Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Ewsr1'

189506

Institutional Source

Beutler Lab

Gene Symbol

Ewsr1

Ensembl Gene

ENSMUSG00000009079

Gene Name

Ewing sarcoma breakpoint region 1

Synonyms

Ews

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5019689-5049266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5022870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 417 (D417E)

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: D374E

SMART Domains

Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: D374E

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: D411E

SMART Domains

Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: D411E

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: D417E

SMART Domains

Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: D417E

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: ENSMUST00000150168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151497

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	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
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

Predicted Primers

PCR Primer
(F):5'- TAGAAGGGCACACTGTGAGCAACC -3'
(R):5'- ACCACCACACTCTGTGTGACTGAC -3'

Sequencing Primer
(F):5'- CTTCTGAATTCCCTCAGGAAGAG -3'
(R):5'- GTGACTGACAGCCTTTTGAC -3'

Posted On

2014-05-14