Mutagenetix > Incidental Mutation

Incidental Mutation 'R3687:Efcab6'

269588

Institutional Source

Beutler Lab

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4932408N08Rik, 4931407K02Rik

MMRRC Submission

040683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83750913-83949580 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 83755479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1323 (Q1323*)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144169

Predicted Effect

probably null
Transcript: ENSMUST00000156187
AA Change: Q1323*

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: Q1323*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (38/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,432,506 (GRCm39)	V115M	probably damaging	Het
Atp11c	T	C	X: 59,327,004 (GRCm39)	Y431C	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
B230307C23Rik	T	A	16: 97,810,199 (GRCm39)	N62K	probably benign	Het
Bnip2	T	A	9: 69,906,432 (GRCm39)	Y118N	probably damaging	Het
Bptf	C	A	11: 106,965,024 (GRCm39)	R1275L	probably benign	Het
C2cd3	C	T	7: 100,085,040 (GRCm39)	P1544L	probably benign	Het
Cd44	G	A	2: 102,731,695 (GRCm39)		probably null	Het
Col10a1	A	G	10: 34,271,494 (GRCm39)	T489A	probably benign	Het
Dgkk	T	C	X: 6,804,631 (GRCm39)		probably benign	Het
Eftud2	T	C	11: 102,735,027 (GRCm39)	E624G	probably damaging	Het
Elmo3	G	A	8: 106,035,468 (GRCm39)		probably null	Het
Galnt13	A	T	2: 54,770,074 (GRCm39)	T289S	probably benign	Het
Gm16485	T	C	9: 8,972,382 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,428,132 (GRCm39)	V143D	probably damaging	Het
Gpr18	T	C	14: 122,149,873 (GRCm39)	T51A	probably damaging	Het
Hr	T	A	14: 70,795,236 (GRCm39)	N289K	probably damaging	Het
Ighv1-24	T	A	12: 114,736,700 (GRCm39)	I67F	probably damaging	Het
Ksr2	A	G	5: 117,693,044 (GRCm39)	Q164R	probably damaging	Het
Myo3b	A	G	2: 70,075,658 (GRCm39)	E554G	probably benign	Het
Or10u4	A	T	10: 129,802,581 (GRCm39)		probably null	Het
Or5b99	G	A	19: 12,976,466 (GRCm39)	G39R	probably damaging	Het
Or8b101	A	G	9: 38,020,177 (GRCm39)	Y60C	probably damaging	Het
Pclo	A	G	5: 14,719,009 (GRCm39)	T1049A	unknown	Het
Pkhd1l1	T	C	15: 44,409,983 (GRCm39)	S2497P	probably benign	Het
Ppm1f	T	C	16: 16,741,747 (GRCm39)	V407A	probably damaging	Het
Ppox	A	G	1: 171,105,066 (GRCm39)	L374S	probably damaging	Het
Prkdc	T	C	16: 15,617,831 (GRCm39)	Y3221H	probably benign	Het
Ptprk	A	T	10: 28,349,039 (GRCm39)	I520F	probably damaging	Het
Pus10	T	C	11: 23,617,334 (GRCm39)	F16L	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3d	A	T	9: 21,826,204 (GRCm39)	M101K	probably damaging	Het
Rangap1	A	T	15: 81,602,963 (GRCm39)	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,211,485 (GRCm39)	F177S	probably benign	Het
Tas2r114	T	C	6: 131,666,231 (GRCm39)	T266A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trem3	T	A	17: 48,564,955 (GRCm39)	V152D	probably damaging	Het
Vmn2r4	T	A	3: 64,296,896 (GRCm39)	I630F	possibly damaging	Het
Vwa5b2	C	A	16: 20,410,308 (GRCm39)		probably benign	Het
Zfp518b	A	T	5: 38,831,455 (GRCm39)	H183Q	probably 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
R3618:Efcab6	UTSW	15	83,834,270 (GRCm39)	missense	probably benign	0.00
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'- TGGGGATGCACTCCTTTCTG -3'
(R):5'- CCAAAGTTGACTATTATGTGTCGG -3'

Sequencing Primer
(F):5'- TGCCCCTCACTTAGCGG -3'
(R):5'- GCTTGAGATGGCCCACTAGAG -3'

Posted On

2015-02-19