Mutagenetix > Incidental Mutation

Incidental Mutation 'R3620:Ccdc88a'

268605

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29323658-29460808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29380227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 201 (I201T)

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: I201T

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: I201T

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

Meta Mutation Damage Score

0.1592

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,226,864 (GRCm39)	M473T	probably benign	Het
Asxl1	C	A	2: 153,199,075 (GRCm39)	R76S	probably damaging	Het
Bhlhe41	C	A	6: 145,808,733 (GRCm39)	G360C	possibly damaging	Het
Ccng1	T	C	11: 40,642,992 (GRCm39)	T152A	probably benign	Het
Cep192	T	C	18: 67,962,928 (GRCm39)	V648A	probably benign	Het
Cldn16	T	A	16: 26,296,302 (GRCm39)	F93I	possibly damaging	Het
Csmd1	T	C	8: 16,042,684 (GRCm39)	S2350G	probably benign	Het
Enpp6	T	C	8: 47,518,540 (GRCm39)	W223R	probably benign	Het
Fah	T	C	7: 84,238,159 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,147,521 (GRCm39)	V3907D	probably damaging	Het
Fsip2	C	A	2: 82,810,602 (GRCm39)	T2307K	probably benign	Het
Gcg	T	C	2: 62,307,279 (GRCm39)	E94G	probably damaging	Het
Gramd1b	C	A	9: 40,366,842 (GRCm39)	R42L	probably benign	Het
H2bc9	C	A	13: 23,727,324 (GRCm39)	V67L	probably benign	Het
Hdc	T	A	2: 126,458,187 (GRCm39)	Y45F	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf10	T	G	3: 59,243,752 (GRCm39)	D194A	probably damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lrpprc	A	T	17: 85,077,452 (GRCm39)	C412S	probably benign	Het
Mga	T	A	2: 119,747,149 (GRCm39)	D433E	probably damaging	Het
Myo15a	A	T	11: 60,369,468 (GRCm39)	S743C	possibly damaging	Het
Myo15b	T	G	11: 115,762,013 (GRCm39)	L1176R	possibly damaging	Het
Ndor1	T	C	2: 25,138,047 (GRCm39)	Q526R	probably damaging	Het
Nipbl	A	G	15: 8,362,508 (GRCm39)	I1429T	probably damaging	Het
Or1d2	T	A	11: 74,256,050 (GRCm39)	L185Q	probably damaging	Het
Or4c126	T	C	2: 89,824,196 (GRCm39)	I153T	probably damaging	Het
Or4k38	T	A	2: 111,165,689 (GRCm39)	I245L	probably benign	Het
Otogl	T	C	10: 107,710,232 (GRCm39)	D619G	probably damaging	Het
Pa2g4	C	G	10: 128,399,464 (GRCm39)	E67Q	probably damaging	Het
Pnpla1	C	T	17: 29,096,362 (GRCm39)	A147V	probably damaging	Het
Prdm13	A	G	4: 21,683,532 (GRCm39)	Y143H	unknown	Het
Rad23a	A	G	8: 85,567,193 (GRCm39)	M1T	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Slc10a2	A	T	8: 5,154,909 (GRCm39)	I92N	probably damaging	Het
Slc24a4	T	C	12: 102,185,222 (GRCm39)	F111L	probably damaging	Het
Sox11	T	C	12: 27,391,735 (GRCm39)	T225A	probably benign	Het
Thbs1	T	C	2: 117,951,640 (GRCm39)	V820A	probably benign	Het
Unc45a	G	T	7: 79,983,799 (GRCm39)	N332K	possibly damaging	Het
Vmn1r159	A	C	7: 22,542,258 (GRCm39)	I258S	possibly damaging	Het
Wdr31	A	T	4: 62,375,701 (GRCm39)	F251L	possibly damaging	Het
Wdr43	C	T	17: 71,957,601 (GRCm39)	T530M	probably benign	Het
Zfp445	C	T	9: 122,681,833 (GRCm39)	A703T	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
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
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'- GGGTGTCATCATTAACTTCAAATCTCC -3'
(R):5'- CCTCTTCCAAAGAAACAGGGTATC -3'

Sequencing Primer
(F):5'- TTCTGCCTTTGTAGTTAATTTTGTTC -3'
(R):5'- GAGACAGTATTTCTCTGTGCAGCC -3'

Posted On

2015-02-19