Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00430:Ercc6l2'

5928

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ercc6l2

Ensembl Gene

ENSMUSG00000021470

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2

Synonyms

0610007P08Rik, 1700019D06Rik, 9330134C04Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

63815240-63900302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63858319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 588 (V588F)

Ref Sequence

ENSEMBL: ENSMUSP00000021925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]

AlphaFold

Q9JIM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021925
AA Change: V588F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: V588F

Domain	Start	End	E-Value	Type
DEXDc	118	331	1.94e-33	SMART
Blast:DEXDc	380	425	2e-13	BLAST
HELICc	512	589	6.96e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021926

SMART Domains

Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
DEXDc	28	216	1.74e-12	SMART
Blast:DEXDc	265	310	1e-13	BLAST
Blast:DEXDc	317	450	4e-30	BLAST
SCOP:d1hv8a2	388	466	7e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067821
AA Change: V612F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: V612F

Domain	Start	End	E-Value	Type
DEXDc	118	331	1.94e-33	SMART
Blast:DEXDc	380	425	3e-13	BLAST
HELICc	536	619	3.12e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095724

SMART Domains

Protein: ENSMUSP00000093392
Gene: ENSMUSG00000021470

Domain	Start	End	E-Value	Type
DEXDc	1	183	2.72e-14	SMART
Blast:DEXDc	232	277	3e-13	BLAST
HELICc	388	471	3.12e-23	SMART
low complexity region	817	827	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159957

SMART Domains

Protein: ENSMUSP00000124912
Gene: ENSMUSG00000021470

Domain	Start	End	E-Value	Type
Pfam:SNF2_N	101	195	2.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221964

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 member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,784,202	S17N	probably benign	Het
Atp2a1	C	T	7: 126,447,216	W72*	probably null	Het
Baz2b	C	A	2: 59,912,795	A1611S	probably benign	Het
Cep290	A	T	10: 100,508,724	I475L	probably benign	Het
Cpsf4l	C	T	11: 113,709,218		probably benign	Het
Crispld2	A	T	8: 120,033,560	R408S	probably damaging	Het
Cyp3a25	A	T	5: 145,993,360	M145K	probably damaging	Het
Dexi	A	T	16: 10,542,445	D82E	probably benign	Het
Epyc	A	T	10: 97,681,147	K282N	probably benign	Het
Galnt14	C	T	17: 73,494,232	V532I	probably damaging	Het
Grk1	C	A	8: 13,413,128	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,719,136	G609W	possibly damaging	Het
Hadha	C	T	5: 30,120,147	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,182,019	D499A	probably damaging	Het
Kcna10	T	G	3: 107,194,728	V225G	probably damaging	Het
Kcnh4	T	C	11: 100,757,654	T75A	possibly damaging	Het
Lama4	A	G	10: 39,045,704	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,540,201	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,296,463		probably null	Het
Pck2	C	T	14: 55,543,944	A209V	probably benign	Het
Plce1	A	G	19: 38,725,017	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,521,775	M25L	probably benign	Het
Rasef	G	A	4: 73,771,425	Q117*	probably null	Het
Rbm14	A	G	19: 4,811,426	V28A	probably damaging	Het
Rcan2	A	G	17: 43,836,384	T38A	probably benign	Het
Rin1	A	G	19: 5,051,376	N96S	probably benign	Het
Rrp12	A	G	19: 41,877,334		probably null	Het
Slco1a6	A	T	6: 142,101,651	C404*	probably null	Het
St6galnac3	T	C	3: 153,509,403	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692	S1376R	probably benign	Het
Trip11	T	C	12: 101,886,147	I553V	probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Uggt2	A	T	14: 119,026,429	L1063*	probably null	Het
Zmym6	T	A	4: 127,101,949	C269*	probably null	Het

Other mutations in Ercc6l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Ercc6l2	APN	13	63844613	missense	probably damaging	1.00
IGL00765:Ercc6l2	APN	13	63848772	missense	possibly damaging	0.95
IGL01062:Ercc6l2	APN	13	63847454	missense	probably null	1.00
IGL01655:Ercc6l2	APN	13	63819752	nonsense	probably null
IGL02175:Ercc6l2	APN	13	63869190	utr 3 prime	probably benign
IGL02201:Ercc6l2	APN	13	63852969	missense	probably benign	0.12
IGL02351:Ercc6l2	APN	13	63853683	missense	probably damaging	1.00
IGL02358:Ercc6l2	APN	13	63853683	missense	probably damaging	1.00
IGL02622:Ercc6l2	APN	13	63853623	splice site	probably null
PIT4812001:Ercc6l2	UTSW	13	63858257	missense	possibly damaging	0.58
R0142:Ercc6l2	UTSW	13	63872506	unclassified	probably benign
R0648:Ercc6l2	UTSW	13	63844645	missense	probably benign	0.04
R1136:Ercc6l2	UTSW	13	63869120	missense	possibly damaging	0.75
R1536:Ercc6l2	UTSW	13	63824871	missense	possibly damaging	0.81
R1706:Ercc6l2	UTSW	13	63872458	unclassified	probably benign
R2108:Ercc6l2	UTSW	13	63871988	unclassified	probably benign
R2111:Ercc6l2	UTSW	13	63834749	missense	probably damaging	1.00
R2126:Ercc6l2	UTSW	13	63848771	missense	probably damaging	1.00
R2154:Ercc6l2	UTSW	13	63866007	missense	probably damaging	1.00
R3551:Ercc6l2	UTSW	13	63844595	missense	probably damaging	1.00
R3773:Ercc6l2	UTSW	13	63841450	missense	probably damaging	1.00
R3923:Ercc6l2	UTSW	13	63870735	unclassified	probably benign
R4233:Ercc6l2	UTSW	13	63872168	unclassified	probably benign
R4782:Ercc6l2	UTSW	13	63834738	missense	probably damaging	1.00
R4928:Ercc6l2	UTSW	13	63894813	utr 3 prime	probably benign
R5163:Ercc6l2	UTSW	13	63899031	utr 3 prime	probably benign
R5268:Ercc6l2	UTSW	13	63869111	missense	possibly damaging	0.92
R5423:Ercc6l2	UTSW	13	63872258	unclassified	probably benign
R6128:Ercc6l2	UTSW	13	63853749	missense	probably damaging	0.98
R6164:Ercc6l2	UTSW	13	63872344	unclassified	probably benign
R7238:Ercc6l2	UTSW	13	63865984	missense	probably damaging	0.98
R7295:Ercc6l2	UTSW	13	63819775	missense	probably damaging	0.96
R7708:Ercc6l2	UTSW	13	63841514	nonsense	probably null
R8085:Ercc6l2	UTSW	13	63844553	missense	probably benign	0.00
R8131:Ercc6l2	UTSW	13	63834747	missense	probably damaging	1.00
R8259:Ercc6l2	UTSW	13	63872471	missense
R8372:Ercc6l2	UTSW	13	63853749	missense	probably damaging	0.98
R8479:Ercc6l2	UTSW	13	63824815	missense	possibly damaging	0.95
R9034:Ercc6l2	UTSW	13	63844633	missense	probably damaging	0.97
R9065:Ercc6l2	UTSW	13	63820052	missense	possibly damaging	0.93
R9557:Ercc6l2	UTSW	13	63842122	missense	probably damaging	1.00
R9700:Ercc6l2	UTSW	13	63819711	missense	probably benign	0.32
R9763:Ercc6l2	UTSW	13	63834624	missense	probably damaging	1.00
RF013:Ercc6l2	UTSW	13	63853017	missense	probably benign	0.06
Z1088:Ercc6l2	UTSW	13	63853728	missense	possibly damaging	0.93

Posted On

2012-04-20