Mutagenetix > Incidental Mutation

Incidental Mutation 'R0946:Ccdc88a'

82115

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

039085-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29323658-29460808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29406509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 414 (T414A)

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: T414A

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

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: T414A

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

noncoding transcript
Transcript: ENSMUST00000137227

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	A	G	14: 34,234,099 (GRCm39)	M64T	unknown	Het
Adamts15	C	T	9: 30,813,493 (GRCm39)	G891R	probably damaging	Het
Adck5	G	A	15: 76,477,486 (GRCm39)	V107I	possibly damaging	Het
Aoc3	G	A	11: 101,223,131 (GRCm39)	V456M	possibly damaging	Het
Apbb1	A	T	7: 105,223,062 (GRCm39)	L183Q	probably benign	Het
Camsap3	A	G	8: 3,654,442 (GRCm39)	H693R	probably benign	Het
Cdh17	T	C	4: 11,795,581 (GRCm39)	V387A	probably benign	Het
Coasy	G	T	11: 100,976,696 (GRCm39)	V489F	probably damaging	Het
Ercc6	A	T	14: 32,274,578 (GRCm39)	M574L	probably benign	Het
Esrrb	T	C	12: 86,552,598 (GRCm39)	L180P	probably damaging	Het
Fam83b	A	T	9: 76,398,679 (GRCm39)	V808D	probably damaging	Het
Fat3	C	T	9: 15,909,100 (GRCm39)	V2301I	possibly damaging	Het
Ftdc1	C	A	16: 58,435,075 (GRCm39)	R83S	probably damaging	Het
Hyal4	T	A	6: 24,755,912 (GRCm39)	Y43*	probably null	Het
Hydin	C	A	8: 111,257,685 (GRCm39)	L2372M	probably benign	Het
Lrrc4c	T	C	2: 97,459,809 (GRCm39)	V145A	probably benign	Het
Lypd10	A	G	7: 24,413,167 (GRCm39)	K162R	probably benign	Het
Muc21	A	C	17: 35,929,105 (GRCm39)	S1581A	probably benign	Het
Myh4	A	G	11: 67,142,577 (GRCm39)	I913V	possibly damaging	Het
Nat10	C	T	2: 103,561,719 (GRCm39)	G654D	probably damaging	Het
Nbn	A	T	4: 15,970,719 (GRCm39)		probably null	Het
Nup50l	A	T	6: 96,142,677 (GRCm39)	N122K	possibly damaging	Het
Oas3	T	C	5: 120,907,128 (GRCm39)	Y503C	unknown	Het
Or11g7	C	A	14: 50,691,130 (GRCm39)	T207K	probably benign	Het
Pappa	G	T	4: 65,233,029 (GRCm39)		probably null	Het
Pfas	A	G	11: 68,884,121 (GRCm39)		probably null	Het
Pfas	G	T	11: 68,881,573 (GRCm39)		probably null	Het
Pign	A	T	1: 105,519,422 (GRCm39)	M500K	probably benign	Het
Pkhd1	T	C	1: 20,269,605 (GRCm39)	K3313R	probably benign	Het
Ptk2b	A	G	14: 66,396,047 (GRCm39)	V807A	probably benign	Het
Ptpdc1	C	T	13: 48,740,286 (GRCm39)	E382K	probably damaging	Het
Rfpl4b	A	T	10: 38,696,833 (GRCm39)	I256N	probably benign	Het
Skap1	C	G	11: 96,432,295 (GRCm39)	S88*	probably null	Het
Slc4a2	T	C	5: 24,640,884 (GRCm39)	S742P	probably damaging	Het
Supv3l1	T	C	10: 62,265,599 (GRCm39)	D647G	probably damaging	Het
Tmem184c	A	C	8: 78,331,386 (GRCm39)	V121G	probably damaging	Het
Tonsl	T	C	15: 76,507,421 (GRCm39)	I118V	probably benign	Het
Top1	T	A	2: 160,554,588 (GRCm39)	Y446*	probably null	Het
Trim37	A	G	11: 87,037,781 (GRCm39)	R172G	probably damaging	Het
Vgll4	C	A	6: 114,867,768 (GRCm39)		probably null	Het
Vgll4	T	A	6: 114,867,769 (GRCm39)		probably null	Het
Vmn1r5	T	G	6: 56,963,150 (GRCm39)	I275S	possibly damaging	Het
Vwde	A	T	6: 13,187,874 (GRCm39)	H584Q	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp282	T	A	6: 47,856,943 (GRCm39)	W59R	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zswim2	T	A	2: 83,754,103 (GRCm39)	T186S	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
R1192:Ccdc88a	UTSW	11	29,454,049 (GRCm39)	missense	possibly damaging	0.45
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'- CCCTATAATGACAAGGATGGCTAGAGTCT -3'
(R):5'- AACCCTTCTTCCTGAACAAGTAAAATTGAGT -3'

Sequencing Primer
(F):5'- aggagaaggtaaaagaggagtaaag -3'
(R):5'- GGAGACAACTGTTTCTCTTGTG -3'

Posted On

2013-11-08