Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Ercc6l2'

366657

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63963054-64048116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63982552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 244 (I244S)

Ref Sequence

ENSEMBL: ENSMUSP00000021925 (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: I244S

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

SMART Domains

Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: I244S

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: I129S

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

SMART Domains

Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: I129S

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: I244S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: I244S

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: I122S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115796
Gene: ENSMUSG00000021470
AA Change: I122S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143449
AA Change: I244S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: I244S

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: I244S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 96.9%
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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,278,096 (GRCm39)	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Abtb2	A	T	2: 103,547,644 (GRCm39)	D1006V	probably benign	Het
Abtb3	A	C	10: 85,490,414 (GRCm39)	I1027L	probably damaging	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,863 (GRCm39)		probably benign	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Amotl2	T	G	9: 102,597,322 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,574,813 (GRCm39)	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,557,420 (GRCm39)		probably null	Het
Appl2	A	T	10: 83,436,855 (GRCm39)	D635E	probably damaging	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,440,843 (GRCm39)	M496T	probably benign	Het
Atp2c2	A	G	8: 120,475,891 (GRCm39)	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,295,238 (GRCm39)	H204R	probably damaging	Het
Atr	G	A	9: 95,744,850 (GRCm39)	V56I	probably benign	Het
Bod1l	G	A	5: 41,991,006 (GRCm39)	T183I	probably benign	Het
Ccdc168	T	C	1: 44,098,203 (GRCm39)	D965G	possibly damaging	Het
Ccdc171	A	T	4: 83,599,253 (GRCm39)	E689D	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cert1	T	C	13: 96,748,773 (GRCm39)	V281A	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,673,774 (GRCm39)	T981S	unknown	Het
Cpox	G	A	16: 58,492,986 (GRCm39)	A207T	probably damaging	Het
Cym	G	A	3: 107,123,413 (GRCm39)	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddx4	C	T	13: 112,750,230 (GRCm39)		probably null	Het
Ddx4	A	T	13: 112,787,894 (GRCm39)	V15E	probably benign	Het
Depdc1a	G	A	3: 159,232,273 (GRCm39)	E675K	probably damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Dlg4	C	T	11: 69,917,780 (GRCm39)	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,996,059 (GRCm39)	N395I	probably damaging	Het
Dzank1	A	T	2: 144,346,319 (GRCm39)	C249S	probably damaging	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Ewsr1	A	T	11: 5,020,423 (GRCm39)	M584K	unknown	Het
Fam193b	A	G	13: 55,691,284 (GRCm39)	S197P	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbxo31	A	T	8: 122,279,178 (GRCm39)	Y436*	probably null	Het
Fbxo31	A	G	8: 122,279,180 (GRCm39)	Y436H	probably damaging	Het
Fcna	T	A	2: 25,515,338 (GRCm39)	D215V	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gcnt4	A	T	13: 97,083,914 (GRCm39)	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,653,870 (GRCm39)	T126A	probably benign	Het
Ggcx	A	G	6: 72,405,875 (GRCm39)	K569E	probably benign	Het
Gm10250	C	T	15: 5,150,578 (GRCm39)		probably benign	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Ifi44	G	A	3: 151,451,229 (GRCm39)	P241S	probably damaging	Het
Irs1	T	C	1: 82,265,184 (GRCm39)	T1011A	probably benign	Het
Jag2	A	T	12: 112,877,869 (GRCm39)	S595T	probably benign	Het
Kif5a	T	A	10: 127,066,823 (GRCm39)	Q960L	probably benign	Het
Kifc2	A	G	15: 76,548,548 (GRCm39)	E430G	possibly damaging	Het
Lama3	T	A	18: 12,544,627 (GRCm39)	C323*	probably null	Het
Lgsn	T	C	1: 31,242,823 (GRCm39)	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrpap1	A	G	5: 35,256,622 (GRCm39)	V120A	probably damaging	Het
Macrod2	T	A	2: 140,261,858 (GRCm39)	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,822,283 (GRCm39)	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,792,293 (GRCm39)		probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Ngb	G	A	12: 87,146,999 (GRCm39)	H73Y	probably benign	Het
Npepps	G	A	11: 97,117,652 (GRCm39)	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,199,923 (GRCm39)	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,041,137 (GRCm39)	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,155,368 (GRCm39)		probably null	Het
Or1e31	C	T	11: 73,689,665 (GRCm39)	C306Y	probably benign	Het
Or2y16	T	A	11: 49,334,696 (GRCm39)	F6Y	probably benign	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or51h1	T	A	7: 102,308,041 (GRCm39)	N4K	possibly damaging	Het
Or5an1c	C	T	19: 12,218,936 (GRCm39)	V30I	probably benign	Het
Or8b46	A	G	9: 38,450,371 (GRCm39)	Y60C	probably damaging	Het
Parp6	A	G	9: 59,542,267 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,411 (GRCm39)	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,133,757 (GRCm39)	E548G	probably damaging	Het
Polrmt	G	T	10: 79,575,357 (GRCm39)	H725N	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Prtn3	C	A	10: 79,717,899 (GRCm39)	P169H	probably damaging	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprh	A	T	7: 4,572,576 (GRCm39)	H467Q	probably benign	Het
Raph1	A	T	1: 60,528,273 (GRCm39)	I996N	probably damaging	Het
Rasa4	G	A	5: 136,120,083 (GRCm39)	W53*	probably null	Het
Rasgrp1	C	T	2: 117,115,356 (GRCm39)	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,390,333 (GRCm39)	E141G	probably damaging	Het
Rps12	T	C	10: 23,662,688 (GRCm39)	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,451,976 (GRCm39)	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Setx	G	A	2: 29,034,058 (GRCm39)	R332Q	probably damaging	Het
Siglec1	A	C	2: 130,917,843 (GRCm39)	S1011R	probably damaging	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Slc11a1	T	G	1: 74,423,247 (GRCm39)	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Slc30a1	A	C	1: 191,641,160 (GRCm39)	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,923,364 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spta1	A	T	1: 174,058,232 (GRCm39)	Q1900L	probably benign	Het
Srgn	C	T	10: 62,333,631 (GRCm39)	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,353,411 (GRCm39)	C238G	probably damaging	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Thra	G	A	11: 98,646,990 (GRCm39)	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845 (GRCm39)	D246G	probably damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Usp10	A	G	8: 120,667,930 (GRCm39)	Y77C	probably benign	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,740,867 (GRCm39)	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,369,370 (GRCm39)	I68V	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Wsb1	A	G	11: 79,131,199 (GRCm39)	M399T	probably benign	Het
Xbp1	C	T	11: 5,471,167 (GRCm39)	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,032,929 (GRCm39)	D577E	probably benign	Het
Zfp366	A	G	13: 99,382,991 (GRCm39)	D718G	probably damaging	Het
Zfp408	A	T	2: 91,475,369 (GRCm39)	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,934,322 (GRCm39)	W60R	probably null	Het
Zfp606	A	T	7: 12,227,932 (GRCm39)	K626N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	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
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
R5268:Ercc6l2	UTSW	13	64,016,925 (GRCm39)	missense	possibly damaging	0.92
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'- CAGTGGAACTATTGATACTGTGCC -3'
(R):5'- CAGCTGTCACACTATGGTTTACAAC -3'

Sequencing Primer
(F):5'- GGAACTATTGATACTGTGCCATTTC -3'
(R):5'- GGTTTACAACCCTGACATGAAAATC -3'

Posted On

2015-12-29