Mutagenetix > Incidental Mutation

Incidental Mutation 'R5576:Efcab6'

437234

Institutional Source

Beutler Lab

Gene Symbol

Efcab6

Ensembl Gene

ENSMUSG00000022441

Gene Name

EF-hand calcium binding domain 6

Synonyms

4932408N08Rik, 4931407K02Rik

MMRRC Submission

043131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5576 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83750913-83949580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83834201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 469 (S469I)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

probably benign
Transcript: ENSMUST00000156187
AA Change: S469I

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: S469I

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,570 (GRCm39)	T96I	probably benign	Het
Add2	G	T	6: 86,084,457 (GRCm39)		probably null	Het
Agbl1	C	T	7: 75,984,985 (GRCm39)	T134M	probably benign	Het
Agfg1	T	A	1: 82,848,445 (GRCm39)	S32T	probably benign	Het
Ankrd17	A	C	5: 90,391,083 (GRCm39)	S2087A	probably benign	Het
Apob	A	T	12: 8,048,662 (GRCm39)	E1012V	probably damaging	Het
Baiap2	T	A	11: 119,887,737 (GRCm39)	V297E	probably benign	Het
BC034090	T	G	1: 155,117,214 (GRCm39)	K301N	probably benign	Het
Bhlha9	T	C	11: 76,563,595 (GRCm39)	I74T	probably damaging	Het
Btnl9	T	C	11: 49,069,712 (GRCm39)	H189R	probably benign	Het
Ccdc122	G	A	14: 77,329,317 (GRCm39)	M123I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah9	T	C	11: 65,724,922 (GRCm39)		probably null	Het
Dnaja2	A	T	8: 86,266,033 (GRCm39)	L351I	possibly damaging	Het
Esp15	C	A	17: 39,953,564 (GRCm39)	T17K	probably damaging	Het
Fads1	A	G	19: 10,163,238 (GRCm39)	T172A	probably benign	Het
Fbp2	A	T	13: 62,985,005 (GRCm39)	D305E	probably benign	Het
Golga4	A	G	9: 118,382,602 (GRCm39)	T541A	probably benign	Het
Herc3	T	C	6: 58,865,710 (GRCm39)	Y768H	probably benign	Het
Kmt2a	A	G	9: 44,753,931 (GRCm39)	V514A	possibly damaging	Het
Melk	A	G	4: 44,312,255 (GRCm39)	E141G	probably null	Het
Nln	A	G	13: 104,195,338 (GRCm39)	Y245H	probably damaging	Het
Nrap	C	T	19: 56,310,414 (GRCm39)	R1563H	probably damaging	Het
Or7g34	T	A	9: 19,478,369 (GRCm39)	M101L	probably benign	Het
Or8b44	A	C	9: 38,410,204 (GRCm39)	K80Q	probably damaging	Het
Pde4b	T	A	4: 102,287,359 (GRCm39)	I34N	probably damaging	Het
Pex11g	A	G	8: 3,515,875 (GRCm39)	S53P	probably damaging	Het
Pole	A	T	5: 110,459,931 (GRCm39)	K1112*	probably null	Het
Ppfia4	T	G	1: 134,250,788 (GRCm39)	D184A	possibly damaging	Het
Rpp30	T	A	19: 36,079,251 (GRCm39)	D216E	probably benign	Het
Sbno2	C	T	10: 79,903,171 (GRCm39)	A398T	probably damaging	Het
Sbp	T	A	17: 24,164,552 (GRCm39)	S94T	probably benign	Het
Skp1	T	G	11: 52,133,415 (GRCm39)	D33E	possibly damaging	Het
Slc17a8	A	G	10: 89,433,364 (GRCm39)	W220R	probably damaging	Het
Slfn9	A	T	11: 82,872,258 (GRCm39)	M826K	probably benign	Het
Snx2	A	G	18: 53,343,822 (GRCm39)	K322E	probably benign	Het
Spata32	T	A	11: 103,100,653 (GRCm39)	N38I	possibly damaging	Het
Sycp1	T	C	3: 102,726,218 (GRCm39)	R969G	probably damaging	Het
Trgc2	T	C	13: 19,489,301 (GRCm39)	I144V	probably benign	Het
Trpc1	A	G	9: 95,603,377 (GRCm39)	L385S	probably damaging	Het
Vmn2r105	C	T	17: 20,444,836 (GRCm39)		probably null	Het
Xrcc6	T	A	15: 81,906,693 (GRCm39)	D79E	probably damaging	Het
Zan	A	T	5: 137,426,744 (GRCm39)	C2467*	probably null	Het
Zfp26	A	G	9: 20,348,803 (GRCm39)	V587A	possibly damaging	Het
Zfp553	C	T	7: 126,835,875 (GRCm39)	R477C	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
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
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'- TTGAAACCTCGTGGGAATGTG -3'
(R):5'- AGCTTGGCTGAAGTTGATGC -3'

Sequencing Primer
(F):5'- GGGGTCGCTGTTTTATCCATCATC -3'
(R):5'- GCTTTACTGATGCTGAGAATGCAC -3'

Posted On

2016-10-26