Mutagenetix > Incidental Mutation

Incidental Mutation 'R5288:Ccdc88a'

424518

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

042842-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29323658-29460808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29448416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1465 (N1465K)

Ref Sequence

ENSEMBL: ENSMUSP00000048978 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040182
AA Change: N1465K

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: N1465K

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

unknown
Transcript: ENSMUST00000123561
AA Change: N445K

SMART Domains

Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: N445K

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
AA Change: N193K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114942
Gene: ENSMUSG00000032740
AA Change: N193K

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

noncoding transcript
Transcript: ENSMUST00000144450

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,293,168 (GRCm39)	Y7N	probably damaging	Het
Adcy1	A	C	11: 7,111,351 (GRCm39)	I881L	probably benign	Het
Aftph	T	C	11: 20,676,994 (GRCm39)	D205G	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cep70	T	A	9: 99,163,128 (GRCm39)	L325Q	probably damaging	Het
Cfap46	A	G	7: 139,193,423 (GRCm39)		probably null	Het
Cftr	C	T	6: 18,226,128 (GRCm39)	Q359*	probably null	Het
Chrne	A	T	11: 70,505,913 (GRCm39)	N457K	possibly damaging	Het
Cntn2	A	G	1: 132,451,415 (GRCm39)	I438T	probably benign	Het
Cntn4	T	C	6: 106,158,765 (GRCm39)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,867,189 (GRCm39)	M87I	possibly damaging	Het
Cyfip1	A	T	7: 55,574,883 (GRCm39)	M1045L	possibly damaging	Het
Cyp2c29	C	T	19: 39,318,816 (GRCm39)	P432L	probably damaging	Het
Dcaf11	T	A	14: 55,800,833 (GRCm39)	D96E	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnhd1	G	A	7: 105,363,644 (GRCm39)	E4069K	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,721 (GRCm39)	N330I	probably damaging	Het
Dpy19l4	G	T	4: 11,304,014 (GRCm39)	A132D	probably damaging	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp11	T	C	6: 85,924,587 (GRCm39)	*322W	probably null	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Eml3	G	A	19: 8,916,638 (GRCm39)	G720S	probably damaging	Het
F11	A	G	8: 45,699,833 (GRCm39)	S418P	probably damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fat2	G	A	11: 55,158,482 (GRCm39)	T3412I	probably benign	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Gm10134	T	A	2: 28,396,372 (GRCm39)		probably benign	Het
Gm11787	T	C	4: 3,511,795 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hephl1	T	C	9: 14,988,150 (GRCm39)	T653A	possibly damaging	Het
Herc3	T	A	6: 58,851,263 (GRCm39)	M504K	probably damaging	Het
Hmcn2	A	G	2: 31,350,333 (GRCm39)	T5077A	probably benign	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Ighe	T	C	12: 113,235,092 (GRCm39)	H356R	probably benign	Het
Ighv10-3	T	A	12: 114,487,125 (GRCm39)	M99L	probably benign	Het
Izumo4	C	A	10: 80,538,639 (GRCm39)	C30*	probably null	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kif24	T	C	4: 41,395,373 (GRCm39)	E500G	probably benign	Het
Kng1	A	T	16: 22,897,842 (GRCm39)	D414V	probably damaging	Het
Loxhd1	A	C	18: 77,451,308 (GRCm39)	D410A	probably damaging	Het
Ltn1	T	C	16: 87,212,899 (GRCm39)	K554R	possibly damaging	Het
Ly75	A	G	2: 60,133,985 (GRCm39)	C1547R	probably damaging	Het
Ms4a6d	A	T	19: 11,564,500 (GRCm39)	S124T	possibly damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Mtfr2	A	G	10: 20,233,448 (GRCm39)	D339G	probably damaging	Het
Myh10	T	A	11: 68,692,434 (GRCm39)	L1369Q	probably damaging	Het
Myh11	A	T	16: 14,025,872 (GRCm39)	V1366D	possibly damaging	Het
Nadsyn1	A	G	7: 143,357,023 (GRCm39)	V491A	possibly damaging	Het
Nav3	T	C	10: 109,688,966 (GRCm39)	N437S	probably benign	Het
Ncf1	A	G	5: 134,250,659 (GRCm39)	L373P	probably damaging	Het
Neb	A	T	2: 52,079,873 (GRCm39)	I85N	probably damaging	Het
Nktr	A	G	9: 121,577,659 (GRCm39)	K576E	probably benign	Het
Nmur2	T	A	11: 55,931,040 (GRCm39)	I224F	probably damaging	Het
Oas3	A	G	5: 120,895,055 (GRCm39)	F978S	probably damaging	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or10ak9	T	C	4: 118,726,772 (GRCm39)	S264P	probably damaging	Het
Or2r3	T	A	6: 42,448,186 (GRCm39)	I309F	probably benign	Het
Or2t48	A	T	11: 58,420,308 (GRCm39)	M168K	probably damaging	Het
Or5p60	T	C	7: 107,724,375 (GRCm39)	T32A	probably benign	Het
Pcyox1	A	T	6: 86,369,336 (GRCm39)		probably null	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pitpnm1	T	C	19: 4,153,435 (GRCm39)	F197S	probably damaging	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Pomt1	C	G	2: 32,134,311 (GRCm39)	Y277*	probably null	Het
Pou4f2	A	G	8: 79,162,958 (GRCm39)	Y26H	unknown	Het
Pphln1-ps1	T	G	16: 13,495,622 (GRCm39)	N240K	probably benign	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Pramel34	C	T	5: 93,785,607 (GRCm39)	M224I	possibly damaging	Het
Prdx2	T	A	8: 85,698,302 (GRCm39)	Y164*	probably null	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Rab4a	A	T	8: 124,554,113 (GRCm39)	I16L	probably benign	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Rimbp2	G	A	5: 128,865,656 (GRCm39)	T557M	probably benign	Het
Rmi1	G	A	13: 58,557,280 (GRCm39)	G510R	probably damaging	Het
Sdad1	A	G	5: 92,434,684 (GRCm39)	*687Q	probably null	Het
Sema6d	T	C	2: 124,506,166 (GRCm39)	L720P	probably damaging	Het
Setx	T	G	2: 29,024,045 (GRCm39)		probably null	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Strn3	C	G	12: 51,694,803 (GRCm39)	R320P	probably damaging	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Syne2	T	A	12: 76,146,112 (GRCm39)	S6377T	possibly damaging	Het
Tas2r123	A	T	6: 132,824,190 (GRCm39)	H29L	probably benign	Het
Tbl3	C	T	17: 24,924,944 (GRCm39)	V52M	possibly damaging	Het
Tbp	A	G	17: 15,727,609 (GRCm39)	I145V	probably benign	Het
Tcf20	A	T	15: 82,739,910 (GRCm39)	S514T	possibly damaging	Het
Tgm4	A	G	9: 122,885,559 (GRCm39)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,060,081 (GRCm39)	V258M	probably damaging	Het
Tln1	C	T	4: 43,540,661 (GRCm39)	V1447I	probably benign	Het
Tnfrsf11b	C	T	15: 54,141,622 (GRCm39)	A8T	probably benign	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Tsen15	C	T	1: 152,259,131 (GRCm39)	V76I	probably damaging	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Ucn3	A	T	13: 3,991,474 (GRCm39)	F59L	probably benign	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vmn2r94	A	C	17: 18,464,728 (GRCm39)	Y521D	probably damaging	Het
Vps45	T	C	3: 95,965,086 (GRCm39)	M1V	probably null	Het
Vta1	C	A	10: 14,581,143 (GRCm39)	L21F	probably damaging	Het
Zdhhc21	C	T	4: 82,765,929 (GRCm39)	G2D	probably damaging	Het
Zfp169	A	T	13: 48,643,751 (GRCm39)	C459S	possibly damaging	Het
Zfp90	C	T	8: 107,152,000 (GRCm39)	T571M	probably damaging	Het
Zswim8	A	T	14: 20,768,939 (GRCm39)	N1119I	possibly damaging	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
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
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'- GGCCTCATTTCATTCAGCTG -3'
(R):5'- CCAATAGTTACACAGCACAGTG -3'

Sequencing Primer
(F):5'- TCAGCTGAATGCATGTCATTAC -3'
(R):5'- CAACTGCTTGGATCGGAAGGC -3'

Posted On

2016-08-04