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, 1700019D06Rik, 9330134C04Rik

Accession Numbers

Is this an essential gene?

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

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63815240-63900302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63853017 bp (GRCm38)

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
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
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
Z1088:Ercc6l2	UTSW	13	63853728	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