Incidental Mutation 'R4518:Ccdc88a'
ID |
334082 |
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 |
041762-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4518 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29432651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1219
(I1219T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040182]
[ENSMUST00000140194]
[ENSMUST00000155854]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040182
AA Change: I1219T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000048978 Gene: ENSMUSG00000032740 AA Change: I1219T
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 |
unknown
Transcript: ENSMUST00000123561
AA Change: I199T
|
SMART Domains |
Protein: ENSMUSP00000119173 Gene: ENSMUSG00000032740 AA Change: I199T
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
212 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
365 |
N/A |
INTRINSIC |
low complexity region
|
418 |
425 |
N/A |
INTRINSIC |
low complexity region
|
547 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140194
|
SMART Domains |
Protein: ENSMUSP00000114942 Gene: ENSMUSG00000032740
Domain | Start | End | E-Value | Type |
coiled coil region
|
3 |
85 |
N/A |
INTRINSIC |
low complexity region
|
137 |
144 |
N/A |
INTRINSIC |
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (60/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082J24Rik |
T |
A |
5: 30,311,006 (GRCm39) |
|
probably null |
Het |
Abr |
A |
G |
11: 76,363,344 (GRCm39) |
S167P |
possibly damaging |
Het |
Adamtsl2 |
T |
C |
2: 26,985,559 (GRCm39) |
L481P |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
Brip1 |
G |
A |
11: 85,968,704 (GRCm39) |
A827V |
possibly damaging |
Het |
Carns1 |
T |
G |
19: 4,220,069 (GRCm39) |
T389P |
probably benign |
Het |
Cckar |
T |
C |
5: 53,857,264 (GRCm39) |
N311S |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
Chpf |
G |
T |
1: 75,451,689 (GRCm39) |
S588R |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,514,466 (GRCm39) |
T414S |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,038,986 (GRCm39) |
E1092G |
probably damaging |
Het |
Crb2 |
C |
A |
2: 37,680,401 (GRCm39) |
T443K |
probably damaging |
Het |
Crppa |
G |
A |
12: 36,523,179 (GRCm39) |
V203I |
possibly damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,121,473 (GRCm39) |
V25A |
probably damaging |
Het |
Cyb561d1 |
T |
C |
3: 108,106,887 (GRCm39) |
I111V |
possibly damaging |
Het |
Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
Dnajb4 |
T |
C |
3: 151,890,813 (GRCm39) |
I329V |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,823,274 (GRCm39) |
D1055E |
probably benign |
Het |
Fam168a |
C |
T |
7: 100,483,247 (GRCm39) |
A176V |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,548,363 (GRCm39) |
E1016G |
probably benign |
Het |
Fibcd1 |
A |
T |
2: 31,707,207 (GRCm39) |
V350E |
probably damaging |
Het |
Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,749,625 (GRCm39) |
E3076K |
probably damaging |
Het |
Grm7 |
A |
G |
6: 110,891,507 (GRCm39) |
|
probably null |
Het |
Hcn2 |
T |
C |
10: 79,560,536 (GRCm39) |
V289A |
probably benign |
Het |
Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
Klf14 |
A |
G |
6: 30,934,867 (GRCm39) |
S256P |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,230,489 (GRCm39) |
T1214S |
probably benign |
Het |
Nlrp2 |
T |
A |
7: 5,328,055 (GRCm39) |
D666V |
possibly damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,100,263 (GRCm39) |
M150V |
probably benign |
Het |
Or7d9 |
A |
G |
9: 20,197,546 (GRCm39) |
I184V |
probably benign |
Het |
Or7g27 |
T |
A |
9: 19,250,556 (GRCm39) |
S267T |
possibly damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,024,289 (GRCm39) |
D360G |
probably benign |
Het |
Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
Pdss2 |
T |
A |
10: 43,248,146 (GRCm39) |
S217T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Prlr |
C |
A |
15: 10,329,085 (GRCm39) |
T520K |
possibly damaging |
Het |
Prokr2 |
T |
A |
2: 132,216,012 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
Reln |
T |
C |
5: 22,106,741 (GRCm39) |
I3210V |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,300,922 (GRCm39) |
Y218H |
probably damaging |
Het |
Slc41a1 |
T |
C |
1: 131,766,863 (GRCm39) |
V127A |
probably damaging |
Het |
St8sia6 |
T |
A |
2: 13,797,562 (GRCm39) |
|
probably null |
Het |
Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,324,094 (GRCm39) |
Q314* |
probably null |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,743,124 (GRCm39) |
V445M |
possibly damaging |
Het |
Ypel1 |
A |
T |
16: 16,913,905 (GRCm39) |
F173I |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,477,578 (GRCm39) |
C3398R |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,657,820 (GRCm39) |
E697G |
possibly damaging |
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 |
R0565:Ccdc88a
|
UTSW |
11 |
29,411,042 (GRCm39) |
unclassified |
probably benign |
|
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 |
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'- AAAGACCTTGAAGACCGGTAAC -3'
(R):5'- CCTGGTAAGTCTAAATTGTGACTG -3'
Sequencing Primer
(F):5'- GACCTTGAAGACCGGTAACTTATC -3'
(R):5'- TGTGACTGCTATTAAACACACAC -3'
|
Posted On |
2015-08-18 |