Mutagenetix > Incidental Mutations

Incidental Mutation 'R1136:Ercc6l2'

95043

Institutional Source

Beutler Lab

Gene Symbol

Ercc6l2

Ensembl Gene

ENSMUSG00000021470

Gene Name

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

Synonyms

0610007P08Rik, 1700019D06Rik, 9330134C04Rik

MMRRC Submission

039209-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R1136 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63815240-63900302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63869120 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 679 (V679D)

Ref Sequence

ENSEMBL: ENSMUSP00000069488 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067821
AA Change: V679D

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: V679D

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

noncoding transcript
Transcript: ENSMUST00000109776

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

100% (52/52)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	C	T	13: 68,730,317	G401S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Bmp2	T	C	2: 133,560,927	F133L	probably damaging	Het
C1qtnf3	A	G	15: 10,978,584	E290G	probably damaging	Het
Ccdc180	C	A	4: 45,914,589	D701E	probably benign	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Csmd3	A	T	15: 47,675,817	I1508N	probably damaging	Het
Dgkh	T	C	14: 78,624,889	R80G	probably damaging	Het
Dock1	T	A	7: 134,848,173	V805D	possibly damaging	Het
Eef2	C	CN	10: 81,178,769		probably null	Het
Esp6	T	C	17: 40,565,393	Y111H	probably benign	Het
Focad	T	C	4: 88,326,180	F799S	unknown	Het
Foxred1	C	A	9: 35,205,037	M438I	probably benign	Het
Galnt11	T	G	5: 25,258,945	V405G	probably damaging	Het
Gm4847	A	G	1: 166,630,366	Y473H	probably damaging	Het
Gpbp1l1	C	T	4: 116,592,918	T461M	probably damaging	Het
Hnrnpu	A	T	1: 178,331,225		probably benign	Het
Kmt2d	A	T	15: 98,857,765		probably benign	Het
Matr3	A	G	18: 35,572,895	H291R	probably damaging	Het
Mfsd14b	C	T	13: 65,095,692	S46N	probably benign	Het
Mtch1	C	T	17: 29,333,770		probably null	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mylk	T	C	16: 35,000,318	I1880T	probably damaging	Het
N4bp2	T	C	5: 65,808,472	L1288P	probably damaging	Het
Ncf2	A	T	1: 152,830,372	H245L	probably damaging	Het
Nmd3	T	A	3: 69,746,716		probably benign	Het
Npdc1	G	T	2: 25,407,715	A127S	probably benign	Het
Nudt3	C	A	17: 27,623,106	R27L	probably benign	Het
Nwd1	C	T	8: 72,697,769		probably benign	Het
Papd4	C	T	13: 93,175,697		probably null	Het
Pex7	T	A	10: 19,888,688	I170F	probably benign	Het
Phyhipl	A	G	10: 70,569,072	V57A	probably damaging	Het
Pkhd1	G	A	1: 20,522,829	P1687S	possibly damaging	Het
Plekhj1	A	T	10: 80,797,820		probably null	Het
Prss21	T	A	17: 23,872,994	L312H	probably damaging	Het
Samsn1	T	C	16: 75,873,520	I232V	probably null	Het
Sec63	A	T	10: 42,806,546	D411V	probably damaging	Het
Slc44a4	C	T	17: 34,928,022	H343Y	probably damaging	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tmtc3	A	G	10: 100,472,043		probably benign	Het
Trafd1	C	T	5: 121,373,324	R477H	possibly damaging	Het
Uhrf2	T	A	19: 30,056,226		probably benign	Het
Vmn2r68	T	A	7: 85,222,341	D578V	possibly damaging	Het
Wdcp	G	A	12: 4,851,655	V504I	possibly damaging	Het
Wdr93	T	C	7: 79,773,448	Y487H	probably damaging	Het
Zfp457	T	C	13: 67,293,782	H147R	probably damaging	Het

Other mutations in Ercc6l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Ercc6l2	APN	13	63858319	missense	probably damaging	0.99
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	unclassified	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
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
RF013:Ercc6l2	UTSW	13	63853017	missense	probably benign	0.06
Z1088:Ercc6l2	UTSW	13	63853728	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CAGGGAGTGCCAGGAAATTCTGAC -3'
(R):5'- TGTCTGAAAATGCCCACGGAGG -3'

Sequencing Primer
(F):5'- GTGCCAGGAAATTCTGACATACTG -3'
(R):5'- ATGCCCACGGAGGTCATATTATC -3'

Posted On

2014-01-05