Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02218:Ewsr1'

284984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ewsr1

Ensembl Gene

ENSMUSG00000009079

Gene Name

Ewing sarcoma breakpoint region 1

Synonyms

Ews

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02218

Quality Score

Status

Chromosome

Chromosomal Location

5019689-5049266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5020668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 551 (P551S)

Ref Sequence

ENSEMBL: ENSMUSP00000099994 (fasta)

Gene Model

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

AlphaFold

Q61545

Predicted Effect

unknown
Transcript: ENSMUST00000073308
AA Change: P508S

SMART Domains

Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: P508S

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

unknown
Transcript: ENSMUST00000079949
AA Change: P545S

SMART Domains

Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: P545S

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

unknown
Transcript: ENSMUST00000102930
AA Change: P551S

SMART Domains

Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: P551S

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: ENSMUST00000130060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150168

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,838 (GRCm39)	D122G	probably benign	Het
Abcc8	T	C	7: 45,769,860 (GRCm39)	D885G	probably benign	Het
Abcf1	T	C	17: 36,269,230 (GRCm39)	K676R	probably benign	Het
Acsf2	A	G	11: 94,492,589 (GRCm39)	V3A	probably benign	Het
Apba2	C	T	7: 64,345,425 (GRCm39)	T205I	probably benign	Het
Bricd5	C	A	17: 24,694,296 (GRCm39)	Y171*	probably null	Het
Camk2d	T	G	3: 126,633,802 (GRCm39)	N441K	probably benign	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Chd3	C	T	11: 69,242,920 (GRCm39)		probably benign	Het
Cipc	A	G	12: 87,008,702 (GRCm39)	N166S	probably damaging	Het
Cln5	A	C	14: 103,313,276 (GRCm39)		probably null	Het
Cnbd1	C	A	4: 18,887,739 (GRCm39)	Q258H	probably benign	Het
Cyp8b1	A	G	9: 121,744,183 (GRCm39)	L383P	probably damaging	Het
Dnai4	A	G	4: 102,953,971 (GRCm39)	V76A	probably damaging	Het
Dok3	A	G	13: 55,671,599 (GRCm39)	L324P	probably damaging	Het
Eftud2	A	T	11: 102,761,039 (GRCm39)	F102Y	possibly damaging	Het
Fam193a	G	T	5: 34,600,932 (GRCm39)	V346L	possibly damaging	Het
Golim4	A	G	3: 75,785,361 (GRCm39)	S677P	probably damaging	Het
Gpr149	A	G	3: 62,437,952 (GRCm39)		probably benign	Het
Ins1	A	T	19: 52,253,121 (GRCm39)	K20N	probably benign	Het
Itpr2	A	T	6: 146,141,760 (GRCm39)		probably benign	Het
Jup	G	A	11: 100,272,665 (GRCm39)	T249I	probably damaging	Het
Kctd20	T	A	17: 29,176,877 (GRCm39)	N2K	probably benign	Het
Kif15	A	G	9: 122,824,892 (GRCm39)		probably benign	Het
Klrb1-ps1	T	C	6: 129,106,269 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,884 (GRCm39)		probably null	Het
Lamb3	A	T	1: 193,010,941 (GRCm39)		probably null	Het
Large1	A	G	8: 73,638,750 (GRCm39)	W276R	probably damaging	Het
Lrp1b	T	C	2: 41,185,684 (GRCm39)	N603D	probably benign	Het
Lrrc37a	A	G	11: 103,391,207 (GRCm39)	V1406A	probably benign	Het
Lrrc74a	A	G	12: 86,795,822 (GRCm39)	D265G	probably benign	Het
Lrrfip2	G	A	9: 111,048,793 (GRCm39)	C250Y	probably benign	Het
Mbtd1	A	G	11: 93,822,629 (GRCm39)		probably benign	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Mtfr1l	C	T	4: 134,256,491 (GRCm39)	D225N	probably benign	Het
Nckap1l	T	A	15: 103,391,954 (GRCm39)	S796R	possibly damaging	Het
Oaf	T	A	9: 43,136,219 (GRCm39)	H119L	probably benign	Het
Or4d1	A	T	11: 87,804,889 (GRCm39)	M281K	probably damaging	Het
Pik3c2g	A	T	6: 139,806,081 (GRCm39)	H516L	probably damaging	Het
Pkd1l3	A	T	8: 110,387,434 (GRCm39)	I1793F	possibly damaging	Het
Ptpra	A	G	2: 130,394,255 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slc2a2	A	T	3: 28,752,174 (GRCm39)	E3D	possibly damaging	Het
Slc35f5	T	C	1: 125,512,292 (GRCm39)	F14S	probably damaging	Het
Sspn	T	C	6: 145,907,112 (GRCm39)	V105A	probably damaging	Het
Syvn1	T	C	19: 6,100,229 (GRCm39)	I263T	probably damaging	Het
Tek	A	C	4: 94,743,574 (GRCm39)	D863A	probably damaging	Het
Tent5b	C	T	4: 133,213,462 (GRCm39)	A111V	probably damaging	Het
Tm9sf4	G	T	2: 153,046,536 (GRCm39)	V592F	probably benign	Het
Tmem259	A	G	10: 79,814,151 (GRCm39)	M354T	possibly damaging	Het
Ttf2	T	C	3: 100,871,409 (GRCm39)	E84G	possibly damaging	Het
Ttyh3	T	C	5: 140,612,246 (GRCm39)	E487G	probably damaging	Het
Ubtf	C	A	11: 102,197,526 (GRCm39)	E709*	probably null	Het
Vmn1r119	T	C	7: 20,745,561 (GRCm39)	R274G	probably benign	Het
Zfp804a	A	G	2: 82,089,546 (GRCm39)	Q1125R	probably 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
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
R2158:Ewsr1	UTSW	11	5,041,450 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16