Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:Ewsr1'

234995

Institutional Source

Beutler Lab

Gene Symbol

Ewsr1

Ensembl Gene

ENSMUSG00000009079

Gene Name

Ewing sarcoma breakpoint region 1

Synonyms

Ews

MMRRC Submission

040161-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5019689-5049266 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5041450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063232] [ENSMUST00000073308] [ENSMUST00000079949] [ENSMUST00000093365] [ENSMUST00000102930]

AlphaFold

Q61545

Predicted Effect

unknown
Transcript: ENSMUST00000063232
AA Change: I85T

SMART Domains

Protein: ENSMUSP00000066827
Gene: ENSMUSG00000009079
AA Change: I85T

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
low complexity region	51	71	N/A	INTRINSIC
low complexity region	78	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073308

SMART Domains

Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	5.91e-6	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	91	121	N/A	INTRINSIC
internal_repeat_1	155	170	5.91e-6	PROSPERO
low complexity region	187	211	N/A	INTRINSIC
low complexity region	213	266	N/A	INTRINSIC
low complexity region	296	315	N/A	INTRINSIC
RRM	324	405	8.38e-17	SMART
low complexity region	416	475	N/A	INTRINSIC
ZnF_RBZ	482	508	6.22e-7	SMART
low complexity region	512	586	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079949

SMART Domains

Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	2.98e-6	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	91	121	N/A	INTRINSIC
internal_repeat_1	155	170	2.98e-6	PROSPERO
low complexity region	187	211	N/A	INTRINSIC
low complexity region	213	266	N/A	INTRINSIC
low complexity region	300	331	N/A	INTRINSIC
low complexity region	335	356	N/A	INTRINSIC
RRM	361	442	8.38e-17	SMART
low complexity region	453	512	N/A	INTRINSIC
ZnF_RBZ	519	545	6.22e-7	SMART
low complexity region	549	623	N/A	INTRINSIC
low complexity region	629	639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093365

SMART Domains

Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	2.29e-5	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	91	121	N/A	INTRINSIC
internal_repeat_1	155	170	2.29e-5	PROSPERO
low complexity region	187	211	N/A	INTRINSIC
low complexity region	213	266	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102930

SMART Domains

Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	3.23e-6	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	97	127	N/A	INTRINSIC
internal_repeat_1	161	176	3.23e-6	PROSPERO
low complexity region	193	217	N/A	INTRINSIC
low complexity region	219	272	N/A	INTRINSIC
low complexity region	306	337	N/A	INTRINSIC
low complexity region	341	362	N/A	INTRINSIC
RRM	367	448	8.38e-17	SMART
low complexity region	459	518	N/A	INTRINSIC
ZnF_RBZ	525	551	6.22e-7	SMART
low complexity region	555	629	N/A	INTRINSIC
low complexity region	635	645	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151847

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit postnatal lethality, defective pre-B cell development, apoptosis of gametes and arrest in gamete maturation due to reduced meiotic recombination leading to infertility, kyphosis, lymphopenia, muscular atrophy, and hypersensitivity to ionizing radiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,766,608 (GRCm39)	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,318,297 (GRCm39)	D1019V	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Fn3k	A	T	11: 121,339,712 (GRCm39)	N158I	probably damaging	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hormad2	T	A	11: 4,374,808 (GRCm39)	K69*	probably null	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly damaging	Het

Other mutations in Ewsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02000:Ewsr1	APN	11	5,038,077 (GRCm39)	missense	probably damaging	1.00
IGL02218:Ewsr1	APN	11	5,020,668 (GRCm39)	missense	unknown
IGL02288:Ewsr1	APN	11	5,043,689 (GRCm39)	missense	possibly damaging	0.53
IGL02410:Ewsr1	APN	11	5,043,863 (GRCm39)	splice site	probably benign
R0485:Ewsr1	UTSW	11	5,020,737 (GRCm39)	splice site	probably benign
R0570:Ewsr1	UTSW	11	5,035,935 (GRCm39)	missense	possibly damaging	0.80
R1546:Ewsr1	UTSW	11	5,028,574 (GRCm39)	unclassified	probably benign
R1688:Ewsr1	UTSW	11	5,022,870 (GRCm39)	missense	unknown
R2074:Ewsr1	UTSW	11	5,021,555 (GRCm39)	missense	unknown
R2326:Ewsr1	UTSW	11	5,041,857 (GRCm39)	critical splice donor site	probably null
R2880:Ewsr1	UTSW	11	5,028,523 (GRCm39)	unclassified	probably benign
R2881:Ewsr1	UTSW	11	5,028,523 (GRCm39)	unclassified	probably benign
R2882:Ewsr1	UTSW	11	5,028,523 (GRCm39)	unclassified	probably benign
R3965:Ewsr1	UTSW	11	5,033,476 (GRCm39)	missense	unknown
R4743:Ewsr1	UTSW	11	5,033,541 (GRCm39)	missense	unknown
R4782:Ewsr1	UTSW	11	5,020,423 (GRCm39)	missense	unknown
R5023:Ewsr1	UTSW	11	5,038,054 (GRCm39)	missense	possibly damaging	0.83
R5194:Ewsr1	UTSW	11	5,032,355 (GRCm39)	missense	unknown
R5422:Ewsr1	UTSW	11	5,030,668 (GRCm39)	intron	probably benign
R5790:Ewsr1	UTSW	11	5,032,263 (GRCm39)	intron	probably benign
R6993:Ewsr1	UTSW	11	5,021,573 (GRCm39)	missense	probably benign	0.23
R7719:Ewsr1	UTSW	11	5,035,900 (GRCm39)	missense	unknown
R9104:Ewsr1	UTSW	11	5,041,367 (GRCm39)	missense	unknown
R9380:Ewsr1	UTSW	11	5,043,730 (GRCm39)	missense	possibly damaging	0.96
R9404:Ewsr1	UTSW	11	5,022,940 (GRCm39)	missense	unknown
R9613:Ewsr1	UTSW	11	5,028,924 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2014-10-01