Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Efcab6'

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283067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4931407K02Rik, 4932408N08Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

83866712-84065379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83896100 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1044 (A1044V)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000156187]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144169

Predicted Effect

probably damaging
Transcript: ENSMUST00000156187
AA Change: A1044V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: A1044V

Domain	Start	End	E-Value	Type
EFh	100	128	9.33e-2	SMART
low complexity region	162	172	N/A	INTRINSIC
EFh	201	229	5e-2	SMART
EFh	325	353	1.59e1	SMART
EFh	532	560	1.17e2	SMART
low complexity region	598	607	N/A	INTRINSIC
EFh	659	687	8.82e1	SMART
EFh	767	795	3.71e0	SMART
low complexity region	802	816	N/A	INTRINSIC
EFh	909	937	2.46e-1	SMART
low complexity region	962	977	N/A	INTRINSIC
low complexity region	1015	1027	N/A	INTRINSIC
low complexity region	1055	1070	N/A	INTRINSIC
EFh	1090	1118	2.09e0	SMART
low complexity region	1131	1136	N/A	INTRINSIC
EFh	1197	1225	2e1	SMART
Blast:EFh	1233	1261	1e-9	BLAST
EFh	1342	1370	3.48e-1	SMART
EFh	1453	1481	2.49e0	SMART
Blast:EFh	1489	1516	6e-9	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Efcab6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Efcab6	APN	15	84018642	missense	probably benign	0.09
IGL00946:Efcab6	APN	15	84018696	missense	probably benign	0.19
IGL01063:Efcab6	APN	15	84054512	start codon destroyed	probably null	0.53
IGL01330:Efcab6	APN	15	84044300	missense	probably benign	0.26
IGL01372:Efcab6	APN	15	84044304	missense	possibly damaging	0.62
IGL01644:Efcab6	APN	15	84033072	missense	probably damaging	0.97
IGL02449:Efcab6	APN	15	84010033	missense	probably benign	0.00
IGL02514:Efcab6	APN	15	84032942	missense	possibly damaging	0.91
IGL02514:Efcab6	APN	15	83871311	splice site	probably benign
IGL02538:Efcab6	APN	15	84054521	start gained	probably benign
IGL02623:Efcab6	APN	15	83879448	missense	probably damaging	0.99
IGL02735:Efcab6	APN	15	83899697	missense	probably damaging	1.00
IGL03139:Efcab6	APN	15	83952221	missense	probably benign	0.04
IGL03274:Efcab6	APN	15	83868249	missense	probably damaging	1.00
IGL03400:Efcab6	APN	15	83867045	utr 3 prime	probably benign
P0045:Efcab6	UTSW	15	83918199	missense	probably damaging	1.00
PIT4445001:Efcab6	UTSW	15	83904267	missense	probably benign	0.03
PIT4486001:Efcab6	UTSW	15	83973313	missense	probably benign	0.00
PIT4618001:Efcab6	UTSW	15	83983446	missense	probably benign	0.25
R0520:Efcab6	UTSW	15	83950046	missense	probably benign	0.00
R0575:Efcab6	UTSW	15	83967700	missense	probably benign	0.28
R0648:Efcab6	UTSW	15	83933064	splice site	probably benign
R0894:Efcab6	UTSW	15	83918292	missense	probably benign	0.00
R0975:Efcab6	UTSW	15	83973331	missense	probably benign	0.00
R1238:Efcab6	UTSW	15	83933137	missense	probably benign	0.06
R1625:Efcab6	UTSW	15	83947638	missense	probably benign
R1651:Efcab6	UTSW	15	83870993	missense	possibly damaging	0.50
R1691:Efcab6	UTSW	15	83933206	missense	probably benign	0.01
R1844:Efcab6	UTSW	15	83967621	missense	possibly damaging	0.47
R1929:Efcab6	UTSW	15	83892962	splice site	probably benign
R1983:Efcab6	UTSW	15	83892962	splice site	probably benign
R2100:Efcab6	UTSW	15	83892967	splice site	probably null
R2271:Efcab6	UTSW	15	83946999	missense	probably benign
R2329:Efcab6	UTSW	15	83950048	missense	possibly damaging	0.90
R3618:Efcab6	UTSW	15	83950069	missense	probably benign	0.00
R3687:Efcab6	UTSW	15	83871278	nonsense	probably null
R3688:Efcab6	UTSW	15	83871278	nonsense	probably null
R4212:Efcab6	UTSW	15	83892863	missense	probably damaging	1.00
R4223:Efcab6	UTSW	15	83867108	missense	probably damaging	1.00
R4459:Efcab6	UTSW	15	83904289	missense	probably damaging	1.00
R4578:Efcab6	UTSW	15	83933168	missense	probably benign	0.00
R4600:Efcab6	UTSW	15	83946925	missense	probably benign
R5174:Efcab6	UTSW	15	84054486	missense	probably benign
R5260:Efcab6	UTSW	15	83945123	missense	probably benign	0.01
R5576:Efcab6	UTSW	15	83950000	missense	probably benign	0.05
R5718:Efcab6	UTSW	15	83904238	missense	probably damaging	1.00
R5797:Efcab6	UTSW	15	83924277	missense	possibly damaging	0.82
R6027:Efcab6	UTSW	15	83967721	missense	probably benign
R6110:Efcab6	UTSW	15	83879634	missense	possibly damaging	0.69
R6132:Efcab6	UTSW	15	84032972	missense	probably damaging	1.00
R6166:Efcab6	UTSW	15	83896115	missense	probably benign	0.01
R6228:Efcab6	UTSW	15	83967624	missense	possibly damaging	0.67
R6341:Efcab6	UTSW	15	83935938	missense	possibly damaging	0.65
R6445:Efcab6	UTSW	15	83868357	missense	probably damaging	1.00
R6494:Efcab6	UTSW	15	84044322	critical splice acceptor site	probably null
R6611:Efcab6	UTSW	15	83892835	missense	possibly damaging	0.68
R7392:Efcab6	UTSW	15	83988951	missense	probably benign	0.39
R7599:Efcab6	UTSW	15	83870988	missense	probably damaging	1.00
R7711:Efcab6	UTSW	15	83949924	missense	probably benign	0.00
R7873:Efcab6	UTSW	15	84018625	critical splice donor site	probably null
R8031:Efcab6	UTSW	15	83983498	missense	possibly damaging	0.90
R8075:Efcab6	UTSW	15	83967623	missense	probably damaging	0.99
R8209:Efcab6	UTSW	15	83904255	missense	probably benign	0.04
R8226:Efcab6	UTSW	15	83904255	missense	probably benign	0.04
X0019:Efcab6	UTSW	15	83879483	missense	possibly damaging	0.92
X0064:Efcab6	UTSW	15	83983493	missense	probably benign	0.08
Z1088:Efcab6	UTSW	15	83955009	missense	probably damaging	1.00

Posted On

2015-04-16