Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01312:Etaa1'

73710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Etaa1

Ensembl Gene

ENSMUSG00000016984

Gene Name

Ewing tumor-associated antigen 1

Synonyms

5730466H23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01312

Quality Score

Status

Chromosome

Chromosomal Location

17888756-17903875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17895909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 736 (L736S)

Ref Sequence

ENSEMBL: ENSMUSP00000075957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076661]

AlphaFold

Q5SVT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076661
AA Change: L736S

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

SMART Domains

Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: L736S

Domain	Start	End	E-Value	Type
low complexity region	52	74	N/A	INTRINSIC
Pfam:ETAA1	79	865	N/A	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	G	T	5: 110,382,218 (GRCm39)	V65L	probably benign	Het
C3	G	A	17: 57,532,993 (GRCm39)		probably benign	Het
Colgalt1	G	A	8: 72,075,420 (GRCm39)	R442H	probably damaging	Het
Epb41l2	A	G	10: 25,317,485 (GRCm39)	M1V	probably null	Het
Foxm1	T	C	6: 128,350,337 (GRCm39)	F546S	probably damaging	Het
Fscn3	T	C	6: 28,434,469 (GRCm39)	I348T	probably damaging	Het
Garre1	A	T	7: 33,955,933 (GRCm39)	D385E	probably benign	Het
Gcm2	T	C	13: 41,256,607 (GRCm39)	T381A	probably damaging	Het
Nup153	T	C	13: 46,840,300 (GRCm39)	T1103A	probably benign	Het
Or10ag59	A	G	2: 87,405,518 (GRCm39)	Q30R	probably damaging	Het
Pde7b	A	G	10: 20,311,940 (GRCm39)		probably null	Het
Shld2	T	C	14: 33,990,150 (GRCm39)	D252G	possibly damaging	Het
St7	T	A	6: 17,922,013 (GRCm39)	I361N	probably damaging	Het
Stard5	C	T	7: 83,282,397 (GRCm39)	P70L	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tas2r134	T	A	2: 51,518,247 (GRCm39)	L242H	probably damaging	Het
Tnrc6b	G	A	15: 80,807,779 (GRCm39)	R1577H	probably damaging	Het
Trappc11	C	A	8: 47,958,712 (GRCm39)	A716S	possibly damaging	Het
Wdr35	C	T	12: 9,058,655 (GRCm39)	T604M	probably damaging	Het
Zbtb24	T	G	10: 41,327,885 (GRCm39)	I257S	possibly damaging	Het

Other mutations in Etaa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Etaa1	APN	11	17,897,825 (GRCm39)	nonsense	probably null
IGL00555:Etaa1	APN	11	17,897,535 (GRCm39)	missense	probably damaging	1.00
IGL01098:Etaa1	APN	11	17,896,059 (GRCm39)	missense	probably damaging	0.99
IGL01100:Etaa1	APN	11	17,902,576 (GRCm39)	critical splice donor site	probably null
IGL01391:Etaa1	APN	11	17,896,005 (GRCm39)	missense	probably damaging	1.00
IGL01607:Etaa1	APN	11	17,903,637 (GRCm39)	missense	probably benign	0.00
IGL02066:Etaa1	APN	11	17,896,687 (GRCm39)	missense	probably benign
R0401:Etaa1	UTSW	11	17,897,514 (GRCm39)	missense	probably damaging	1.00
R0413:Etaa1	UTSW	11	17,896,350 (GRCm39)	nonsense	probably null
R0790:Etaa1	UTSW	11	17,896,051 (GRCm39)	missense	probably benign	0.00
R1442:Etaa1	UTSW	11	17,897,201 (GRCm39)	missense	probably benign	0.19
R1447:Etaa1	UTSW	11	17,896,625 (GRCm39)	missense	possibly damaging	0.92
R1647:Etaa1	UTSW	11	17,896,492 (GRCm39)	missense	probably damaging	0.99
R1945:Etaa1	UTSW	11	17,897,233 (GRCm39)	missense	probably damaging	0.96
R1996:Etaa1	UTSW	11	17,902,671 (GRCm39)	missense	probably damaging	1.00
R2211:Etaa1	UTSW	11	17,902,686 (GRCm39)	nonsense	probably null
R2338:Etaa1	UTSW	11	17,895,605 (GRCm39)	critical splice donor site	probably null
R3027:Etaa1	UTSW	11	17,897,886 (GRCm39)	missense	probably damaging	1.00
R3546:Etaa1	UTSW	11	17,903,823 (GRCm39)	start gained	probably benign
R4118:Etaa1	UTSW	11	17,896,180 (GRCm39)	missense	probably benign	0.18
R4156:Etaa1	UTSW	11	17,890,281 (GRCm39)	missense	probably damaging	1.00
R4657:Etaa1	UTSW	11	17,896,964 (GRCm39)	missense	possibly damaging	0.81
R4882:Etaa1	UTSW	11	17,896,174 (GRCm39)	missense	probably benign	0.10
R4914:Etaa1	UTSW	11	17,896,532 (GRCm39)	missense	probably benign	0.05
R4978:Etaa1	UTSW	11	17,896,581 (GRCm39)	missense	probably damaging	0.99
R5202:Etaa1	UTSW	11	17,897,853 (GRCm39)	missense	probably damaging	1.00
R5384:Etaa1	UTSW	11	17,897,539 (GRCm39)	missense	probably damaging	1.00
R5584:Etaa1	UTSW	11	17,897,406 (GRCm39)	missense	possibly damaging	0.72
R6303:Etaa1	UTSW	11	17,897,505 (GRCm39)	missense	probably damaging	1.00
R6304:Etaa1	UTSW	11	17,897,505 (GRCm39)	missense	probably damaging	1.00
R6351:Etaa1	UTSW	11	17,897,188 (GRCm39)	missense	possibly damaging	0.95
R6391:Etaa1	UTSW	11	17,896,833 (GRCm39)	missense	probably benign	0.04
R6685:Etaa1	UTSW	11	17,903,582 (GRCm39)	missense	probably benign	0.40
R6705:Etaa1	UTSW	11	17,895,639 (GRCm39)	missense	probably benign	0.02
R6807:Etaa1	UTSW	11	17,902,680 (GRCm39)	missense	probably benign
R6863:Etaa1	UTSW	11	17,903,794 (GRCm39)	start codon destroyed	probably benign	0.01
R6985:Etaa1	UTSW	11	17,896,108 (GRCm39)	missense	probably damaging	0.99
R7129:Etaa1	UTSW	11	17,890,339 (GRCm39)	missense	possibly damaging	0.92
R7429:Etaa1	UTSW	11	17,890,281 (GRCm39)	missense	probably damaging	1.00
R8093:Etaa1	UTSW	11	17,897,559 (GRCm39)	missense	possibly damaging	0.92
R8220:Etaa1	UTSW	11	17,895,690 (GRCm39)	missense	probably benign	0.01
R8512:Etaa1	UTSW	11	17,897,442 (GRCm39)	missense	probably damaging	1.00
R8984:Etaa1	UTSW	11	17,890,254 (GRCm39)	missense	probably damaging	1.00
R9053:Etaa1	UTSW	11	17,895,798 (GRCm39)	missense	probably benign	0.01
R9177:Etaa1	UTSW	11	17,896,419 (GRCm39)	missense	probably damaging	1.00
R9211:Etaa1	UTSW	11	17,896,053 (GRCm39)	missense	possibly damaging	0.85
R9268:Etaa1	UTSW	11	17,896,419 (GRCm39)	missense	probably damaging	1.00
Z1088:Etaa1	UTSW	11	17,896,465 (GRCm39)	missense	possibly damaging	0.74

Posted On

2013-10-07