Mutagenetix > Incidental Mutation

Incidental Mutation 'R2329:Efcab6'

245815

Institutional Source

Beutler Lab

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4932408N08Rik, 4931407K02Rik

MMRRC Submission

040320-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83750913-83949580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83834249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 453 (R453Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156187
AA Change: R453Q

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: R453Q

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	C	13: 77,451,444 (GRCm39)	S843R	probably benign	Het
Adamts15	G	T	9: 30,813,781 (GRCm39)	R795S	probably damaging	Het
Adora2a	T	A	10: 75,162,017 (GRCm39)	V52E	probably damaging	Het
Amph	T	A	13: 19,323,520 (GRCm39)	L594Q	probably benign	Het
Batf3	A	T	1: 190,840,646 (GRCm39)		probably null	Het
Ccdc146	C	T	5: 21,513,610 (GRCm39)		probably null	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csn3	A	G	5: 88,077,862 (GRCm39)	T123A	possibly damaging	Het
Cspg4	A	G	9: 56,795,834 (GRCm39)	T1190A	probably benign	Het
Dab2	C	A	15: 6,459,044 (GRCm39)	Q298K	possibly damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Ern2	C	T	7: 121,772,710 (GRCm39)	M610I	possibly damaging	Het
Fnip1	A	G	11: 54,356,933 (GRCm39)	D38G	probably damaging	Het
Fosb	T	C	7: 19,041,110 (GRCm39)	T128A	probably benign	Het
Gad2	G	A	2: 22,558,301 (GRCm39)	V340M	probably damaging	Het
Gm19684	T	A	17: 36,439,345 (GRCm39)		probably benign	Het
Gstk1	T	A	6: 42,223,848 (GRCm39)	D86E	possibly damaging	Het
Hus1	A	G	11: 8,957,492 (GRCm39)		probably null	Het
Kbtbd8	T	C	6: 95,103,761 (GRCm39)	I547T	probably benign	Het
Mrpl38	T	A	11: 116,022,845 (GRCm39)	H373L	possibly damaging	Het
Nostrin	A	T	2: 68,991,438 (GRCm39)	T144S	probably damaging	Het
Prl8a6	T	C	13: 27,621,050 (GRCm39)	H60R	probably benign	Het
Ros1	A	G	10: 52,038,983 (GRCm39)	I329T	probably damaging	Het
Scd2	T	A	19: 44,286,492 (GRCm39)	Y107*	probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc34a3	T	C	2: 25,119,422 (GRCm39)	T483A	possibly damaging	Het
Slc35c1	A	T	2: 92,289,040 (GRCm39)	Y155*	probably null	Het
Susd1	T	C	4: 59,379,715 (GRCm39)	D304G	possibly damaging	Het
Taf5	C	T	19: 47,063,563 (GRCm39)	S371L	probably benign	Het
Tenm4	A	G	7: 96,545,069 (GRCm39)	T2362A	probably benign	Het
Tsg101	A	T	7: 46,540,868 (GRCm39)	D158E	probably damaging	Het
Ttn	G	A	2: 76,599,786 (GRCm39)	P19102S	probably damaging	Het
Ttn	A	G	2: 76,608,412 (GRCm39)	V17837A	probably damaging	Het
Uhrf1	C	A	17: 56,617,671 (GRCm39)		probably null	Het
Ulk4	C	T	9: 121,101,953 (GRCm39)	E42K	probably damaging	Het
Vmn1r184	A	T	7: 25,966,387 (GRCm39)	L44F	probably damaging	Het
Zfp932	A	T	5: 110,157,406 (GRCm39)	H368L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACACTGTCTTTCGCTGAGCAC -3'
(R):5'- TGGTCACATGGTGGTCACTG -3'

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

Posted On

2014-10-30