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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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