Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Ccdc88a'

438736

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88a

Ensembl Gene

ENSMUSG00000032740

Gene Name

coiled coil domain containing 88A

Synonyms

Girdin, GIV, A430106J12Rik, D130005J21Rik, HkRP1, C130096N06Rik, C330012F17Rik

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29373658-29510808 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29503484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 344 (I344V)

Ref Sequence

ENSEMBL: ENSMUSP00000114942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040182] [ENSMUST00000140194]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040182
AA Change: I1616V

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

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: I1616V

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

unknown
Transcript: ENSMUST00000123561
AA Change: I596V

SMART Domains

Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: I596V

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 benign
Transcript: ENSMUST00000140194
AA Change: I344V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114942
Gene: ENSMUSG00000032740
AA Change: I344V

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

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	Het

Other mutations in Ccdc88a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Ccdc88a	APN	11	29499341	missense	probably benign	0.24
IGL00577:Ccdc88a	APN	11	29424772	missense	probably damaging	1.00
IGL00766:Ccdc88a	APN	11	29501046	missense	probably damaging	0.99
IGL01384:Ccdc88a	APN	11	29503915	missense	probably damaging	0.99
IGL01541:Ccdc88a	APN	11	29400283	missense	probably benign
IGL01647:Ccdc88a	APN	11	29504321	unclassified	probably benign
IGL02648:Ccdc88a	APN	11	29501051	missense	probably benign	0.28
IGL02885:Ccdc88a	APN	11	29448050	missense	probably damaging	1.00
IGL03117:Ccdc88a	APN	11	29374559	missense	probably damaging	1.00
IGL03196:Ccdc88a	APN	11	29482340	missense	possibly damaging	0.56
trailor	UTSW	11	29494099	splice site	probably null
R0011:Ccdc88a	UTSW	11	29374364	missense	probably damaging	1.00
R0011:Ccdc88a	UTSW	11	29374364	missense	probably damaging	1.00
R0083:Ccdc88a	UTSW	11	29503463	missense	probably damaging	0.99
R0108:Ccdc88a	UTSW	11	29503463	missense	probably damaging	0.99
R0326:Ccdc88a	UTSW	11	29461021	missense	probably benign	0.01
R0565:Ccdc88a	UTSW	11	29461042	unclassified	probably benign
R0631:Ccdc88a	UTSW	11	29493752	missense	probably damaging	0.98
R0632:Ccdc88a	UTSW	11	29482749	unclassified	probably benign
R0762:Ccdc88a	UTSW	11	29463112	unclassified	probably benign
R0838:Ccdc88a	UTSW	11	29400285	missense	probably damaging	1.00
R0946:Ccdc88a	UTSW	11	29456509	missense	probably benign
R1192:Ccdc88a	UTSW	11	29504049	missense	possibly damaging	0.45
R1500:Ccdc88a	UTSW	11	29482713	missense	probably benign	0.00
R1701:Ccdc88a	UTSW	11	29477427	missense	possibly damaging	0.59
R1826:Ccdc88a	UTSW	11	29489637	missense	possibly damaging	0.58
R1902:Ccdc88a	UTSW	11	29461788	missense	probably benign	0.07
R1903:Ccdc88a	UTSW	11	29461788	missense	probably benign	0.07
R2021:Ccdc88a	UTSW	11	29503480	missense	probably damaging	1.00
R2023:Ccdc88a	UTSW	11	29463546	nonsense	probably null
R2284:Ccdc88a	UTSW	11	29494099	splice site	probably null
R3236:Ccdc88a	UTSW	11	29447995	missense	possibly damaging	0.51
R3409:Ccdc88a	UTSW	11	29486006	missense	probably damaging	1.00
R3410:Ccdc88a	UTSW	11	29486006	missense	probably damaging	1.00
R3411:Ccdc88a	UTSW	11	29486006	missense	probably damaging	1.00
R3430:Ccdc88a	UTSW	11	29448033	missense	probably damaging	0.98
R3620:Ccdc88a	UTSW	11	29430227	missense	probably benign	0.16
R4204:Ccdc88a	UTSW	11	29463399	missense	probably damaging	1.00
R4515:Ccdc88a	UTSW	11	29482651	missense	probably benign	0.01
R4518:Ccdc88a	UTSW	11	29482651	missense	probably benign	0.01
R4519:Ccdc88a	UTSW	11	29482651	missense	probably benign	0.01
R4693:Ccdc88a	UTSW	11	29482241	missense	probably damaging	1.00
R4705:Ccdc88a	UTSW	11	29422586	missense	probably benign
R4707:Ccdc88a	UTSW	11	29447956	missense	probably benign
R4732:Ccdc88a	UTSW	11	29485906	missense	probably benign	0.02
R4733:Ccdc88a	UTSW	11	29485906	missense	probably benign	0.02
R4734:Ccdc88a	UTSW	11	29482720	missense	probably benign
R4749:Ccdc88a	UTSW	11	29482720	missense	probably benign
R4817:Ccdc88a	UTSW	11	29460907	missense	probably benign	0.15
R4828:Ccdc88a	UTSW	11	29463210	missense	probably damaging	1.00
R4979:Ccdc88a	UTSW	11	29482133	nonsense	probably null
R5288:Ccdc88a	UTSW	11	29498416	missense	possibly damaging	0.77
R5373:Ccdc88a	UTSW	11	29463409	missense	possibly damaging	0.92
R5374:Ccdc88a	UTSW	11	29463409	missense	possibly damaging	0.92
R5401:Ccdc88a	UTSW	11	29463279	missense	probably benign	0.00
R6660:Ccdc88a	UTSW	11	29482663	missense	probably benign	0.01
R7116:Ccdc88a	UTSW	11	29504051	missense	probably benign	0.01
R7353:Ccdc88a	UTSW	11	29463368	missense	probably benign	0.00
R7538:Ccdc88a	UTSW	11	29463370	missense	probably benign	0.00
R7663:Ccdc88a	UTSW	11	29498614	critical splice donor site	probably null
R7769:Ccdc88a	UTSW	11	29482381	missense	probably damaging	1.00
R7798:Ccdc88a	UTSW	11	29477348	missense	probably benign	0.15
R7810:Ccdc88a	UTSW	11	29485964	missense	probably damaging	1.00
R7826:Ccdc88a	UTSW	11	29503563	missense	probably benign	0.02
R7956:Ccdc88a	UTSW	11	29463892	missense	probably damaging	1.00
R8260:Ccdc88a	UTSW	11	29493934	missense	probably benign	0.01
R8402:Ccdc88a	UTSW	11	29463879	missense	probably damaging	1.00
R8409:Ccdc88a	UTSW	11	29503544	missense	probably benign
R8555:Ccdc88a	UTSW	11	29430169	missense	probably benign
R8676:Ccdc88a	UTSW	11	29460860	missense	probably benign	0.05
R8846:Ccdc88a	UTSW	11	29464185	missense	probably damaging	1.00
R8963:Ccdc88a	UTSW	11	29498416	missense	possibly damaging	0.77
R8972:Ccdc88a	UTSW	11	29485888	missense	probably benign	0.07
R9353:Ccdc88a	UTSW	11	29477433	missense	probably damaging	1.00
R9362:Ccdc88a	UTSW	11	29503922	missense	probably null	0.55
R9385:Ccdc88a	UTSW	11	29455422	missense	probably benign	0.24
R9509:Ccdc88a	UTSW	11	29464143	missense	probably benign	0.27
R9610:Ccdc88a	UTSW	11	29477316	missense	possibly damaging	0.76
R9611:Ccdc88a	UTSW	11	29477316	missense	possibly damaging	0.76
R9664:Ccdc88a	UTSW	11	29455484	missense	probably benign	0.08
R9720:Ccdc88a	UTSW	11	29463813	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGAGGAACAAGTAACATAGCTTAC -3'
(R):5'- CTAACCTGTATTGAGGTAAGCTTG -3'

Sequencing Primer
(F):5'- GGAACAAGTAACATAGCTTACCTAAG -3'
(R):5'- GTTGCTTTCTTCCAAAAACTGTTG -3'

Posted On

2016-10-26