Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Ercc6l2'

268357

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

040668-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63815240-63900302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63844595 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 401 (V401E)

Ref Sequence

ENSEMBL: ENSMUSP00000069488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000142827] [ENSMUST00000159957]

AlphaFold

Q9JIM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021925
AA Change: V401E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: V401E

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 damaging
Transcript: ENSMUST00000021926
AA Change: V286E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: V286E

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 damaging
Transcript: ENSMUST00000067821
AA Change: V401E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: V401E

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: ENSMUST00000142827

SMART Domains

Protein: ENSMUSP00000115796
Gene: ENSMUSG00000021470

Domain	Start	End	E-Value	Type
Pfam:DEAD	1	144	5.4e-6	PFAM
Pfam:SNF2_N	3	144	1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143449
AA Change: V401E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: V401E

Domain	Start	End	E-Value	Type
DEXDc	118	331	1.94e-33	SMART
Blast:DEXDc	380	425	2e-13	BLAST
Blast:DEXDc	432	565	2e-29	BLAST
SCOP:d1hv8a2	503	581	2e-8	SMART

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: ENSMUST00000222855

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,633,103	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Lrfn1	T	C	7: 28,460,054	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	probably benign	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	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
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

Predicted Primers

PCR Primer
(F):5'- GTCATAGAGACATAAGCAGAGGT -3'
(R):5'- GGGCTCTAGGGATCAGAACT -3'

Sequencing Primer
(F):5'- AGGTAGTGTGGGTGATAGCAC -3'
(R):5'- CTCTAGGGATCAGAACTAAGCTGTC -3'

Posted On

2015-02-19