Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02483:Ercc6l'

295311

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ercc6l

Ensembl Gene

ENSMUSG00000051220

Gene Name

excision repair cross-complementing rodent repair deficiency complementation group 6 like

Synonyms

D330021P09Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02483

Quality Score

Status

Chromosome

Chromosomal Location

101186426-101200697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101188275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 745 (T745A)

Ref Sequence

ENSEMBL: ENSMUSP00000050592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056904]

AlphaFold

Q8BHK9

Predicted Effect

probably benign
Transcript: ENSMUST00000056904
AA Change: T745A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050592
Gene: ENSMUSG00000051220
AA Change: T745A

Domain	Start	End	E-Value	Type
low complexity region	63	78	N/A	INTRINSIC
DEXDc	93	290	7.26e-33	SMART
HELICc	493	577	2.93e-19	SMART
low complexity region	1022	1030	N/A	INTRINSIC
low complexity region	1080	1093	N/A	INTRINSIC
low complexity region	1110	1128	N/A	INTRINSIC
low complexity region	1168	1182	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	G	8: 84,451,882 (GRCm39)	I512L	probably damaging	Het
Ahnak	C	A	19: 8,980,672 (GRCm39)	T652N	probably benign	Het
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Arnt2	T	A	7: 83,900,605 (GRCm39)	H659L	probably damaging	Het
Cad	A	G	5: 31,218,170 (GRCm39)		probably null	Het
Car6	T	A	4: 150,280,586 (GRCm39)	N86I	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Cyp2c39	T	A	19: 39,525,231 (GRCm39)	I178N	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Fmo4	A	G	1: 162,635,990 (GRCm39)	V54A	possibly damaging	Het
Foxd3	C	T	4: 99,545,265 (GRCm39)	S135F	probably damaging	Het
Fut7	T	A	2: 25,313,888 (GRCm39)	F21Y	possibly damaging	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gm4950	A	T	18: 51,998,406 (GRCm39)	M183K	probably damaging	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Hpd	A	T	5: 123,320,641 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,356 (GRCm39)		probably null	Het
Itgbl1	A	T	14: 124,065,155 (GRCm39)		probably benign	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kdr	C	T	5: 76,096,954 (GRCm39)		probably null	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Lrrc28	T	C	7: 67,267,731 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Map3k8	A	G	18: 4,349,318 (GRCm39)		probably benign	Het
Mcm3	A	G	1: 20,873,796 (GRCm39)	S775P	possibly damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Nbas	C	T	12: 13,374,295 (GRCm39)	A541V	probably damaging	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Oma1	C	T	4: 103,182,309 (GRCm39)	R271*	probably null	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4c111	G	T	2: 88,843,547 (GRCm39)	T287N	probably damaging	Het
Plekhh2	T	C	17: 84,903,688 (GRCm39)	F1058S	possibly damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Psme3ip1	A	G	8: 95,315,394 (GRCm39)		probably benign	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Rgs12	A	G	5: 35,187,861 (GRCm39)	E506G	probably damaging	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Sfr1	G	A	19: 47,721,227 (GRCm39)		probably benign	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Tmem184a	T	C	5: 139,798,832 (GRCm39)	E39G	probably benign	Het
Trim66	C	T	7: 109,076,837 (GRCm39)		probably benign	Het
Ugt2b35	A	G	5: 87,149,004 (GRCm39)	Y85C	possibly damaging	Het
Uts2r	G	T	11: 121,051,213 (GRCm39)	G26C	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het

Other mutations in Ercc6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02145:Ercc6l	APN	X	101,189,148 (GRCm39)	missense	probably benign
IGL02481:Ercc6l	APN	X	101,188,275 (GRCm39)	missense	probably benign

Posted On

2015-04-16