Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01372:Efcab6'

76199

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 #

IGL01372

Quality Score

Status

Chromosome

Chromosomal Location

83750913-83949580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83928505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 30 (M30L)

Ref Sequence

ENSEMBL: ENSMUSP00000114909 (fasta)

Gene Model

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

AlphaFold

Q6P1E8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122836

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156187
AA Change: M30L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: M30L

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	A	10: 79,842,089 (GRCm39)	D1049N	probably benign	Het
Ankdd1a	A	T	9: 65,411,421 (GRCm39)	L362Q	probably damaging	Het
Ankib1	A	T	5: 3,822,594 (GRCm39)	N37K	probably damaging	Het
Ankrd55	T	A	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Atp1a2	T	C	1: 172,106,510 (GRCm39)	R831G	probably damaging	Het
Bcar3	A	G	3: 122,316,943 (GRCm39)	D638G	probably damaging	Het
Cabp4	T	A	19: 4,189,322 (GRCm39)	E78D	probably benign	Het
Cmtm8	A	G	9: 114,619,755 (GRCm39)	V130A	possibly damaging	Het
Cyth3	A	G	5: 143,678,393 (GRCm39)	T66A	possibly damaging	Het
Dmbt1	A	T	7: 130,705,409 (GRCm39)	I1171F	possibly damaging	Het
Dnah10	G	A	5: 124,856,218 (GRCm39)	G2060D	probably damaging	Het
Dnah11	T	C	12: 118,156,134 (GRCm39)	H172R	probably damaging	Het
Dnah5	C	T	15: 28,230,636 (GRCm39)	A178V	probably benign	Het
Ehbp1l1	T	C	19: 5,765,817 (GRCm39)		probably benign	Het
Eps15	G	A	4: 109,179,303 (GRCm39)	E230K	probably damaging	Het
Fam91a1	A	G	15: 58,301,911 (GRCm39)	I258M	probably damaging	Het
Gm5581	G	A	6: 131,145,366 (GRCm39)		noncoding transcript	Het
Hrh1	G	A	6: 114,456,958 (GRCm39)	V80I	probably damaging	Het
Ldhd	G	A	8: 112,355,032 (GRCm39)	H290Y	probably benign	Het
Lepr	G	A	4: 101,592,774 (GRCm39)	E130K	possibly damaging	Het
Mycbpap	T	C	11: 94,397,282 (GRCm39)	I40V	possibly damaging	Het
Nrap	T	A	19: 56,317,534 (GRCm39)		probably null	Het
Opn5	T	A	17: 42,891,435 (GRCm39)		probably null	Het
Or1j14	T	A	2: 36,417,463 (GRCm39)	I13N	probably benign	Het
Or5ac24	A	G	16: 59,165,524 (GRCm39)	I180T	probably damaging	Het
Otop3	A	T	11: 115,235,930 (GRCm39)	T521S	possibly damaging	Het
Pcsk5	T	G	19: 17,595,108 (GRCm39)	T409P	probably damaging	Het
Pde9a	T	A	17: 31,680,685 (GRCm39)	F322Y	probably benign	Het
Pgm5	T	A	19: 24,710,985 (GRCm39)	I406F	probably damaging	Het
Prrc2b	T	C	2: 32,113,942 (GRCm39)	S1998P	probably damaging	Het
Prune2	T	C	19: 17,102,433 (GRCm39)	Y2531H	probably damaging	Het
Ptprk	T	C	10: 28,445,923 (GRCm39)	V932A	probably benign	Het
Rapgef6	T	A	11: 54,559,437 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,887 (GRCm39)	Y224F	probably damaging	Het
Rps6kl1	A	T	12: 85,193,663 (GRCm39)	C143S	probably damaging	Het
S100a7l2	A	G	3: 90,995,616 (GRCm39)		probably benign	Het
Slc5a5	G	A	8: 71,343,020 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,369,878 (GRCm39)	S182P	probably damaging	Het
Tmc3	A	G	7: 83,261,746 (GRCm39)	H608R	probably damaging	Het
Trim37	T	A	11: 87,075,772 (GRCm39)	H459Q	probably benign	Het
Vmn2r71	A	T	7: 85,270,022 (GRCm39)		probably benign	Het
Xirp2	T	C	2: 67,344,334 (GRCm39)	S2192P	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
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