Incidental Mutation 'R9049:Ccdc88b'
| ID |
688274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
068875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9049 (G1)
|
| Quality Score |
171.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6826442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1091
(R1091Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113440
AA Change: R1091Q
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: R1091Q
| 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: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,115,900 (GRCm39) |
I118V |
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,628,658 (GRCm39) |
L362P |
probably damaging |
Het |
| Adam7 |
C |
A |
14: 68,762,674 (GRCm39) |
V184F |
probably benign |
Het |
| Adgre4 |
T |
C |
17: 56,092,094 (GRCm39) |
I118T |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,114,597 (GRCm39) |
L3292P |
|
Het |
| Akr1b10 |
A |
G |
6: 34,373,561 (GRCm39) |
E308G |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,208,852 (GRCm39) |
Y323C |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,914,671 (GRCm39) |
V1767A |
probably benign |
Het |
| Bpifb3 |
C |
A |
2: 153,767,810 (GRCm39) |
N294K |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,096 (GRCm39) |
N182S |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,192,964 (GRCm39) |
I455T |
unknown |
Het |
| Camkmt |
A |
G |
17: 85,709,912 (GRCm39) |
I205M |
possibly damaging |
Het |
| Cfap58 |
A |
T |
19: 48,015,157 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,733,143 (GRCm39) |
I122L |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,707,066 (GRCm39) |
S2623C |
unknown |
Het |
| Cpne5 |
A |
G |
17: 29,379,332 (GRCm39) |
S484P |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,705,965 (GRCm39) |
L352Q |
probably damaging |
Het |
| Dcun1d1 |
T |
C |
3: 35,951,998 (GRCm39) |
N183D |
probably benign |
Het |
| Dgkg |
A |
G |
16: 22,419,338 (GRCm39) |
V54A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,443,275 (GRCm39) |
D561E |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,119,275 (GRCm39) |
L1536R |
probably damaging |
Het |
| Gm21834 |
G |
A |
17: 58,048,826 (GRCm39) |
T130I |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,451,955 (GRCm39) |
V434E |
possibly damaging |
Het |
| Htr3a |
C |
A |
9: 48,811,087 (GRCm39) |
V459L |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,435,735 (GRCm39) |
V657A |
probably benign |
Het |
| Mdfi |
C |
A |
17: 48,135,479 (GRCm39) |
V84L |
probably damaging |
Het |
| Mdm1 |
C |
T |
10: 117,982,605 (GRCm39) |
T80M |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,362,712 (GRCm39) |
I2008L |
unknown |
Het |
| Nomo1 |
A |
G |
7: 45,715,597 (GRCm39) |
D681G |
probably benign |
Het |
| Or10g9 |
G |
T |
9: 39,911,919 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or14j6 |
G |
A |
17: 38,214,764 (GRCm39) |
W109* |
probably null |
Het |
| Or1af1 |
C |
G |
2: 37,109,959 (GRCm39) |
H153D |
probably damaging |
Het |
| Or1p1c |
A |
G |
11: 74,161,115 (GRCm39) |
K300R |
possibly damaging |
Het |
| Or5h25 |
T |
G |
16: 58,930,763 (GRCm39) |
D70A |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,235 (GRCm39) |
E17G |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,045 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,819,890 (GRCm39) |
T676S |
unknown |
Het |
| Pld3 |
C |
T |
7: 27,235,293 (GRCm39) |
V312M |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,854,391 (GRCm39) |
W12R |
unknown |
Het |
| Polr3e |
A |
G |
7: 120,538,462 (GRCm39) |
K410R |
probably benign |
Het |
| Ppif |
G |
T |
14: 25,694,836 (GRCm39) |
V61L |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,486 (GRCm39) |
N30S |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,256,130 (GRCm39) |
L1167R |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,518 (GRCm39) |
|
probably benign |
Het |
| Prl3a1 |
T |
A |
13: 27,460,167 (GRCm39) |
L217H |
probably damaging |
Het |
| Prop1 |
G |
C |
11: 50,842,948 (GRCm39) |
Q80E |
probably damaging |
Het |
| Psma1 |
T |
C |
7: 113,865,764 (GRCm39) |
I214V |
probably benign |
Het |
| Ptgfr |
T |
A |
3: 151,541,404 (GRCm39) |
I35F |
probably benign |
Het |
| Rcvrn |
A |
T |
11: 67,586,568 (GRCm39) |
Y109F |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,574,646 (GRCm39) |
D525G |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,054,863 (GRCm39) |
R835* |
probably null |
Het |
| Sqle |
T |
C |
15: 59,189,711 (GRCm39) |
F118L |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,510,418 (GRCm39) |
Y333F |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,100,090 (GRCm39) |
R95C |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Tmem161b |
G |
T |
13: 84,442,754 (GRCm39) |
A407S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,918,247 (GRCm39) |
D1221E |
possibly damaging |
Het |
| Tnks |
T |
C |
8: 35,308,932 (GRCm39) |
K1109R |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,992,502 (GRCm39) |
V194A |
possibly damaging |
Het |
| Ust |
G |
A |
10: 8,183,218 (GRCm39) |
Q162* |
probably null |
Het |
| Utp15 |
T |
C |
13: 98,395,778 (GRCm39) |
Y68C |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,826,224 (GRCm39) |
H3193Q |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,418,908 (GRCm39) |
Y4C |
probably 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 |
|
|
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'- AAAGTTGAGGAGCCCAGACC -3'
(R):5'- TCTCACCTTAGGCTGAAAAGTC -3'
Sequencing Primer
(F):5'- ATGGAATATCCCCTTGGGTCAGAC -3'
(R):5'- CACCTTAGGCTGAAAAGTCAATGATG -3'
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| Posted On |
2021-11-19 |
Incidental Mutation