Incidental Mutation 'R1701:Ccdc88a'
| ID |
189741 |
| 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 |
039734-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1701 (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 C
at 29427427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 235
(V235A)
|
| 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
AA Change: V1044A
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: V1044A
| 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 benign
Transcript: ENSMUST00000123561
|
| SMART Domains |
Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
| 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 |
possibly damaging
Transcript: ENSMUST00000155854
AA Change: V235A
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115117
Gene: ENSMUSG00000032740
AA Change: V235A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,142 (GRCm39) |
L53P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,026,213 (GRCm39) |
F19I |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,147,598 (GRCm39) |
G303S |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,816 (GRCm39) |
Y171H |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,510,229 (GRCm39) |
I385N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,877 (GRCm39) |
T324S |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,076,255 (GRCm39) |
K258R |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,439,335 (GRCm39) |
E786G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,922,127 (GRCm39) |
D918N |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,802,750 (GRCm39) |
S200P |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,576 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,750 (GRCm39) |
T422A |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,331,578 (GRCm39) |
H1137R |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,748,643 (GRCm39) |
S706N |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,114 (GRCm39) |
L357P |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,726 (GRCm39) |
S476G |
probably benign |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,450 (GRCm39) |
T34A |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,231,656 (GRCm39) |
L443P |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,618,694 (GRCm39) |
D233E |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,466,394 (GRCm39) |
K75E |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,617 (GRCm39) |
I259L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,863,162 (GRCm39) |
C108R |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,401,993 (GRCm39) |
I111V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,872,539 (GRCm39) |
N936S |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,170,964 (GRCm39) |
C125F |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,129 (GRCm39) |
C179F |
probably damaging |
Het |
| Or2h2 |
C |
T |
17: 37,396,623 (GRCm39) |
V145M |
probably benign |
Het |
| Or51a10 |
T |
C |
7: 103,699,402 (GRCm39) |
E53G |
possibly damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,651 (GRCm39) |
I46T |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,731 (GRCm39) |
Q142P |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,894 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c202 |
T |
C |
10: 128,995,974 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,662,365 (GRCm39) |
I228F |
probably damaging |
Het |
| Pate8 |
A |
G |
9: 36,493,114 (GRCm39) |
|
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,645,400 (GRCm39) |
P836S |
probably damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,911,415 (GRCm39) |
F189S |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,342,054 (GRCm39) |
D487G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
| Robo4 |
G |
T |
9: 37,314,739 (GRCm39) |
V198L |
probably benign |
Het |
| Selenbp1 |
C |
A |
3: 94,844,701 (GRCm39) |
H119Q |
probably damaging |
Het |
| Slc25a13 |
T |
C |
6: 6,152,525 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
A |
G |
1: 125,498,330 (GRCm39) |
E176G |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,552,096 (GRCm39) |
V2512M |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,682,188 (GRCm39) |
|
probably null |
Het |
| Trim30d |
C |
T |
7: 104,133,389 (GRCm39) |
W21* |
probably null |
Het |
| Ube3c |
G |
A |
5: 29,806,200 (GRCm39) |
V281I |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,783 (GRCm39) |
K383R |
probably benign |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,529 (GRCm39) |
Y138F |
probably damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,395 (GRCm39) |
V186A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,754 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,935 (GRCm39) |
F785S |
probably damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,470 (GRCm39) |
Y334F |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,638,282 (GRCm39) |
I317V |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,060 (GRCm39) |
I259T |
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 |
|
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 |
|
| Posted On |
2014-05-14 |
Incidental Mutation