Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01607:Etaa1'

92303

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 #

IGL01607

Quality Score

Status

Chromosome

Chromosomal Location

17888756-17903875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17903637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 53 (L53P)

Ref Sequence

ENSEMBL: ENSMUSP00000075957 (fasta)

Gene Model

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

AlphaFold

Q5SVT3

Predicted Effect

probably benign
Transcript: ENSMUST00000076661
AA Change: L53P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: L53P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148496

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,243,823 (GRCm39)	K556E	possibly damaging	Het
Adgre4	A	C	17: 56,101,748 (GRCm39)		probably benign	Het
Ajap1	C	T	4: 153,516,736 (GRCm39)	G202S	probably damaging	Het
Catsperb	G	T	12: 101,446,985 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,200,778 (GRCm39)	D393V	probably benign	Het
Cfap74	A	G	4: 155,503,443 (GRCm39)	T95A	possibly damaging	Het
Dis3l2	A	G	1: 86,673,209 (GRCm39)	T67A	probably benign	Het
Dnaja3	T	C	16: 4,511,259 (GRCm39)	F205L	probably damaging	Het
Dsc1	C	T	18: 20,222,720 (GRCm39)	C584Y	probably damaging	Het
Duox2	C	A	2: 122,122,800 (GRCm39)	V545L	probably benign	Het
Gm14184	C	T	11: 99,590,490 (GRCm39)	C4Y	unknown	Het
Inpp4b	C	T	8: 82,737,292 (GRCm39)	A563V	probably benign	Het
Kcnc3	A	G	7: 44,240,728 (GRCm39)	D140G	probably damaging	Het
Ly6a	A	T	15: 74,867,262 (GRCm39)	M85K	probably benign	Het
Map4k2	C	T	19: 6,395,623 (GRCm39)		probably null	Het
Mttp	T	C	3: 137,810,459 (GRCm39)	Y652C	probably damaging	Het
Neu1	A	T	17: 35,153,692 (GRCm39)	N372I	probably benign	Het
Nuak2	G	A	1: 132,255,878 (GRCm39)	V184I	probably damaging	Het
Phf11a	T	C	14: 59,524,950 (GRCm39)	I85V	probably damaging	Het
Polr2e	C	A	10: 79,875,467 (GRCm39)	D3Y	probably damaging	Het
Ralb	A	G	1: 119,411,279 (GRCm39)	V20A	probably damaging	Het
Rln1	A	T	19: 29,309,260 (GRCm39)	V173D	probably benign	Het
Stk38l	T	A	6: 146,673,152 (GRCm39)	C304S	probably damaging	Het
Stk38l	T	C	6: 146,673,725 (GRCm39)		probably benign	Het
Tjp1	G	T	7: 64,985,926 (GRCm39)	D288E	possibly damaging	Het
Trpm3	A	G	19: 22,964,491 (GRCm39)	I1319V	probably benign	Het
Zic2	T	G	14: 122,716,294 (GRCm39)		probably benign	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
IGL01312:Etaa1	APN	11	17,895,909 (GRCm39)	missense	probably damaging	1.00
IGL01391:Etaa1	APN	11	17,896,005 (GRCm39)	missense	probably damaging	1.00
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

2013-12-09