Mutagenetix > Incidental Mutation

Incidental Mutation 'R4707:Ccdc88a'

355349

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

041955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4707 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29323658-29460808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29397956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 230 (S230T)

Ref Sequence

ENSEMBL: ENSMUSP00000048978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040182]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040182
AA Change: S230T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: S230T

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,544 (GRCm39)	K450R	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Abcf3	A	G	16: 20,367,808 (GRCm39)	K56E	possibly damaging	Het
Acaca	T	C	11: 84,203,680 (GRCm39)	V1477A	probably damaging	Het
Adamts20	G	A	15: 94,231,528 (GRCm39)	P887L	possibly damaging	Het
Ahnak	T	G	19: 8,994,099 (GRCm39)	S5128A	probably benign	Het
Ahsa2	C	A	11: 23,443,162 (GRCm39)	V197F	probably benign	Het
Ak9	C	A	10: 41,221,456 (GRCm39)	H402N	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Ankrd16	A	G	2: 11,783,608 (GRCm39)	D70G	probably damaging	Het
Apob	A	T	12: 8,056,205 (GRCm39)	K1562N	probably damaging	Het
Arfgap2	C	A	2: 91,100,316 (GRCm39)	S250R	probably damaging	Het
Arhgef10l	C	T	4: 140,264,194 (GRCm39)	M671I	possibly damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
C8a	A	G	4: 104,713,618 (GRCm39)	Y171H	probably damaging	Het
Cacnb4	A	G	2: 52,364,927 (GRCm39)	V112A	probably benign	Het
Capn9	G	T	8: 125,340,195 (GRCm39)	C566F	possibly damaging	Het
Cd300c2	A	T	11: 114,887,811 (GRCm39)	F197Y	probably benign	Het
Chd5	A	G	4: 152,445,039 (GRCm39)	Y340C	probably damaging	Het
Chrd	A	T	16: 20,557,558 (GRCm39)	I726F	possibly damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clasp1	T	A	1: 118,470,927 (GRCm39)	Y197*	probably null	Het
Cyp2c69	C	G	19: 39,837,852 (GRCm39)	G410A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Dnah5	A	T	15: 28,372,521 (GRCm39)	D2924V	probably damaging	Het
Efcab12	A	T	6: 115,791,510 (GRCm39)	L554Q	possibly damaging	Het
Emsy	T	C	7: 98,246,311 (GRCm39)	T228A	possibly damaging	Het
Evc2	G	A	5: 37,579,204 (GRCm39)	V1106I	probably benign	Het
Exoc8	G	T	8: 125,624,209 (GRCm39)	Q53K	possibly damaging	Het
Fbn2	A	T	18: 58,189,344 (GRCm39)	V1594D	probably damaging	Het
Fer1l4	T	C	2: 155,887,543 (GRCm39)	Y551C	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Fmnl3	A	G	15: 99,221,362 (GRCm39)	M481T	probably benign	Het
Fras1	A	G	5: 96,883,097 (GRCm39)	N2543S	probably damaging	Het
Fsd2	T	C	7: 81,209,428 (GRCm39)	D138G	probably damaging	Het
Gda	C	T	19: 21,405,992 (GRCm39)	V5I	probably benign	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Greb1l	A	G	18: 10,532,922 (GRCm39)	M830V	probably benign	Het
Hnrnpul1	A	C	7: 25,426,258 (GRCm39)	V531G	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Igsf3	G	C	3: 101,365,410 (GRCm39)	R1127P	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Islr	T	C	9: 58,064,970 (GRCm39)	D179G	possibly damaging	Het
Jcad	G	T	18: 4,649,338 (GRCm39)	E70*	probably null	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Mbd5	T	C	2: 49,140,168 (GRCm39)	L44S	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Mgam	A	T	6: 40,691,566 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,109,552 (GRCm39)	I643N	probably damaging	Het
Mmrn1	A	T	6: 60,965,457 (GRCm39)	I1162L	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,861,600 (GRCm39)	C1354Y	probably damaging	Het
Nbeal2	A	T	9: 110,461,123 (GRCm39)	S1647T	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nedd9	A	T	13: 41,492,051 (GRCm39)		probably null	Het
Nr4a2	T	A	2: 57,002,105 (GRCm39)	H116L	probably benign	Het
Nwd2	A	G	5: 63,951,665 (GRCm39)	Y232C	probably damaging	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or2a20	T	A	6: 43,193,883 (GRCm39)	V12D	probably benign	Het
Or4a27	T	A	2: 88,559,056 (GRCm39)	M296L	possibly damaging	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or4g17	T	A	2: 111,209,990 (GRCm39)	L215H	probably damaging	Het
Or7e165	C	T	9: 19,694,596 (GRCm39)	H18Y	probably damaging	Het
Or8g24	A	G	9: 38,989,558 (GRCm39)	V161A	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Prdx6b	T	C	2: 80,123,404 (GRCm39)	L71P	probably damaging	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptdss1	T	C	13: 67,143,482 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,254,532 (GRCm39)	T138A	possibly damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rev3l	T	A	10: 39,699,393 (GRCm39)	S1297T	probably damaging	Het
Rgma	C	A	7: 73,067,564 (GRCm39)	T367K	probably damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rslcan18	A	T	13: 67,246,590 (GRCm39)	C217S	probably damaging	Het
Rtp3	A	G	9: 110,815,279 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,745,087 (GRCm39)	N3848K	probably damaging	Het
Sema6a	T	A	18: 47,381,779 (GRCm39)	T923S	probably benign	Het
Serpinb6d	A	T	13: 33,855,336 (GRCm39)	T337S	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sidt1	A	T	16: 44,090,221 (GRCm39)	Y369*	probably null	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a17	A	C	15: 81,211,527 (GRCm39)	L163W	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Sptbn1	T	C	11: 30,087,197 (GRCm39)	T1081A	possibly damaging	Het
Sptbn4	T	C	7: 27,116,431 (GRCm39)	D456G	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r118	T	A	6: 23,969,225 (GRCm39)	M279L	probably benign	Het
Tc2n	T	G	12: 101,660,832 (GRCm39)	Q133H	probably benign	Het
Tctn1	A	G	5: 122,399,468 (GRCm39)		probably null	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tex10	A	T	4: 48,468,984 (GRCm39)	S64T	probably benign	Het
Tex15	A	G	8: 34,072,525 (GRCm39)	T2691A	probably benign	Het
Tmem175	A	T	5: 108,790,016 (GRCm39)	T123S	probably damaging	Het
Tsc1	C	A	2: 28,562,419 (GRCm39)	S348R	probably damaging	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttll8	A	T	15: 88,801,293 (GRCm39)	I465N	probably damaging	Het
Ubr3	A	G	2: 69,768,714 (GRCm39)		probably benign	Het
Ugdh	A	T	5: 65,580,695 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,437,215 (GRCm39)	L3326S	probably damaging	Het
Vmn2r125	A	T	4: 156,702,276 (GRCm39)	I21F	probably damaging	Het
Vps9d1	G	A	8: 123,975,351 (GRCm39)		probably benign	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zbtb12	T	C	17: 35,114,475 (GRCm39)	S87P	probably damaging	Het
Zc3h12a	A	G	4: 125,014,686 (GRCm39)	M266T	probably damaging	Het
Zfp108	G	A	7: 23,959,837 (GRCm39)	A143T	probably benign	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
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
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'- AAGTAGCTCATGTTTGAACTGTTGG -3'
(R):5'- GAGGACAACTGGTCTATTGTCATAC -3'

Sequencing Primer
(F):5'- CCAGGTTTAAGAGCTTGCAC -3'
(R):5'- CGGATCTTGGCTTTAGCA -3'

Posted On

2015-10-21