Mutagenetix > Incidental Mutations

Incidental Mutation 'R8031:Efcab6'

617979

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83866712-84065379 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83983498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 260 (K260E)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156187
AA Change: K260E

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: K260E

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: 99.0%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,998,098		probably null	Het
Arhgdib	A	G	6: 136,924,276	Y152H	probably benign	Het
Atxn10	T	G	15: 85,393,393	S354A	probably benign	Het
Cacng6	T	C	7: 3,424,885	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,651,688	V7A	unknown	Het
Cdc40	T	A	10: 40,852,516	E157D	probably benign	Het
Defa25	T	A	8: 21,085,237	N77K	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Eif4a3	T	C	11: 119,288,905	Y352C	probably damaging	Het
Erc2	A	T	14: 28,011,692	K566N	probably damaging	Het
Fam3b	A	C	16: 97,481,852	Y74*	probably null	Het
Flg2	T	A	3: 93,220,214	S2144R	unknown	Het
Fmo4	G	T	1: 162,798,852	S375*	probably null	Het
Fsip2	A	G	2: 82,986,891	T4323A	probably benign	Het
Gm11639	T	C	11: 104,881,469	V2659A	possibly damaging	Het
Gm16503	A	T	4: 147,541,310	H87L	unknown	Het
Hes7	C	T	11: 69,122,765	A150V	probably damaging	Het
Hk1	T	A	10: 62,296,699	N190I	probably benign	Het
Il17rc	A	G	6: 113,482,821	D576G	probably damaging	Het
Inhba	T	A	13: 16,026,275	S141T	possibly damaging	Het
Itga8	G	T	2: 12,155,486	D840E	probably benign	Het
Kazn	T	C	4: 142,154,551	E126G		Het
Kcnk13	A	G	12: 99,966,179	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,908,042		probably benign	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,780,091	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,216,921	R585G	probably benign	Het
Ntrk2	T	C	13: 58,874,379	I416T	probably benign	Het
Olfr1080	G	A	2: 86,554,103	T7I	probably damaging	Het
Olfr1217	A	T	2: 89,023,628	I125N	probably damaging	Het
Olfr177	T	C	16: 58,872,691	N153S	probably benign	Het
Olfr652	T	A	7: 104,565,109	I296N	probably damaging	Het
P4ha3	A	G	7: 100,292,698	E106G	probably damaging	Het
Pcif1	A	G	2: 164,886,522	N233S	probably damaging	Het
Pgm2l1	C	A	7: 100,272,418	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,512,834	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,901,213	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,174,088	A306T	probably benign	Het
Psmd4	T	C	3: 95,035,892	D67G	probably damaging	Het
Ptprt	G	A	2: 162,135,457	T307I	probably damaging	Het
Rnf213	C	A	11: 119,430,281	C1188*	probably null	Het
Ror2	C	T	13: 53,113,157	C426Y	probably damaging	Het
Sacs	C	T	14: 61,204,191	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,421,505	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,350,603	A340T	probably benign	Het
Smarca5	A	T	8: 80,704,682	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,326,489	M626I	probably benign	Het
Spink5	T	A	18: 44,010,236	D753E	probably benign	Het
Taf1d	T	G	9: 15,310,399	I226S	probably damaging	Het
Tmem225	A	G	9: 40,149,393	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,501,419	K303E	probably damaging	Het
Ube2n	C	T	10: 95,541,382	R70C	probably benign	Het
Ubl7	C	T	9: 57,923,206	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,637,181	M191K	probably damaging	Het
Vmn2r103	C	T	17: 19,793,497	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,042,786	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,986,481	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,954,867	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,330,630	I1121N	not run	Het
Zfp235	T	A	7: 24,141,689	V511E	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
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
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
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'- CATGGGTATCTCAGCAGTGG -3'
(R):5'- ACAGCAGTATTTCCCATGATCATG -3'

Sequencing Primer
(F):5'- TTCCTTAGGGAAGACCCAC -3'
(R):5'- TCATGTTGTTAAAGGCAGCAGC -3'

Posted On

2020-01-23