Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Etaa1'

542916

Institutional Source

Beutler Lab

Gene Symbol

Etaa1

Ensembl Gene

ENSMUSG00000016984

Gene Name

Ewing tumor-associated antigen 1

Synonyms

5730466H23Rik

MMRRC Submission

045092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17888756-17903875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17896108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 670 (S670P)

Ref Sequence

ENSEMBL: ENSMUSP00000075957 (fasta)

Gene Model

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

AlphaFold

Q5SVT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076661
AA Change: S670P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: S670P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin1	A	G	4: 123,630,649 (GRCm39)	*192R	probably null	Het
Ankar	A	C	1: 72,697,641 (GRCm39)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,521,636 (GRCm39)	A20E	unknown	Het
Arhgap1	T	A	2: 91,498,543 (GRCm39)	Y147N	probably damaging	Het
Arid2	T	C	15: 96,268,029 (GRCm39)	V714A	probably benign	Het
Arrdc3	T	C	13: 81,031,776 (GRCm39)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,799,830 (GRCm39)	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,437,095 (GRCm39)	R98G	probably damaging	Het
Capn10	T	C	1: 92,871,146 (GRCm39)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,709,529 (GRCm39)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,309,560 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,460,757 (GRCm39)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,656,378 (GRCm39)	N893S	probably benign	Het
Ctsh	G	A	9: 89,936,657 (GRCm39)	A19T	possibly damaging	Het
Cttn	C	A	7: 144,006,324 (GRCm39)	E214*	probably null	Het
Des	A	G	1: 75,343,431 (GRCm39)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,615,679 (GRCm39)	V109A	probably benign	Het
Dock1	A	G	7: 134,765,132 (GRCm39)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,229,934 (GRCm39)	I2184T	probably benign	Het
Enc1	C	T	13: 97,381,628 (GRCm39)	T46I	possibly damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,201,460 (GRCm39)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,296,957 (GRCm39)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,892,785 (GRCm39)	E744Q	probably null	Het
Gmps	T	A	3: 63,922,960 (GRCm39)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,276,670 (GRCm39)	Y152F	probably damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Herc2	A	G	7: 55,782,228 (GRCm39)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,860,252 (GRCm39)	T14A	probably benign	Het
Insr	T	A	8: 3,211,372 (GRCm39)	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,154,731 (GRCm39)	G127C	probably damaging	Het
Krt10	T	C	11: 99,276,456 (GRCm39)	N65S	possibly damaging	Het
Lrig3	A	G	10: 125,850,738 (GRCm39)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,022,274 (GRCm39)	N306H	probably benign	Het
Map4k3	A	G	17: 80,944,161 (GRCm39)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,322,122 (GRCm39)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,315,594 (GRCm39)	L60S	probably damaging	Het
Muc4	A	T	16: 32,570,817 (GRCm39)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,444,117 (GRCm39)	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,786,432 (GRCm39)	F442L	possibly damaging	Het
Naa35	T	A	13: 59,775,757 (GRCm39)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,531,275 (GRCm39)	V645E	probably damaging	Het
Or52z14	A	G	7: 103,252,875 (GRCm39)	T5A	probably benign	Het
Or5af2	T	C	11: 58,707,939 (GRCm39)	F35S	probably damaging	Het
Otx1	A	T	11: 21,946,615 (GRCm39)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,630,211 (GRCm39)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,017,223 (GRCm39)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,214,643 (GRCm39)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm39)	D354A	probably benign	Het
Prtg	T	G	9: 72,758,783 (GRCm39)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,595,504 (GRCm39)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,958,555 (GRCm39)	S71G	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Shank1	A	G	7: 43,994,337 (GRCm39)	I833V	unknown	Het
Slc35f1	C	A	10: 52,898,007 (GRCm39)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,879,429 (GRCm39)	I36F	probably benign	Het
Sstr4	T	A	2: 148,238,169 (GRCm39)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trat1	A	G	16: 48,574,634 (GRCm39)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,828,075 (GRCm39)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 32,821,074 (GRCm39)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,778,530 (GRCm39)	D7G	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCTATTCACTTGTACTGGTC -3'
(R):5'- TGGTTGAAGCATGCCATCG -3'

Sequencing Primer
(F):5'- GTACTGGTCCACGCTTATTATCAC -3'
(R):5'- ATGCCATCGGTTAGAGGCTAC -3'

Posted On

2018-11-28