Mutagenetix > Incidental Mutation

Incidental Mutation 'R1192:Ccdc88a'

100897

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

039264-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29323658-29460808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29454049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 717 (D717E)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040182
AA Change: D1737E

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

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: D1737E

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

possibly damaging
Transcript: ENSMUST00000123561
AA Change: D717E

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: D717E

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

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (32/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	T	A	13: 74,362,522 (GRCm39)	M326L	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankmy1	T	C	1: 92,811,616 (GRCm39)	T591A	probably damaging	Het
Anks4b	A	T	7: 119,773,289 (GRCm39)	I50L	probably benign	Het
Arhgef3	C	A	14: 27,101,663 (GRCm39)	T133N	probably damaging	Het
Arrdc1	T	C	2: 24,816,152 (GRCm39)	I284V	probably benign	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Cdh22	A	T	2: 164,977,203 (GRCm39)	F439I	probably damaging	Het
Creld1	G	T	6: 113,466,440 (GRCm39)	C169F	probably damaging	Het
Ctsq	T	A	13: 61,186,859 (GRCm39)	N78I	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Eri2	G	T	7: 119,391,540 (GRCm39)	D41E	probably damaging	Het
Exosc9	C	T	3: 36,606,904 (GRCm39)		probably benign	Het
Galnt14	C	T	17: 73,852,133 (GRCm39)		probably benign	Het
Gen1	C	T	12: 11,305,219 (GRCm39)	G192D	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ints14	T	C	9: 64,874,045 (GRCm39)	V99A	possibly damaging	Het
Iqsec1	G	A	6: 90,648,958 (GRCm39)		probably benign	Het
Jarid2	G	T	13: 45,060,021 (GRCm39)	R713L	probably damaging	Het
Nans	T	C	4: 46,502,430 (GRCm39)		probably benign	Het
Nkiras2	T	C	11: 100,516,806 (GRCm39)		probably null	Het
Obscn	A	T	11: 58,958,025 (GRCm39)	D3558E	probably benign	Het
Or6c66	C	T	10: 129,461,906 (GRCm39)	S8N	probably benign	Het
Palb2	G	A	7: 121,727,432 (GRCm39)	T146M	probably benign	Het
Pcgf3	T	C	5: 108,634,054 (GRCm39)	V104A	probably benign	Het
Polr3e	A	G	7: 120,532,531 (GRCm39)	D189G	probably benign	Het
Rfc1	T	C	5: 65,451,254 (GRCm39)	K278R	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Shcbp1l	T	A	1: 153,301,253 (GRCm39)	I95N	possibly damaging	Het
Shox2	G	A	3: 66,881,243 (GRCm39)	Q246*	probably null	Het
Slc16a4	G	C	3: 107,206,189 (GRCm39)	E86D	probably benign	Het
Tubgcp2	A	G	7: 139,609,751 (GRCm39)	V202A	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
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
R4707:Ccdc88a	UTSW	11	29,397,956 (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'- AGTCGAGCCCATCACAAGATGAAAG -3'
(R):5'- GCAGTAGAGATCACACTGCTTGCAC -3'

Sequencing Primer
(F):5'- CCCAGGAAGTGAAGTTGTTACTC -3'
(R):5'- CACTGCTTGCACGAGGTAAAG -3'

Posted On

2014-01-15