Incidental Mutation 'R7538:Ccdc88a'
ID 583739
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 045610-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7538 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 29323658-29460808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29413370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 636 (H636L)
Ref Sequence ENSEMBL: ENSMUSP00000048978 (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: H636L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: H636L

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 C A 9: 30,864,766 (GRCm39) P419H probably damaging Het
Adgra3 C T 5: 50,118,792 (GRCm39) V919I probably benign Het
Akap12 G A 10: 4,303,213 (GRCm39) V113I probably damaging Het
Akr1d1 T A 6: 37,513,043 (GRCm39) I113K probably benign Het
Alx3 A T 3: 107,511,680 (GRCm39) I230F probably damaging Het
Apob A T 12: 8,052,219 (GRCm39) D1220V probably damaging Het
Ascc3 T C 10: 50,721,796 (GRCm39) L2083P probably damaging Het
Atp10b A G 11: 43,116,373 (GRCm39) I907V probably benign Het
B4galnt3 G T 6: 120,271,384 (GRCm39) S46* probably null Het
Bfsp1 A C 2: 143,673,755 (GRCm39) probably null Het
Cant1 G A 11: 118,302,291 (GRCm39) R9W possibly damaging Het
Cfi G A 3: 129,652,464 (GRCm39) R297H probably benign Het
Cherp T A 8: 73,216,263 (GRCm39) Q749L Het
Clec10a A G 11: 70,060,604 (GRCm39) D153G probably benign Het
Cnga1 T C 5: 72,769,723 (GRCm39) K99E probably benign Het
Cyp2r1 A T 7: 114,162,002 (GRCm39) V64D probably damaging Het
Dact3 T A 7: 16,609,443 (GRCm39) W32R probably damaging Het
Dennd4c T C 4: 86,692,753 (GRCm39) C88R probably damaging Het
Dock8 A T 19: 25,135,782 (GRCm39) D1200V probably damaging Het
Drosha C G 15: 12,926,329 (GRCm39) S1262W probably damaging Het
Dtnb T C 12: 3,823,611 (GRCm39) M592T possibly damaging Het
Eef2k T A 7: 120,491,215 (GRCm39) V567E probably benign Het
Fem1b A G 9: 62,718,449 (GRCm39) S47P probably damaging Het
Fryl T C 5: 73,180,019 (GRCm39) E2864G probably benign Het
Fscn2 A G 11: 120,258,152 (GRCm39) N358S possibly damaging Het
Fsip2 T C 2: 82,818,894 (GRCm39) S4876P possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Grhl2 T C 15: 37,328,603 (GRCm39) Y410H probably damaging Het
Gucy2c C T 6: 136,686,742 (GRCm39) G831D probably damaging Het
Hars1 A T 18: 36,904,194 (GRCm39) D228E probably benign Het
Hdhd5 T C 6: 120,498,257 (GRCm39) D114G possibly damaging Het
Kcna2 A G 3: 107,011,884 (GRCm39) Y155C probably benign Het
Klc1 A G 12: 111,751,879 (GRCm39) K441R probably benign Het
Kmt2a A G 9: 44,759,041 (GRCm39) L936P probably damaging Het
Map3k6 T C 4: 132,979,238 (GRCm39) V1197A probably benign Het
Mthfsd C T 8: 121,825,525 (GRCm39) A349T probably benign Het
Mtmr7 G A 8: 41,050,427 (GRCm39) R123W probably damaging Het
Muc16 T A 9: 18,553,427 (GRCm39) I4289F probably benign Het
Muc16 G A 9: 18,566,747 (GRCm39) T1924I unknown Het
Mybpc3 A C 2: 90,950,832 (GRCm39) D220A probably damaging Het
Neb A T 2: 52,146,587 (GRCm39) probably null Het
Nectin2 A G 7: 19,464,544 (GRCm39) W287R probably damaging Het
Nipsnap1 A T 11: 4,834,089 (GRCm39) T114S probably damaging Het
Nol9 T C 4: 152,124,115 (GRCm39) S102P probably benign Het
Olfml2b A T 1: 170,477,402 (GRCm39) K179I possibly damaging Het
Or4a80 G T 2: 89,582,665 (GRCm39) P169H probably damaging Het
Pcnt T C 10: 76,235,773 (GRCm39) M1403V probably benign Het
Phf7 T C 14: 30,960,386 (GRCm39) D284G probably benign Het
Pias3 A G 3: 96,609,534 (GRCm39) T319A possibly damaging Het
Pik3ip1 A T 11: 3,283,558 (GRCm39) I189F probably damaging Het
Pik3r1 T A 13: 101,825,914 (GRCm39) T371S probably damaging Het
Prmt7 A G 8: 106,964,018 (GRCm39) D304G probably benign Het
Prpf6 T C 2: 181,294,248 (GRCm39) V818A probably benign Het
Pstpip2 A G 18: 77,959,305 (GRCm39) E185G probably damaging Het
Ptprz1 T G 6: 22,999,895 (GRCm39) F662V possibly damaging Het
Rasgrp3 T C 17: 75,803,411 (GRCm39) F70L probably benign Het
Rcor1 A T 12: 111,034,271 (GRCm39) probably null Het
Rnasel A G 1: 153,630,306 (GRCm39) K274R probably benign Het
Rsbn1l G A 5: 21,101,455 (GRCm39) T695I probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sema3a T C 5: 13,611,787 (GRCm39) V351A probably benign Het
Serpina12 A G 12: 104,004,587 (GRCm39) L15P unknown Het
Siah1a G A 8: 87,451,840 (GRCm39) R215C probably benign Het
Sin3a T A 9: 57,011,210 (GRCm39) V489D possibly damaging Het
Slc22a17 A G 14: 55,149,575 (GRCm39) I208T probably benign Het
Slc36a4 G A 9: 15,645,511 (GRCm39) V313M possibly damaging Het
Sod1 T A 16: 90,023,114 (GRCm39) L145* probably null Het
Svep1 T C 4: 58,053,260 (GRCm39) N3362D possibly damaging Het
Taf4b T C 18: 14,946,602 (GRCm39) L475P probably damaging Het
Telo2 G T 17: 25,329,795 (GRCm39) T239K probably benign Het
Trmt11 T G 10: 30,436,870 (GRCm39) D290A probably damaging Het
Trpc4 A T 3: 54,225,516 (GRCm39) D955V possibly damaging Het
Trpv6 T C 6: 41,603,101 (GRCm39) N257S probably benign Het
Usp12 T C 5: 146,731,430 (GRCm39) T15A probably benign Het
Vars2 G T 17: 35,971,672 (GRCm39) Q526K probably damaging Het
Vipas39 A G 12: 87,310,677 (GRCm39) probably null Het
Zfp689 A T 7: 127,044,010 (GRCm39) C207S probably damaging Het
Zfpl1 C A 19: 6,134,432 (GRCm39) E18* probably null 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
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
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'- CTCCCAGATTAGTGCTGAGG -3'
(R):5'- CGCTCCTTCGCAGTTCTAAG -3'

Sequencing Primer
(F):5'- CCAGATTAGTGCTGAGGCGAGAG -3'
(R):5'- GCAGTTCTAAGTTTTCTTCATCGAG -3'
Posted On 2019-10-17