Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Clasp2'

73782

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clasp2

Ensembl Gene

ENSMUSG00000033392

Gene Name

CLIP associating protein 2

Synonyms

1500004F14Rik, CLASP2gamma, CLASP2beta, CLASP2alpha, CLASP2, 8030404L10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

113741473-113919682 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113906127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1011 (D1011G)

Ref Sequence

ENSEMBL: ENSMUSP00000130201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111838] [ENSMUST00000163895] [ENSMUST00000166734] [ENSMUST00000213663] [ENSMUST00000214522] [ENSMUST00000215022]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111838
AA Change: D1010G

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: D1010G

Domain	Start	End	E-Value	Type
TOG	90	323	1.17e-8	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	459	472	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	562	572	N/A	INTRINSIC
low complexity region	614	634	N/A	INTRINSIC
TOG	640	877	2.03e-1	SMART
low complexity region	995	1009	N/A	INTRINSIC
TOG	1043	1274	1.49e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163895
AA Change: D1031G

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: D1031G

Domain	Start	End	E-Value	Type
TOG	90	323	1.17e-8	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	459	472	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	583	593	N/A	INTRINSIC
low complexity region	635	655	N/A	INTRINSIC
TOG	661	898	2.03e-1	SMART
low complexity region	1016	1030	N/A	INTRINSIC
TOG	1064	1295	1.49e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166734
AA Change: D1011G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: D1011G

Domain	Start	End	E-Value	Type
TOG	90	323	1.17e-8	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	459	472	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	562	572	N/A	INTRINSIC
low complexity region	614	634	N/A	INTRINSIC
TOG	640	878	7.51e-1	SMART
low complexity region	996	1010	N/A	INTRINSIC
TOG	1044	1275	1.49e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213663

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214522
AA Change: D1028G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215022

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	probably damaging	Het

Other mutations in Clasp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Clasp2	APN	9	113905992	splice site	probably benign
IGL00885:Clasp2	APN	9	113911416	missense	probably damaging	1.00
IGL01344:Clasp2	APN	9	113813292	splice site	probably null
IGL01567:Clasp2	APN	9	113880096	missense	probably damaging	1.00
IGL02238:Clasp2	APN	9	113880020	missense	probably damaging	1.00
IGL02299:Clasp2	APN	9	113879989	missense	probably damaging	1.00
IGL02323:Clasp2	APN	9	113868726	splice site	probably benign
IGL02635:Clasp2	APN	9	113908842	missense	probably damaging	0.98
IGL02645:Clasp2	APN	9	113890061	missense	probably damaging	1.00
IGL02976:Clasp2	APN	9	113906136	missense	probably damaging	1.00
IGL03190:Clasp2	APN	9	113844140	nonsense	probably null
IGL03219:Clasp2	APN	9	113848477	splice site	probably benign
PIT4810001:Clasp2	UTSW	9	113906067	missense	probably damaging	1.00
R0067:Clasp2	UTSW	9	113860141	splice site	probably benign
R0067:Clasp2	UTSW	9	113860141	splice site	probably benign
R0421:Clasp2	UTSW	9	113854302	missense	probably benign	0.02
R0432:Clasp2	UTSW	9	113909419	missense	probably benign	0.00
R0458:Clasp2	UTSW	9	113906224	splice site	probably null
R0865:Clasp2	UTSW	9	113911500	missense	possibly damaging	0.57
R0972:Clasp2	UTSW	9	113847705	missense	possibly damaging	0.58
R1037:Clasp2	UTSW	9	113896634	splice site	probably benign
R1925:Clasp2	UTSW	9	113906197	missense	possibly damaging	0.88
R2015:Clasp2	UTSW	9	113911500	missense	possibly damaging	0.57
R2066:Clasp2	UTSW	9	113906157	missense	possibly damaging	0.86
R2330:Clasp2	UTSW	9	113876304	missense	probably damaging	1.00
R2568:Clasp2	UTSW	9	113878764	missense	probably benign
R3011:Clasp2	UTSW	9	113901513	missense	probably damaging	1.00
R3879:Clasp2	UTSW	9	113889961	missense	probably damaging	0.98
R3915:Clasp2	UTSW	9	113908737	missense	probably damaging	0.99
R3928:Clasp2	UTSW	9	113906105	missense	probably benign	0.28
R4323:Clasp2	UTSW	9	113889959	missense	possibly damaging	0.91
R4571:Clasp2	UTSW	9	113847721	missense	probably damaging	1.00
R4975:Clasp2	UTSW	9	113903916	missense	probably damaging	1.00
R5445:Clasp2	UTSW	9	113903946	missense	probably damaging	1.00
R5564:Clasp2	UTSW	9	113812768	critical splice donor site	probably null
R5697:Clasp2	UTSW	9	113860122	missense	probably benign	0.01
R5780:Clasp2	UTSW	9	113850152	missense	probably damaging	0.99
R5787:Clasp2	UTSW	9	113862242	missense	probably damaging	1.00
R6011:Clasp2	UTSW	9	113876247	missense	probably benign	0.07
R6026:Clasp2	UTSW	9	113911578	missense	probably benign	0.13
R6090:Clasp2	UTSW	9	113852735	missense	probably benign	0.06
R6262:Clasp2	UTSW	9	113876352	critical splice donor site	probably null
R6427:Clasp2	UTSW	9	113892444	missense	probably damaging	1.00
R6464:Clasp2	UTSW	9	113773717	missense	probably damaging	1.00
R6586:Clasp2	UTSW	9	113813264	missense	probably damaging	1.00
R6628:Clasp2	UTSW	9	113896720	missense	probably damaging	1.00
R6745:Clasp2	UTSW	9	113875270	nonsense	probably null
R7032:Clasp2	UTSW	9	113854323	missense	probably benign	0.04
R7165:Clasp2	UTSW	9	113786399	splice site	probably null
R7221:Clasp2	UTSW	9	113852757	missense	probably damaging	0.99
R7336:Clasp2	UTSW	9	113876353	splice site	probably null
R7583:Clasp2	UTSW	9	113908687	missense	probably benign	0.02
R7774:Clasp2	UTSW	9	113848736	splice site	probably null
R7895:Clasp2	UTSW	9	113903948	missense	probably benign	0.03
R8084:Clasp2	UTSW	9	113847755	missense	probably benign	0.16
R8109:Clasp2	UTSW	9	113911520	missense	probably damaging	1.00
R8171:Clasp2	UTSW	9	113903906	missense	possibly damaging	0.88
R8230:Clasp2	UTSW	9	113892414	missense	possibly damaging	0.73
R8810:Clasp2	UTSW	9	113899581	missense	probably damaging	1.00
R8879:Clasp2	UTSW	9	113773705	missense	probably benign	0.39
R8888:Clasp2	UTSW	9	113903868	missense	possibly damaging	0.54
R8889:Clasp2	UTSW	9	113880183	missense	probably damaging	1.00
R8892:Clasp2	UTSW	9	113880183	missense	probably damaging	1.00
R8922:Clasp2	UTSW	9	113896660	nonsense	probably null
R9042:Clasp2	UTSW	9	113905997	missense	probably benign
R9195:Clasp2	UTSW	9	113841977	missense	probably benign	0.06
R9355:Clasp2	UTSW	9	113835241	missense	probably damaging	1.00
R9481:Clasp2	UTSW	9	113841601	missense	probably damaging	1.00
R9502:Clasp2	UTSW	9	113908798	missense	probably benign	0.01
R9523:Clasp2	UTSW	9	113876304	missense	probably damaging	0.98
R9525:Clasp2	UTSW	9	113911609	missense	probably damaging	1.00
R9653:Clasp2	UTSW	9	113841925	missense	probably benign	0.01
R9699:Clasp2	UTSW	9	113909546	critical splice donor site	probably null
R9738:Clasp2	UTSW	9	113761597	nonsense	probably null
R9775:Clasp2	UTSW	9	113896672	missense	probably benign
X0022:Clasp2	UTSW	9	113852672	missense	probably damaging	1.00
Z1177:Clasp2	UTSW	9	113770221	missense	probably damaging	1.00
Z1177:Clasp2	UTSW	9	113908795	missense	probably damaging	0.99

Posted On

2013-10-07