Incidental Mutation 'R0565:Ccdc88a'
ID |
46134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc88a
|
Ensembl Gene |
ENSMUSG00000032740 |
Gene Name |
coiled coil domain containing 88A |
Synonyms |
GIV, Girdin, D130005J21Rik, HkRP1, C330012F17Rik, C130096N06Rik, A430106J12Rik |
MMRRC Submission |
038756-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0565 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 29411042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040182]
[ENSMUST00000155854]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040182
|
SMART Domains |
Protein: ENSMUSP00000048978 Gene: ENSMUSG00000032740
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
14 |
590 |
8.1e-36 |
PFAM |
low complexity region
|
614 |
625 |
N/A |
INTRINSIC |
Blast:BRLZ
|
665 |
719 |
6e-22 |
BLAST |
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
low complexity region
|
883 |
895 |
N/A |
INTRINSIC |
low complexity region
|
955 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
coiled coil region
|
1268 |
1385 |
N/A |
INTRINSIC |
low complexity region
|
1437 |
1444 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1576 |
N/A |
INTRINSIC |
internal_repeat_1
|
1609 |
1702 |
2.38e-6 |
PROSPERO |
internal_repeat_1
|
1708 |
1808 |
2.38e-6 |
PROSPERO |
low complexity region
|
1811 |
1824 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137227
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155854
|
SMART Domains |
Protein: ENSMUSP00000115117 Gene: ENSMUSG00000032740
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
low complexity region
|
146 |
176 |
N/A |
INTRINSIC |
Blast:BRLZ
|
228 |
283 |
7e-6 |
BLAST |
low complexity region
|
284 |
295 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
100% (73/73) |
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 Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,682,200 (GRCm39) |
H1010L |
probably benign |
Het |
A2ml1 |
C |
A |
6: 128,545,706 (GRCm39) |
E474* |
probably null |
Het |
Agtr1b |
T |
C |
3: 20,369,838 (GRCm39) |
H256R |
probably damaging |
Het |
Amacr |
C |
T |
15: 10,982,032 (GRCm39) |
A46V |
possibly damaging |
Het |
Atosb |
A |
T |
4: 43,034,647 (GRCm39) |
|
probably benign |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,842 (GRCm39) |
E981G |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,839,382 (GRCm39) |
|
probably benign |
Het |
Cd200l1 |
T |
A |
16: 45,264,536 (GRCm39) |
|
probably benign |
Het |
Cemip |
G |
A |
7: 83,613,318 (GRCm39) |
H627Y |
probably damaging |
Het |
Cep131 |
G |
T |
11: 119,964,588 (GRCm39) |
H289Q |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,836,941 (GRCm39) |
|
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,840,425 (GRCm39) |
C169S |
probably benign |
Het |
Cps1 |
A |
T |
1: 67,205,608 (GRCm39) |
T544S |
possibly damaging |
Het |
Cul7 |
T |
C |
17: 46,962,929 (GRCm39) |
S187P |
probably damaging |
Het |
Dhx40 |
C |
A |
11: 86,661,993 (GRCm39) |
R688L |
probably damaging |
Het |
E330034G19Rik |
C |
A |
14: 24,356,985 (GRCm39) |
Q174K |
probably benign |
Het |
Efna5 |
T |
C |
17: 63,188,031 (GRCm39) |
Y32C |
probably damaging |
Het |
Ethe1 |
A |
G |
7: 24,307,314 (GRCm39) |
H176R |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,330,394 (GRCm39) |
|
probably null |
Het |
Fam135b |
T |
A |
15: 71,362,686 (GRCm39) |
N232Y |
possibly damaging |
Het |
Fndc9 |
C |
T |
11: 46,128,984 (GRCm39) |
L168F |
probably damaging |
Het |
Fpr-rs3 |
G |
A |
17: 20,844,283 (GRCm39) |
A286V |
probably damaging |
Het |
Immt |
T |
A |
6: 71,823,467 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,800 (GRCm39) |
|
probably benign |
Het |
Ipo8 |
A |
T |
6: 148,688,221 (GRCm39) |
L747H |
probably damaging |
Het |
Ireb2 |
A |
T |
9: 54,807,267 (GRCm39) |
N610Y |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,054,592 (GRCm39) |
V1280A |
probably damaging |
Het |
Kcnj3 |
T |
A |
2: 55,485,276 (GRCm39) |
M458K |
probably benign |
Het |
Kl |
A |
G |
5: 150,904,409 (GRCm39) |
K387R |
possibly damaging |
Het |
L3mbtl2 |
C |
A |
15: 81,568,487 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
C |
12: 31,348,914 (GRCm39) |
I649L |
probably benign |
Het |
Lipm |
A |
C |
19: 34,093,906 (GRCm39) |
L274F |
probably benign |
Het |
Lrfn3 |
A |
G |
7: 30,060,216 (GRCm39) |
V3A |
probably benign |
Het |
Lrrc8c |
A |
C |
5: 105,754,894 (GRCm39) |
D223A |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,212,898 (GRCm39) |
K554N |
probably benign |
Het |
Mertk |
T |
C |
2: 128,613,403 (GRCm39) |
I473T |
probably benign |
Het |
Mfsd12 |
C |
A |
10: 81,197,243 (GRCm39) |
N245K |
probably benign |
Het |
Mmp16 |
A |
G |
4: 17,987,705 (GRCm39) |
D89G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,087,394 (GRCm39) |
N1083K |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,999,294 (GRCm39) |
A1290V |
probably benign |
Het |
Nefm |
A |
G |
14: 68,362,070 (GRCm39) |
S65P |
probably damaging |
Het |
Nt5c2 |
C |
T |
19: 46,886,064 (GRCm39) |
R220H |
probably damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,353 (GRCm39) |
D68E |
probably benign |
Het |
Osbpl1a |
A |
T |
18: 12,892,501 (GRCm39) |
S438R |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,453,820 (GRCm39) |
S67P |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,118,409 (GRCm39) |
I228N |
probably damaging |
Het |
Pnpla7 |
T |
G |
2: 24,870,129 (GRCm39) |
|
probably benign |
Het |
Ppp1r15b |
G |
T |
1: 133,064,391 (GRCm39) |
|
probably benign |
Het |
Psmd2 |
G |
T |
16: 20,479,176 (GRCm39) |
L678F |
probably null |
Het |
Ptch2 |
A |
G |
4: 116,963,340 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,312,158 (GRCm39) |
D959E |
probably benign |
Het |
Rph3al |
C |
T |
11: 75,724,227 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
A |
19: 44,512,992 (GRCm39) |
E499V |
probably damaging |
Het |
Sel1l |
T |
C |
12: 91,778,663 (GRCm39) |
I667M |
probably benign |
Het |
Sel1l |
C |
A |
12: 91,780,719 (GRCm39) |
V641L |
possibly damaging |
Het |
Slc7a1 |
T |
A |
5: 148,288,879 (GRCm39) |
I123F |
probably damaging |
Het |
Smarca2 |
G |
A |
19: 26,659,275 (GRCm39) |
R855Q |
possibly damaging |
Het |
Sphk1 |
G |
T |
11: 116,427,184 (GRCm39) |
|
probably benign |
Het |
Spink12 |
C |
A |
18: 44,237,755 (GRCm39) |
S11* |
probably null |
Het |
Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,709,860 (GRCm39) |
T78A |
probably benign |
Het |
Trim11 |
T |
A |
11: 58,881,410 (GRCm39) |
S434R |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,266,812 (GRCm39) |
E1113G |
probably damaging |
Het |
Upb1 |
T |
A |
10: 75,264,188 (GRCm39) |
|
probably benign |
Het |
Vit |
T |
A |
17: 78,932,266 (GRCm39) |
C458S |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,414,165 (GRCm39) |
I22V |
probably benign |
Het |
Vps25 |
T |
C |
11: 101,149,731 (GRCm39) |
|
probably benign |
Het |
Wbp2 |
G |
T |
11: 115,973,211 (GRCm39) |
D65E |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,124,588 (GRCm39) |
D980G |
probably benign |
Het |
Xkr8 |
A |
C |
4: 132,458,228 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ccdc88a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Ccdc88a
|
APN |
11 |
29,449,341 (GRCm39) |
missense |
probably benign |
0.24 |
IGL00577:Ccdc88a
|
APN |
11 |
29,374,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00766:Ccdc88a
|
APN |
11 |
29,451,046 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01384:Ccdc88a
|
APN |
11 |
29,453,915 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01541:Ccdc88a
|
APN |
11 |
29,350,283 (GRCm39) |
missense |
probably benign |
|
IGL01647:Ccdc88a
|
APN |
11 |
29,454,321 (GRCm39) |
unclassified |
probably benign |
|
IGL02648:Ccdc88a
|
APN |
11 |
29,451,051 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02885:Ccdc88a
|
APN |
11 |
29,398,050 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03117:Ccdc88a
|
APN |
11 |
29,324,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03196:Ccdc88a
|
APN |
11 |
29,432,340 (GRCm39) |
missense |
possibly damaging |
0.56 |
trailor
|
UTSW |
11 |
29,444,099 (GRCm39) |
splice site |
probably null |
|
R0011:Ccdc88a
|
UTSW |
11 |
29,324,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R0011:Ccdc88a
|
UTSW |
11 |
29,324,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Ccdc88a
|
UTSW |
11 |
29,453,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0108:Ccdc88a
|
UTSW |
11 |
29,453,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0326:Ccdc88a
|
UTSW |
11 |
29,411,021 (GRCm39) |
missense |
probably benign |
0.01 |
R0631:Ccdc88a
|
UTSW |
11 |
29,443,752 (GRCm39) |
missense |
probably damaging |
0.98 |
R0632:Ccdc88a
|
UTSW |
11 |
29,432,749 (GRCm39) |
unclassified |
probably benign |
|
R0762:Ccdc88a
|
UTSW |
11 |
29,413,112 (GRCm39) |
unclassified |
probably benign |
|
R0838:Ccdc88a
|
UTSW |
11 |
29,350,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R0946:Ccdc88a
|
UTSW |
11 |
29,406,509 (GRCm39) |
missense |
probably benign |
|
R1192:Ccdc88a
|
UTSW |
11 |
29,454,049 (GRCm39) |
missense |
possibly damaging |
0.45 |
R1500:Ccdc88a
|
UTSW |
11 |
29,432,713 (GRCm39) |
missense |
probably benign |
0.00 |
R1701:Ccdc88a
|
UTSW |
11 |
29,427,427 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1826:Ccdc88a
|
UTSW |
11 |
29,439,637 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1902:Ccdc88a
|
UTSW |
11 |
29,411,788 (GRCm39) |
missense |
probably benign |
0.07 |
R1903:Ccdc88a
|
UTSW |
11 |
29,411,788 (GRCm39) |
missense |
probably benign |
0.07 |
R2021:Ccdc88a
|
UTSW |
11 |
29,453,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R2023:Ccdc88a
|
UTSW |
11 |
29,413,546 (GRCm39) |
nonsense |
probably null |
|
R2284:Ccdc88a
|
UTSW |
11 |
29,444,099 (GRCm39) |
splice site |
probably null |
|
R3236:Ccdc88a
|
UTSW |
11 |
29,397,995 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3409:Ccdc88a
|
UTSW |
11 |
29,436,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3410:Ccdc88a
|
UTSW |
11 |
29,436,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3411:Ccdc88a
|
UTSW |
11 |
29,436,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Ccdc88a
|
UTSW |
11 |
29,398,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R3620:Ccdc88a
|
UTSW |
11 |
29,380,227 (GRCm39) |
missense |
probably benign |
0.16 |
R4204:Ccdc88a
|
UTSW |
11 |
29,413,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Ccdc88a
|
UTSW |
11 |
29,432,651 (GRCm39) |
missense |
probably benign |
0.01 |
R4518:Ccdc88a
|
UTSW |
11 |
29,432,651 (GRCm39) |
missense |
probably benign |
0.01 |
R4519:Ccdc88a
|
UTSW |
11 |
29,432,651 (GRCm39) |
missense |
probably benign |
0.01 |
R4693:Ccdc88a
|
UTSW |
11 |
29,432,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Ccdc88a
|
UTSW |
11 |
29,372,586 (GRCm39) |
missense |
probably benign |
|
R4707:Ccdc88a
|
UTSW |
11 |
29,397,956 (GRCm39) |
missense |
probably benign |
|
R4732:Ccdc88a
|
UTSW |
11 |
29,435,906 (GRCm39) |
missense |
probably benign |
0.02 |
R4733:Ccdc88a
|
UTSW |
11 |
29,435,906 (GRCm39) |
missense |
probably benign |
0.02 |
R4734:Ccdc88a
|
UTSW |
11 |
29,432,720 (GRCm39) |
missense |
probably benign |
|
R4749:Ccdc88a
|
UTSW |
11 |
29,432,720 (GRCm39) |
missense |
probably benign |
|
R4817:Ccdc88a
|
UTSW |
11 |
29,410,907 (GRCm39) |
missense |
probably benign |
0.15 |
R4828:Ccdc88a
|
UTSW |
11 |
29,413,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R4979:Ccdc88a
|
UTSW |
11 |
29,432,133 (GRCm39) |
nonsense |
probably null |
|
R5288:Ccdc88a
|
UTSW |
11 |
29,448,416 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5373:Ccdc88a
|
UTSW |
11 |
29,413,409 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5374:Ccdc88a
|
UTSW |
11 |
29,413,409 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5401:Ccdc88a
|
UTSW |
11 |
29,413,279 (GRCm39) |
missense |
probably benign |
0.00 |
R5586:Ccdc88a
|
UTSW |
11 |
29,453,484 (GRCm39) |
missense |
probably benign |
0.00 |
R6660:Ccdc88a
|
UTSW |
11 |
29,432,663 (GRCm39) |
missense |
probably benign |
0.01 |
R7116:Ccdc88a
|
UTSW |
11 |
29,454,051 (GRCm39) |
missense |
probably benign |
0.01 |
R7353:Ccdc88a
|
UTSW |
11 |
29,413,368 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Ccdc88a
|
UTSW |
11 |
29,413,370 (GRCm39) |
missense |
probably benign |
0.00 |
R7663:Ccdc88a
|
UTSW |
11 |
29,448,614 (GRCm39) |
critical splice donor site |
probably null |
|
R7769:Ccdc88a
|
UTSW |
11 |
29,432,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Ccdc88a
|
UTSW |
11 |
29,427,348 (GRCm39) |
missense |
probably benign |
0.15 |
R7810:Ccdc88a
|
UTSW |
11 |
29,435,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7826:Ccdc88a
|
UTSW |
11 |
29,453,563 (GRCm39) |
missense |
probably benign |
0.02 |
R7956:Ccdc88a
|
UTSW |
11 |
29,413,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Ccdc88a
|
UTSW |
11 |
29,443,934 (GRCm39) |
missense |
probably benign |
0.01 |
R8402:Ccdc88a
|
UTSW |
11 |
29,413,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R8409:Ccdc88a
|
UTSW |
11 |
29,453,544 (GRCm39) |
missense |
probably benign |
|
R8555:Ccdc88a
|
UTSW |
11 |
29,380,169 (GRCm39) |
missense |
probably benign |
|
R8676:Ccdc88a
|
UTSW |
11 |
29,410,860 (GRCm39) |
missense |
probably benign |
0.05 |
R8846:Ccdc88a
|
UTSW |
11 |
29,414,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ccdc88a
|
UTSW |
11 |
29,448,416 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8972:Ccdc88a
|
UTSW |
11 |
29,435,888 (GRCm39) |
missense |
probably benign |
0.07 |
R9353:Ccdc88a
|
UTSW |
11 |
29,427,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9362:Ccdc88a
|
UTSW |
11 |
29,453,922 (GRCm39) |
missense |
probably null |
0.55 |
R9385:Ccdc88a
|
UTSW |
11 |
29,405,422 (GRCm39) |
missense |
probably benign |
0.24 |
R9509:Ccdc88a
|
UTSW |
11 |
29,414,143 (GRCm39) |
missense |
probably benign |
0.27 |
R9610:Ccdc88a
|
UTSW |
11 |
29,427,316 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9611:Ccdc88a
|
UTSW |
11 |
29,427,316 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9664:Ccdc88a
|
UTSW |
11 |
29,405,484 (GRCm39) |
missense |
probably benign |
0.08 |
R9720:Ccdc88a
|
UTSW |
11 |
29,413,813 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTTGGGCCATGAGGTAAATGAA -3'
(R):5'- GCCTCTCTGAATTCTCTCTGAGCGTC -3'
Sequencing Primer
(F):5'- TTGGGCCATGAGGTAAATGAATTAAC -3'
(R):5'- accccccaaaaacctttcatatac -3'
|
Posted On |
2013-06-11 |