Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Ercc6l2'

603361

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 #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63963054-64048116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64000831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 417 (T417S)

Ref Sequence

ENSEMBL: ENSMUSP00000021926 (fasta)

Gene Model

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

AlphaFold

Q9JIM3

Predicted Effect

probably benign
Transcript: ENSMUST00000021925

SMART Domains

Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470

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 benign
Transcript: ENSMUST00000021926
AA Change: T417S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: T417S

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 benign
Transcript: ENSMUST00000067821
AA Change: T532S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: T532S

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: 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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	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
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
Z1088:Ercc6l2	UTSW	13	64,001,542 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGGGAACTTTACCACCTTACTG -3'
(R):5'- GCCATCCCTGTCTATAGCAC -3'

Sequencing Primer
(F):5'- CAGGATGATAAATAGCATTTGGTGTG -3'
(R):5'- CATAACTAAATGTGCTGGAAAGGTC -3'

Posted On

2019-12-04