Mutagenetix > Incidental Mutations

Incidental Mutation 'R0632:Ccdc88a'

59729

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

038821-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0632 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

29373658-29510808 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 29482749 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040182] [ENSMUST00000140194] [ENSMUST00000155854]

Predicted Effect

probably benign
Transcript: ENSMUST00000040182

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740

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

probably benign
Transcript: ENSMUST00000140194

SMART Domains

Protein: ENSMUSP00000114942
Gene: ENSMUSG00000032740

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155854

SMART Domains

Protein: ENSMUSP00000115117
Gene: ENSMUSG00000032740

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: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc109b	T	C	3: 129,918,726	M167V	probably benign	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably 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
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
R5586:Ccdc88a	UTSW	11	29503484	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

Predicted Primers

PCR Primer
(F):5'- TGGCACCCTGAAGTCTGCTCAC -3'
(R):5'- CGTATACTGGGCTGGGAAGATGGC -3'

Sequencing Primer
(F):5'- CTTGAAGTGGAACATAAAGACCTTG -3'
(R):5'- Aacacacacacacacacacac -3'

Posted On

2013-07-11