Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Ercc6l2'

232586

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

040115-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63815240-63900302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63834749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 126 (T126A)

Ref Sequence

ENSEMBL: ENSMUSP00000115796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000142827] [ENSMUST00000144763] [ENSMUST00000159957]

AlphaFold

Q9JIM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021925
AA Change: T248A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: T248A

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: T133A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: T133A

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: T248A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: T248A

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 damaging
Transcript: ENSMUST00000142827
AA Change: T126A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115796
Gene: ENSMUSG00000021470
AA Change: T126A

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: T248A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: T248A

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 damaging
Transcript: ENSMUST00000144763
AA Change: T248A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000146190
AA Change: T233A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

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

0.3460

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,407,589		probably benign	Het
Abca2	A	T	2: 25,437,505	I669F	possibly damaging	Het
Adam9	C	T	8: 24,982,126		probably benign	Het
Adprhl1	A	G	8: 13,248,694	Y79H	probably damaging	Het
Akp3	A	T	1: 87,126,885		probably null	Het
Alpk2	T	C	18: 65,349,774	S388G	probably benign	Het
Amph	G	A	13: 19,116,266		probably benign	Het
Arr3	T	A	X: 100,614,641	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,459,546	F808S	probably damaging	Het
Baz1a	T	A	12: 54,911,385	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,612,421	H297Q	probably damaging	Het
Calr3	T	A	8: 72,427,268	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,847,492	R46C	probably damaging	Het
Cdh23	G	T	10: 60,305,583	F3127L	probably damaging	Het
Cps1	T	A	1: 67,176,980	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,773,634	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,519,370	V379A	probably benign	Het
Dst	T	C	1: 34,169,178	S737P	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Eci2	A	G	13: 34,990,716		probably null	Het
Fgf6	T	C	6: 127,015,760	S59P	probably damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,684,317	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,923,778	D24E	probably benign	Het
Gigyf2	A	G	1: 87,440,730	H1044R	probably damaging	Het
Gk2	T	C	5: 97,456,305	I225V	probably benign	Het
Gm3944	C	A	12: 18,853,894	S8*	probably null	Het
Gm4788	T	A	1: 139,774,679		probably benign	Het
Gnl3l	A	G	X: 150,997,294	S217P	probably damaging	Het
Gpr156	A	G	16: 37,978,751	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366	T89S	probably benign	Het
Ift172	G	A	5: 31,286,079	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,161,629	S72*	probably null	Het
Ildr1	A	G	16: 36,721,979	E247G	probably damaging	Het
Insr	A	G	8: 3,169,748	S925P	probably benign	Het
Itpr1	T	G	6: 108,378,309		probably benign	Het
Khdrbs3	C	T	15: 69,024,824	T111I	probably benign	Het
Mageb3	A	G	2: 121,954,825		probably null	Het
Mcf2l	A	T	8: 13,001,867	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409	E1456G	probably damaging	Het
Mta1	C	T	12: 113,131,628	T467I	probably damaging	Het
Mtr	A	T	13: 12,244,601	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,022,571	P819T	probably damaging	Het
Myh1	G	A	11: 67,214,620	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Neb	A	G	2: 52,284,263	I1528T	probably benign	Het
Nek1	T	A	8: 61,124,326		probably null	Het
Nes	A	G	3: 87,977,311	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,199,353	I30M	probably benign	Het
Nup153	A	G	13: 46,683,928	S1273P	probably benign	Het
Nup155	A	G	15: 8,121,467	I334V	probably benign	Het
Olfr1085	G	T	2: 86,658,437	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1469	G	A	19: 13,410,943	A125T	probably damaging	Het
Olfr213	T	C	6: 116,540,650	Y66H	possibly damaging	Het
Olfr397	A	G	11: 73,964,914	Y102C	probably damaging	Het
Olfr418	A	T	1: 173,270,312	M46L	probably benign	Het
Olfr910	T	A	9: 38,539,280	N128K	probably benign	Het
Parn	G	A	16: 13,603,069	S473L	probably damaging	Het
Pcnt	T	C	10: 76,420,526	K627E	probably damaging	Het
Pja2	T	A	17: 64,290,036	D553V	probably damaging	Het
Prune2	T	C	19: 17,208,238	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,500,758		probably null	Het
Rdh13	A	G	7: 4,445,483	V10A	probably benign	Het
Rimbp2	T	C	5: 128,773,501	Y906C	probably damaging	Het
Ripor1	T	C	8: 105,614,712	F59S	probably damaging	Het
Rnf185	T	C	11: 3,432,393		probably benign	Het
Runx3	T	C	4: 135,155,316	V107A	probably damaging	Het
Scn3b	T	C	9: 40,282,445	V156A	probably benign	Het
Serpina3a	G	A	12: 104,116,222	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,785,155	R111*	probably null	Het
Slc5a5	A	T	8: 70,889,751		probably null	Het
Snx13	A	T	12: 35,138,085	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,573	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,275,881	K1382N	probably benign	Het
Tagap1	A	G	17: 6,956,860	S146P	probably benign	Het
Tagln3	A	G	16: 45,711,594	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,240,914	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,932,644	E211G	probably benign	Het
Tmod3	A	G	9: 75,509,363	V229A	probably damaging	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Unc45b	G	A	11: 82,911,689	A4T	probably benign	Het
Usp40	A	G	1: 87,950,214	I1117T	probably benign	Het
Vcan	T	A	13: 89,693,303	D414V	probably damaging	Het
Xrn1	C	A	9: 96,039,832	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,082,968		noncoding transcript	Het
Zfp74	G	A	7: 29,935,018	Q422*	probably null	Het
Zmym3	A	T	X: 101,407,387	V1208D	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	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
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

Predicted Primers

PCR Primer
(F):5'- GGAACTATTGATACTGTGCCATTTC -3'
(R):5'- GGAGTCAGCTGTCACACTATG -3'

Sequencing Primer
(F):5'- AAAACGTGGATGCTTTTCTTCCTG -3'
(R):5'- GAGTCAGCTGTCACACTATGGTTTAC -3'

Posted On

2014-09-18