Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Ercc6l2'

399977

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, 9330134C04Rik, 1700019D06Rik

MMRRC Submission

042860-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63963054-64048116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64016925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 676 (L676P)

Ref Sequence

ENSEMBL: ENSMUSP00000069488 (fasta)

Gene Model

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

AlphaFold

Q9JIM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067821
AA Change: L676P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: L676P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adamtsl4	C	A	3: 95,587,473 (GRCm39)	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,099 (GRCm39)	V623I	probably benign	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Crb2	T	C	2: 37,680,833 (GRCm39)	V587A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ibtk	A	T	9: 85,625,743 (GRCm39)	D2E	probably benign	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or6a2	T	A	7: 106,600,111 (GRCm39)	N319Y	probably benign	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pamr1	G	A	2: 102,417,029 (GRCm39)	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	probably benign	Het

Other mutations in Ercc6l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Ercc6l2	APN	13	64,006,133 (GRCm39)	missense	probably damaging	0.99
IGL00678:Ercc6l2	APN	13	63,992,427 (GRCm39)	missense	probably damaging	1.00
IGL00765:Ercc6l2	APN	13	63,996,586 (GRCm39)	missense	possibly damaging	0.95
IGL01062:Ercc6l2	APN	13	63,995,268 (GRCm39)	missense	probably null	1.00
IGL01655:Ercc6l2	APN	13	63,967,566 (GRCm39)	nonsense	probably null
IGL02175:Ercc6l2	APN	13	64,017,004 (GRCm39)	utr 3 prime	probably benign
IGL02201:Ercc6l2	APN	13	64,000,783 (GRCm39)	missense	probably benign	0.12
IGL02351:Ercc6l2	APN	13	64,001,497 (GRCm39)	missense	probably damaging	1.00
IGL02358:Ercc6l2	APN	13	64,001,497 (GRCm39)	missense	probably damaging	1.00
IGL02622:Ercc6l2	APN	13	64,001,437 (GRCm39)	splice site	probably null
PIT4812001:Ercc6l2	UTSW	13	64,006,071 (GRCm39)	missense	possibly damaging	0.58
R0142:Ercc6l2	UTSW	13	64,020,320 (GRCm39)	unclassified	probably benign
R0648:Ercc6l2	UTSW	13	63,992,459 (GRCm39)	missense	probably benign	0.04
R1136:Ercc6l2	UTSW	13	64,016,934 (GRCm39)	missense	possibly damaging	0.75
R1536:Ercc6l2	UTSW	13	63,972,685 (GRCm39)	missense	possibly damaging	0.81
R1706:Ercc6l2	UTSW	13	64,020,272 (GRCm39)	unclassified	probably benign
R2108:Ercc6l2	UTSW	13	64,019,802 (GRCm39)	unclassified	probably benign
R2111:Ercc6l2	UTSW	13	63,982,563 (GRCm39)	missense	probably damaging	1.00
R2126:Ercc6l2	UTSW	13	63,996,585 (GRCm39)	missense	probably damaging	1.00
R2154:Ercc6l2	UTSW	13	64,013,821 (GRCm39)	missense	probably damaging	1.00
R3551:Ercc6l2	UTSW	13	63,992,409 (GRCm39)	missense	probably damaging	1.00
R3773:Ercc6l2	UTSW	13	63,989,264 (GRCm39)	missense	probably damaging	1.00
R3923:Ercc6l2	UTSW	13	64,018,549 (GRCm39)	unclassified	probably benign
R4233:Ercc6l2	UTSW	13	64,019,982 (GRCm39)	unclassified	probably benign
R4782:Ercc6l2	UTSW	13	63,982,552 (GRCm39)	missense	probably damaging	1.00
R4928:Ercc6l2	UTSW	13	64,042,627 (GRCm39)	utr 3 prime	probably benign
R5163:Ercc6l2	UTSW	13	64,046,845 (GRCm39)	utr 3 prime	probably benign
R5423:Ercc6l2	UTSW	13	64,020,072 (GRCm39)	unclassified	probably benign
R6128:Ercc6l2	UTSW	13	64,001,563 (GRCm39)	missense	probably damaging	0.98
R6164:Ercc6l2	UTSW	13	64,020,158 (GRCm39)	unclassified	probably benign
R7238:Ercc6l2	UTSW	13	64,013,798 (GRCm39)	missense	probably damaging	0.98
R7295:Ercc6l2	UTSW	13	63,967,589 (GRCm39)	missense	probably damaging	0.96
R7708:Ercc6l2	UTSW	13	63,989,328 (GRCm39)	nonsense	probably null
R8085:Ercc6l2	UTSW	13	63,992,367 (GRCm39)	missense	probably benign	0.00
R8131:Ercc6l2	UTSW	13	63,982,561 (GRCm39)	missense	probably damaging	1.00
R8259:Ercc6l2	UTSW	13	64,020,285 (GRCm39)	missense
R8372:Ercc6l2	UTSW	13	64,001,563 (GRCm39)	missense	probably damaging	0.98
R8479:Ercc6l2	UTSW	13	63,972,629 (GRCm39)	missense	possibly damaging	0.95
R9034:Ercc6l2	UTSW	13	63,992,447 (GRCm39)	missense	probably damaging	0.97
R9065:Ercc6l2	UTSW	13	63,967,866 (GRCm39)	missense	possibly damaging	0.93
R9557:Ercc6l2	UTSW	13	63,989,936 (GRCm39)	missense	probably damaging	1.00
R9700:Ercc6l2	UTSW	13	63,967,525 (GRCm39)	missense	probably benign	0.32
R9763:Ercc6l2	UTSW	13	63,982,438 (GRCm39)	missense	probably damaging	1.00
RF013:Ercc6l2	UTSW	13	64,000,831 (GRCm39)	missense	probably benign	0.06
Z1088:Ercc6l2	UTSW	13	64,001,542 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CCAGCTAAAGTTGTGTGTATGC -3'
(R):5'- GGCTTTGAGGTAAAATTCATTTCCC -3'

Sequencing Primer
(F):5'- CAGGGAGTGCCAGGAAATTCTG -3'
(R):5'- TGAGGTAAAATTCATTTCCCACTTC -3'

Posted On

2016-07-06