: 31,243,041 (GRCm39) |
D374E |
probably damaging |
Het |
Lman1 |
T |
C |
18: 66,124,681 (GRCm39) |
I353V |
probably damaging |
Het |
Lmna |
T |
C |
3: 88,392,270 (GRCm39) |
H374R |
probably benign |
Het |
Lrrc57 |
A |
G |
2: 120,439,286 (GRCm39) |
S31P |
probably benign |
Het |
Lum |
T |
A |
10: 97,404,547 (GRCm39) |
N147K |
probably damaging |
Het |
Or6n2 |
T |
C |
1: 173,897,632 (GRCm39) |
I256T |
probably benign |
Het |
Or7a41 |
A |
G |
10: 78,871,445 (GRCm39) |
T272A |
probably benign |
Het |
P4ha3 |
C |
A |
7: 99,955,140 (GRCm39) |
L332I |
probably damaging |
Het |
Pelp1 |
A |
G |
11: 70,286,505 (GRCm39) |
I541T |
probably damaging |
Het |
Pja2 |
A |
C |
17: 64,620,023 (GRCm39) |
S2A |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,244,268 (GRCm39) |
L325P |
probably damaging |
Het |
Robo2 |
T |
C |
16: 74,149,744 (GRCm39) |
D28G |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,198,111 (GRCm39) |
Y470H |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,434,645 (GRCm39) |
N430S |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,414,538 (GRCm39) |
I62L |
probably benign |
Het |
Scn5a |
T |
A |
9: 119,391,507 (GRCm39) |
K62* |
probably null |
Het |
Sec23ip |
T |
C |
7: 128,364,129 (GRCm39) |
V469A |
probably benign |
Het |
Shank1 |
A |
G |
7: 43,991,544 (GRCm39) |
T663A |
unknown |
Het |
Slco1a7 |
A |
T |
6: 141,700,192 (GRCm39) |
Y113* |
probably null |
Het |
Stab2 |
G |
T |
10: 86,737,567 (GRCm39) |
|
probably null |
Het |
Tmcc3 |
T |
C |
10: 94,418,147 (GRCm39) |
L305P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,014,260 (GRCm39) |
N458S |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,302,738 (GRCm39) |
R1412Q |
probably damaging |
Het |
Wdr1 |
A |
T |
5: 38,703,058 (GRCm39) |
F173I |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,104,380 (GRCm39) |
V898I |
probably benign |
Het |
Wdr64 |
A |
T |
1: 175,547,899 (GRCm39) |
L145F |
probably benign |
Het |
Wnt10b |
A |
G |
15: 98,674,826 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,298,957 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ccdc88b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-10-07 |