Mutagenetix > Incidental Mutation

Incidental Mutation 'R3618:Efcab6'

268530

Institutional Source

Beutler Lab

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4932408N08Rik, 4931407K02Rik

MMRRC Submission

040675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83750913-83949580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83834270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 446 (H446R)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

probably benign
Transcript: ENSMUST00000156187
AA Change: H446R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: H446R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163773

SMART Domains

Protein: ENSMUSP00000128002
Gene: ENSMUSG00000022441

Domain	Start	End	E-Value	Type
Blast:EFh	44	69	6e-9	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,168 (GRCm39)	E1119G	probably damaging	Het
Ahnak2	A	G	12: 112,749,842 (GRCm39)	I132T	probably damaging	Het
Arhgap29	G	A	3: 121,782,176 (GRCm39)	D63N	possibly damaging	Het
Bsn	T	A	9: 107,994,760 (GRCm39)		probably null	Het
Cfap161	A	C	7: 83,429,390 (GRCm39)	Y209*	probably null	Het
Drp2	A	C	X: 133,340,717 (GRCm39)	D458A	probably benign	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
F13a1	G	A	13: 37,127,967 (GRCm39)	T337I	probably damaging	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Hcfc1	A	T	X: 72,993,694 (GRCm39)	V1157D	probably benign	Het
Inava	A	C	1: 136,142,110 (GRCm39)	V663G	probably benign	Het
Ino80	T	C	2: 119,277,353 (GRCm39)	D374G	probably null	Het
Kif1a	T	C	1: 93,004,765 (GRCm39)	E143G	probably null	Het
Larp1	A	T	11: 57,948,172 (GRCm39)	E990D	probably benign	Het
Larp7	C	A	3: 127,330,614 (GRCm39)	E568*	probably null	Het
Ltn1	A	T	16: 87,217,787 (GRCm39)	S298R	probably damaging	Het
Mcm10	A	G	2: 5,001,913 (GRCm39)		probably null	Het
Mef2a	G	A	7: 66,918,075 (GRCm39)	S111L	probably benign	Het
Mroh1	A	G	15: 76,336,546 (GRCm39)	T1590A	possibly damaging	Het
Ncoa6	A	T	2: 155,249,709 (GRCm39)	H1198Q	possibly damaging	Het
Ogg1	A	G	6: 113,305,334 (GRCm39)	E49G	probably damaging	Het
Palm3	T	A	8: 84,755,973 (GRCm39)	V495E	probably benign	Het
Pam	A	G	1: 97,762,157 (GRCm39)	F809L	probably damaging	Het
Parp3	T	C	9: 106,352,262 (GRCm39)	E88G	possibly damaging	Het
Ptprs	A	G	17: 56,735,965 (GRCm39)	I156T	probably benign	Het
Pus7l	T	A	15: 94,425,788 (GRCm39)	I538F	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Ryr2	C	T	13: 11,787,466 (GRCm39)		probably null	Het
Slc8a2	A	G	7: 15,886,824 (GRCm39)	N656D	possibly damaging	Het
Stard9	C	T	2: 120,529,500 (GRCm39)	T1919I	possibly damaging	Het
Tbcel	T	C	9: 42,372,591 (GRCm39)		probably benign	Het
Trpv3	A	T	11: 73,186,281 (GRCm39)	I691F	probably damaging	Het
Uba2	A	G	7: 33,853,907 (GRCm39)		probably null	Het
Usp53	A	C	3: 122,728,061 (GRCm39)	S840R	probably benign	Het
Vmn2r100	A	T	17: 19,743,692 (GRCm39)	I452F	probably benign	Het
Zbtb48	A	T	4: 152,110,484 (GRCm39)		probably null	Het
Zfp385b	G	A	2: 77,246,233 (GRCm39)	P177S	probably benign	Het
Zfp42	T	C	8: 43,748,938 (GRCm39)	R188G	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
IGL01330:Efcab6	APN	15	83,928,501 (GRCm39)	missense	probably benign	0.26
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCACACTTGACTGCCTG -3'
(R):5'- TGCTTTTATCACATGTGGTCAC -3'

Sequencing Primer
(F):5'- ACTGCCTGGCTTCGAGAGTTAC -3'
(R):5'- TCACATGGTGGTCACTGGC -3'

Posted On

2015-02-19