Incidental Mutation 'R2021:Ccdc88a'
ID |
224007 |
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 |
040030-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2021 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
29323658-29460808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 29453480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1614
(S1614R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040182]
[ENSMUST00000140194]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040182
AA Change: S1614R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048978 Gene: ENSMUSG00000032740 AA Change: S1614R
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 |
probably damaging
Transcript: ENSMUST00000123561
AA Change: S594R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119173 Gene: ENSMUSG00000032740 AA Change: S594R
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 damaging
Transcript: ENSMUST00000140194
AA Change: S342R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114942 Gene: ENSMUSG00000032740 AA Change: S342R
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
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 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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,035,450 (GRCm39) |
S316T |
probably damaging |
Het |
Alox8 |
C |
T |
11: 69,077,114 (GRCm39) |
V460I |
probably damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,908,385 (GRCm39) |
S462P |
probably damaging |
Het |
Arvcf |
G |
A |
16: 18,218,482 (GRCm39) |
A491T |
probably damaging |
Het |
Asnsd1 |
A |
G |
1: 53,386,386 (GRCm39) |
S414P |
possibly damaging |
Het |
Btbd7 |
A |
G |
12: 102,756,968 (GRCm39) |
L706P |
probably damaging |
Het |
Camk2d |
T |
A |
3: 126,574,105 (GRCm39) |
W171R |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,712,332 (GRCm39) |
S124T |
probably benign |
Het |
Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
Ccdc182 |
T |
C |
11: 88,184,962 (GRCm39) |
V14A |
possibly damaging |
Het |
Ccdc80 |
A |
T |
16: 44,943,275 (GRCm39) |
Q795L |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,822,114 (GRCm39) |
A1170T |
possibly damaging |
Het |
Clcn6 |
A |
G |
4: 148,095,109 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,313,360 (GRCm39) |
V3070A |
probably benign |
Het |
Dst |
G |
A |
1: 34,205,372 (GRCm39) |
V1025I |
possibly damaging |
Het |
Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
Elk3 |
T |
A |
10: 93,101,539 (GRCm39) |
I71F |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,306,300 (GRCm39) |
I276N |
probably damaging |
Het |
Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
Golph3l |
T |
A |
3: 95,524,668 (GRCm39) |
D306E |
probably benign |
Het |
Grk2 |
T |
A |
19: 4,340,698 (GRCm39) |
I254F |
probably damaging |
Het |
Hgf |
C |
T |
5: 16,781,919 (GRCm39) |
T214I |
probably benign |
Het |
Hoxc5 |
C |
A |
15: 102,922,814 (GRCm39) |
|
probably null |
Het |
Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
Ipp |
A |
G |
4: 116,372,565 (GRCm39) |
Y198C |
probably benign |
Het |
Ism1 |
T |
A |
2: 139,582,047 (GRCm39) |
|
probably null |
Het |
Klhl42 |
A |
G |
6: 146,993,394 (GRCm39) |
Y122C |
possibly damaging |
Het |
Klk1b21 |
A |
T |
7: 43,755,418 (GRCm39) |
K206* |
probably null |
Het |
Lcn11 |
A |
G |
2: 25,668,097 (GRCm39) |
K85R |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
Matn4 |
A |
G |
2: 164,242,573 (GRCm39) |
V175A |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,082,545 (GRCm39) |
N1372Y |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,284,677 (GRCm39) |
|
probably null |
Het |
Nudt2 |
A |
G |
4: 41,480,255 (GRCm39) |
D46G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,958,000 (GRCm39) |
D3567N |
probably benign |
Het |
Or1j17 |
G |
C |
2: 36,578,487 (GRCm39) |
V158L |
probably benign |
Het |
Or2z9 |
G |
T |
8: 72,853,930 (GRCm39) |
V109F |
possibly damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
Ppm1h |
T |
A |
10: 122,714,433 (GRCm39) |
L324* |
probably null |
Het |
Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,494,873 (GRCm39) |
V748I |
probably benign |
Het |
Prss47 |
A |
G |
13: 65,199,591 (GRCm39) |
V96A |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,821,789 (GRCm39) |
T8I |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCGGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,006,182 (GRCm39) |
V302A |
probably benign |
Het |
Sfrp4 |
A |
T |
13: 19,816,496 (GRCm39) |
I177F |
probably benign |
Het |
Sh3bp2 |
A |
G |
5: 34,701,569 (GRCm39) |
|
probably benign |
Het |
Slc7a12 |
A |
G |
3: 14,562,393 (GRCm39) |
T257A |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,817,234 (GRCm39) |
V266D |
probably damaging |
Het |
Specc1l |
T |
C |
10: 75,103,425 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,534,716 (GRCm39) |
T3658A |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,928,392 (GRCm39) |
W407R |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,101,725 (GRCm39) |
T68A |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,679,592 (GRCm39) |
I189V |
probably benign |
Het |
Trrap |
A |
G |
5: 144,790,298 (GRCm39) |
N3586S |
possibly damaging |
Het |
Usp14 |
T |
C |
18: 10,024,632 (GRCm39) |
T22A |
probably damaging |
Het |
Vmn1r68 |
A |
G |
7: 10,261,918 (GRCm39) |
L60P |
probably damaging |
Het |
Vmn2r108 |
G |
A |
17: 20,691,252 (GRCm39) |
H424Y |
probably benign |
Het |
Wdr81 |
C |
A |
11: 75,336,788 (GRCm39) |
E1534* |
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,635 (GRCm39) |
E976G |
probably damaging |
Het |
Zfp128 |
T |
C |
7: 12,623,956 (GRCm39) |
L108P |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,783,548 (GRCm39) |
I1000V |
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 |
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'- TCCAGTTGTTATACTGAGGAACAAG -3'
(R):5'- ACCTGTATTGAGGTAAGCTTGTTGC -3'
Sequencing Primer
(F):5'- TGAGGAACAAGTAACATAGCTTACC -3'
(R):5'- GCTTTCTTCCAAAAACTGTTGTAGAG -3'
|
Posted On |
2014-08-25 |