Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Ccdc88a'

710274

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29373658-29510808 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29455422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 365 (D365G)

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: D365G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: D365G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	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
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
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
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'- CCCTGTGACCCGCTTAAATG -3'
(R):5'- GGGAATTTAGCTGAATCCTAGAATG -3'

Sequencing Primer
(F):5'- CAATTCCCTGTGAAGTTATAGTGG -3'
(R):5'- GCTGAATCCTAGAATGTGAATCAC -3'

Posted On

2022-04-18