Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Ercc6l2'

57369

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

038833-MU

Accession Numbers

Essential gene?

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

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63963054-64048116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63992459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 303 (T303A)

Ref Sequence

ENSEMBL: ENSMUSP00000021926 (fasta)

Gene Model

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

AlphaFold

Q9JIM3

Predicted Effect

probably benign
Transcript: ENSMUST00000021925
AA Change: T418A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: T418A

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: T303A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: T303A

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: T418A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: T418A

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: ENSMUST00000142827

SMART Domains

Protein: ENSMUSP00000115796
Gene: ENSMUSG00000021470

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 benign
Transcript: ENSMUST00000143449
AA Change: T418A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: T418A

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

noncoding transcript
Transcript: ENSMUST00000222855

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

0.0577

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,225,934 (GRCm39)	I87V	probably benign	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Bcor	C	T	X: 11,925,290 (GRCm39)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dennd2d	A	G	3: 106,407,871 (GRCm39)	I450M	probably damaging	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,775,706 (GRCm39)	N383K	probably damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Rph3a	C	T	5: 121,097,333 (GRCm39)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tctn1	C	T	5: 122,389,761 (GRCm39)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	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
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
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'- TGGTCAAATCCAGTGCCCGTTGTG -3'
(R):5'- AAGAGCCAGTTCCTGCCTTCTACC -3'

Sequencing Primer
(F):5'- GACTTCCAGAAAGCTGTCTACC -3'
(R):5'- TTTAATGCACCCCAGGTGG -3'

Posted On

2013-07-11