Mutagenetix > Incidental Mutations

Incidental Mutation 'R7116:Ccdc88a'

551786

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29373658-29510808 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29504051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1738 (A1738V)

Ref Sequence

ENSEMBL: ENSMUSP00000048978 (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: A1738V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: A1738V

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

SMART Domains

Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: A718V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
R5586:Ccdc88a	UTSW	11	29503484	missense	probably benign	0.00
R6660:Ccdc88a	UTSW	11	29482663	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

Predicted Primers

PCR Primer
(F):5'- AAGTCCTCGAGTCAAGAGAATC -3'
(R):5'- GTGATGAATCGACTGACACGG -3'

Sequencing Primer
(F):5'- GTCCTCGAGTCAAGAGAATCTTTTAG -3'
(R):5'- AAAATCATGGATGCTCGTCCTTCG -3'

Posted On

2019-05-15