Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Efcab6'

587936

Institutional Source

Beutler Lab

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4931407K02Rik, 4932408N08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83866712-84065379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83870988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1376 (R1376W)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000156187
AA Change: R1376W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: R1376W

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,381,835	H321L	probably damaging	Het
Adamts3	T	C	5: 89,861,397	S136G	probably benign	Het
Apba3	T	A	10: 81,272,346	N445K	probably damaging	Het
Aqp6	A	G	15: 99,603,771	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,500,343	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,214,151	I379T	probably damaging	Het
Ccdc169	A	G	3: 55,140,109	D7G	probably damaging	Het
Cyp2f2	T	A	7: 27,131,359		probably null	Het
Daam2	T	A	17: 49,480,727	K453*	probably null	Het
Dennd4c	T	C	4: 86,811,612	L817P	probably damaging	Het
Esrra	G	T	19: 6,913,846	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,226,876	V392E	probably damaging	Het
Fanca	A	G	8: 123,271,260	V1229A	probably benign	Het
Fdps	G	T	3: 89,099,386	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,627,589	D1269E	probably benign	Het
Foxred1	G	A	9: 35,205,636	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,967,624	V226I	possibly damaging	Het
Gcnt2	C	A	13: 40,860,867	C171*	probably null	Het
Glyat	C	A	19: 12,639,808	A8E	probably damaging	Het
Golgb1	C	A	16: 36,875,396	R86S	unknown	Het
Hc	T	A	2: 35,050,419	T136S	probably damaging	Het
Hdac1	G	T	4: 129,517,466	S421*	probably null	Het
Hmcn2	G	T	2: 31,356,286	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,193,587	N54S	probably benign	Het
Impad1	G	A	4: 4,778,207	T177I	probably damaging	Het
Itgae	T	A	11: 73,121,960	V706E	possibly damaging	Het
Itgax	G	A	7: 128,148,090	V992M	probably damaging	Het
Klk10	A	G	7: 43,784,427	D221G	probably benign	Het
Klkb1	T	C	8: 45,278,113	I205V	probably benign	Het
Kpna2	T	C	11: 106,998,757	N8S	probably null	Het
L3mbtl1	A	C	2: 162,964,514	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,661,549	C4181Y		Het
Mcat	T	C	15: 83,547,671	Y332C	probably damaging	Het
Mecom	T	C	3: 29,956,385	D648G	probably damaging	Het
Mesp2	A	T	7: 79,810,969	D14V	probably damaging	Het
Mlh3	A	T	12: 85,268,199	Y404*	probably null	Het
Mterf3	A	T	13: 66,917,148	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,512,062	V602A	probably benign	Het
Olfr1247	T	A	2: 89,609,227	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,374,660	F209L	probably damaging	Het
Pmp22	C	A	11: 63,158,348	A139D	probably damaging	Het
Polr2e	T	C	10: 80,038,570	D34G	possibly damaging	Het
Ppard	T	A	17: 28,297,117	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,850,745	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,519	A1536V	not run	Het
Rabgap1	TGGGG	TGGG	2: 37,502,896		probably null	Het
Retreg1	T	A	15: 25,971,641	D222E	probably benign	Het
Rmnd1	T	C	10: 4,413,404	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sall3	C	T	18: 80,972,052	R887H	possibly damaging	Het
Samd3	A	G	10: 26,263,813	D281G	probably benign	Het
Scube1	T	A	15: 83,613,452	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 130,040,811		probably benign	Het
Slc2a2	A	G	3: 28,698,017	M1V	probably null	Het
Slc39a2	A	T	14: 51,895,031	T144S	probably benign	Het
Slc5a9	T	C	4: 111,877,740	H619R	probably benign	Het
Slco4a1	T	C	2: 180,471,255	F427L	probably benign	Het
Snapc3	C	A	4: 83,417,836	Y28*	probably null	Het
St3gal6	C	T	16: 58,473,437	R243H	probably benign	Het
Stat2	T	A	10: 128,277,197	N119K	possibly damaging	Het
Syne2	G	C	12: 75,966,371	V2779L	probably benign	Het
Tacc1	T	A	8: 25,201,285	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,151,833	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,680	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,986,224	I18T	probably benign	Het
Wdr35	G	C	12: 9,024,886	A1000P	probably benign	Het
Wnk1	C	A	6: 119,929,828	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,994,613	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,437,833	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,331,856	K265R	probably benign	Het
Zfp575	T	C	7: 24,586,668	D21G	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
IGL02175:Efcab6	APN	15	83896100	missense	probably damaging	0.98
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
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
R8710:Efcab6	UTSW	15	84018648	missense	probably benign	0.00
R8869:Efcab6	UTSW	15	84044231	missense	probably damaging	0.97
R8890:Efcab6	UTSW	15	83945148	missense	probably damaging	1.00
R9278:Efcab6	UTSW	15	83892893	missense	probably damaging	1.00
R9383:Efcab6	UTSW	15	83872419	missense	possibly damaging	0.85
R9641:Efcab6	UTSW	15	83879475	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- CTCTGACCAGCAGTACTTGG -3'
(R):5'- ATCTCTGCAGCTGAGTTCCTG -3'

Sequencing Primer
(F):5'- CCTGTGCCTCCAAGTGAG -3'
(R):5'- CAGCTGAGTTCCTGGGTTC -3'

Posted On

2019-10-24