Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01330:Efcab6'

74484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4932408N08Rik, 4931407K02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

83750913-83949580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83928501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 31 (S31L)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122836

Predicted Effect

probably benign
Transcript: ENSMUST00000156187
AA Change: S31L

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: S31L

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,898,351 (GRCm39)	E245G	possibly damaging	Het
Acap2	T	C	16: 30,973,495 (GRCm39)	I43V	probably damaging	Het
Acot11	T	C	4: 106,628,681 (GRCm39)	T36A	probably benign	Het
Bsn	A	G	9: 107,988,112 (GRCm39)		probably benign	Het
Capza2	T	C	6: 17,654,170 (GRCm39)		probably null	Het
Cerkl	A	G	2: 79,199,125 (GRCm39)	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,710,442 (GRCm39)	T490A	probably benign	Het
Faim	T	A	9: 98,874,588 (GRCm39)	M67K	probably damaging	Het
Frem2	T	G	3: 53,562,662 (GRCm39)	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791 (GRCm39)	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375 (GRCm39)	F142L	probably benign	Het
Kif14	T	C	1: 136,404,112 (GRCm39)	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,627,867 (GRCm39)	L55*	probably null	Het
Kmt2e	C	A	5: 23,702,946 (GRCm39)	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,684,320 (GRCm39)	I114N	probably damaging	Het
Mtap	C	A	4: 89,089,460 (GRCm39)	T148K	probably damaging	Het
Muc16	G	A	9: 18,419,803 (GRCm39)	A8347V	possibly damaging	Het
Nhs	A	T	X: 160,624,449 (GRCm39)	S967T	probably damaging	Het
Npas3	A	G	12: 54,095,602 (GRCm39)	Y344C	probably damaging	Het
Or51q1	A	T	7: 103,629,349 (GRCm39)		probably benign	Het
Or5an9	T	C	19: 12,187,404 (GRCm39)	V158A	possibly damaging	Het
Or8b12c	T	A	9: 37,715,516 (GRCm39)	F103Y	probably damaging	Het
Osmr	A	G	15: 6,871,509 (GRCm39)	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,490,631 (GRCm39)	I770F	probably benign	Het
Pde4a	C	T	9: 21,103,734 (GRCm39)		probably benign	Het
Prkacb	T	G	3: 146,457,266 (GRCm39)	N79T	probably damaging	Het
Psd3	A	C	8: 68,149,830 (GRCm39)	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,810,538 (GRCm39)	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,530,042 (GRCm39)	D912E	probably damaging	Het
Sgsm3	T	A	15: 80,895,053 (GRCm39)		probably benign	Het
Shcbp1	T	C	8: 4,786,372 (GRCm39)	T577A	probably benign	Het
Siglec1	A	T	2: 130,925,456 (GRCm39)	V335D	probably damaging	Het
Siglec1	A	T	2: 130,916,925 (GRCm39)	L1110*	probably null	Het
Slc4a11	A	G	2: 130,529,602 (GRCm39)	I335T	probably benign	Het
Smchd1	A	C	17: 71,743,783 (GRCm39)	S461A	probably benign	Het
Spata16	C	T	3: 26,968,864 (GRCm39)	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,204,459 (GRCm39)	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,237,525 (GRCm39)	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,953,542 (GRCm39)	S569P	probably benign	Het
Vps13c	T	A	9: 67,871,390 (GRCm39)	V3220E	probably damaging	Het
Wdr59	T	C	8: 112,208,565 (GRCm39)	N439S	possibly damaging	Het
Zfp568	A	G	7: 29,721,702 (GRCm39)	M215V	probably benign	Het
Zgrf1	T	A	3: 127,377,656 (GRCm39)	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483 (GRCm39)	D255G	possibly damaging	Het

Other mutations in Efcab6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Efcab6	APN	15	83,902,843 (GRCm39)	missense	probably benign	0.09
IGL00946:Efcab6	APN	15	83,902,897 (GRCm39)	missense	probably benign	0.19
IGL01063:Efcab6	APN	15	83,938,713 (GRCm39)	start codon destroyed	probably null	0.53
IGL01372:Efcab6	APN	15	83,928,505 (GRCm39)	missense	possibly damaging	0.62
IGL01644:Efcab6	APN	15	83,917,273 (GRCm39)	missense	probably damaging	0.97
IGL02175:Efcab6	APN	15	83,780,301 (GRCm39)	missense	probably damaging	0.98
IGL02449:Efcab6	APN	15	83,894,234 (GRCm39)	missense	probably benign	0.00
IGL02514:Efcab6	APN	15	83,755,512 (GRCm39)	splice site	probably benign
IGL02514:Efcab6	APN	15	83,917,143 (GRCm39)	missense	possibly damaging	0.91
IGL02538:Efcab6	APN	15	83,938,722 (GRCm39)	start gained	probably benign
IGL02623:Efcab6	APN	15	83,763,649 (GRCm39)	missense	probably damaging	0.99
IGL02735:Efcab6	APN	15	83,783,898 (GRCm39)	missense	probably damaging	1.00
IGL03139:Efcab6	APN	15	83,836,422 (GRCm39)	missense	probably benign	0.04
IGL03274:Efcab6	APN	15	83,752,450 (GRCm39)	missense	probably damaging	1.00
IGL03400:Efcab6	APN	15	83,751,246 (GRCm39)	utr 3 prime	probably benign
P0045:Efcab6	UTSW	15	83,802,400 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Efcab6	UTSW	15	83,788,468 (GRCm39)	missense	probably benign	0.03
PIT4486001:Efcab6	UTSW	15	83,857,514 (GRCm39)	missense	probably benign	0.00
PIT4618001:Efcab6	UTSW	15	83,867,647 (GRCm39)	missense	probably benign	0.25
R0520:Efcab6	UTSW	15	83,834,247 (GRCm39)	missense	probably benign	0.00
R0575:Efcab6	UTSW	15	83,851,901 (GRCm39)	missense	probably benign	0.28
R0648:Efcab6	UTSW	15	83,817,265 (GRCm39)	splice site	probably benign
R0894:Efcab6	UTSW	15	83,802,493 (GRCm39)	missense	probably benign	0.00
R0975:Efcab6	UTSW	15	83,857,532 (GRCm39)	missense	probably benign	0.00
R1238:Efcab6	UTSW	15	83,817,338 (GRCm39)	missense	probably benign	0.06
R1625:Efcab6	UTSW	15	83,831,839 (GRCm39)	missense	probably benign
R1651:Efcab6	UTSW	15	83,755,194 (GRCm39)	missense	possibly damaging	0.50
R1691:Efcab6	UTSW	15	83,817,407 (GRCm39)	missense	probably benign	0.01
R1844:Efcab6	UTSW	15	83,851,822 (GRCm39)	missense	possibly damaging	0.47
R1929:Efcab6	UTSW	15	83,777,163 (GRCm39)	splice site	probably benign
R1983:Efcab6	UTSW	15	83,777,163 (GRCm39)	splice site	probably benign
R2100:Efcab6	UTSW	15	83,777,168 (GRCm39)	splice site	probably null
R2271:Efcab6	UTSW	15	83,831,200 (GRCm39)	missense	probably benign
R2329:Efcab6	UTSW	15	83,834,249 (GRCm39)	missense	possibly damaging	0.90
R3618:Efcab6	UTSW	15	83,834,270 (GRCm39)	missense	probably benign	0.00
R3687:Efcab6	UTSW	15	83,755,479 (GRCm39)	nonsense	probably null
R3688:Efcab6	UTSW	15	83,755,479 (GRCm39)	nonsense	probably null
R4212:Efcab6	UTSW	15	83,777,064 (GRCm39)	missense	probably damaging	1.00
R4223:Efcab6	UTSW	15	83,751,309 (GRCm39)	missense	probably damaging	1.00
R4459:Efcab6	UTSW	15	83,788,490 (GRCm39)	missense	probably damaging	1.00
R4578:Efcab6	UTSW	15	83,817,369 (GRCm39)	missense	probably benign	0.00
R4600:Efcab6	UTSW	15	83,831,126 (GRCm39)	missense	probably benign
R5174:Efcab6	UTSW	15	83,938,687 (GRCm39)	missense	probably benign
R5260:Efcab6	UTSW	15	83,829,324 (GRCm39)	missense	probably benign	0.01
R5576:Efcab6	UTSW	15	83,834,201 (GRCm39)	missense	probably benign	0.05
R5718:Efcab6	UTSW	15	83,788,439 (GRCm39)	missense	probably damaging	1.00
R5797:Efcab6	UTSW	15	83,808,478 (GRCm39)	missense	possibly damaging	0.82
R6027:Efcab6	UTSW	15	83,851,922 (GRCm39)	missense	probably benign
R6110:Efcab6	UTSW	15	83,763,835 (GRCm39)	missense	possibly damaging	0.69
R6132:Efcab6	UTSW	15	83,917,173 (GRCm39)	missense	probably damaging	1.00
R6166:Efcab6	UTSW	15	83,780,316 (GRCm39)	missense	probably benign	0.01
R6228:Efcab6	UTSW	15	83,851,825 (GRCm39)	missense	possibly damaging	0.67
R6341:Efcab6	UTSW	15	83,820,139 (GRCm39)	missense	possibly damaging	0.65
R6445:Efcab6	UTSW	15	83,752,558 (GRCm39)	missense	probably damaging	1.00
R6494:Efcab6	UTSW	15	83,928,523 (GRCm39)	critical splice acceptor site	probably null
R6611:Efcab6	UTSW	15	83,777,036 (GRCm39)	missense	possibly damaging	0.68
R7392:Efcab6	UTSW	15	83,873,152 (GRCm39)	missense	probably benign	0.39
R7599:Efcab6	UTSW	15	83,755,189 (GRCm39)	missense	probably damaging	1.00
R7711:Efcab6	UTSW	15	83,834,125 (GRCm39)	missense	probably benign	0.00
R7873:Efcab6	UTSW	15	83,902,826 (GRCm39)	critical splice donor site	probably null
R8031:Efcab6	UTSW	15	83,867,699 (GRCm39)	missense	possibly damaging	0.90
R8075:Efcab6	UTSW	15	83,851,824 (GRCm39)	missense	probably damaging	0.99
R8209:Efcab6	UTSW	15	83,788,456 (GRCm39)	missense	probably benign	0.04
R8226:Efcab6	UTSW	15	83,788,456 (GRCm39)	missense	probably benign	0.04
R8710:Efcab6	UTSW	15	83,902,849 (GRCm39)	missense	probably benign	0.00
R8869:Efcab6	UTSW	15	83,928,432 (GRCm39)	missense	probably damaging	0.97
R8890:Efcab6	UTSW	15	83,829,349 (GRCm39)	missense	probably damaging	1.00
R9278:Efcab6	UTSW	15	83,777,094 (GRCm39)	missense	probably damaging	1.00
R9383:Efcab6	UTSW	15	83,756,620 (GRCm39)	missense	possibly damaging	0.85
R9641:Efcab6	UTSW	15	83,763,676 (GRCm39)	missense	probably damaging	0.98
X0019:Efcab6	UTSW	15	83,763,684 (GRCm39)	missense	possibly damaging	0.92
X0064:Efcab6	UTSW	15	83,867,694 (GRCm39)	missense	probably benign	0.08
Z1088:Efcab6	UTSW	15	83,839,210 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07