Mutagenetix > Incidental Mutation

Incidental Mutation 'R5023:Ewsr1'

391143

Institutional Source

Beutler Lab

Gene Symbol

Ewsr1

Ensembl Gene

ENSMUSG00000009079

Gene Name

Ewing sarcoma breakpoint region 1

Synonyms

Ews

MMRRC Submission

042614-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5019689-5049266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5038054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 113 (T113A)

Ref Sequence

ENSEMBL: ENSMUSP00000099994 (fasta)

Gene Model

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

AlphaFold

Q61545

Predicted Effect

probably benign
Transcript: ENSMUST00000063232

SMART Domains

Protein: ENSMUSP00000066827
Gene: ENSMUSG00000009079

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
AA Change: T107A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: T107A

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
AA Change: T107A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: T107A

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
AA Change: T107A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079
AA Change: T107A

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

possibly damaging
Transcript: ENSMUST00000102930
AA Change: T113A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: T113A

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: ENSMUST00000144238

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (127/129)

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: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,581 (GRCm39)	H739Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abca8b	A	G	11: 109,865,814 (GRCm39)		probably null	Het
Adam1b	C	T	5: 121,639,222 (GRCm39)	V608M	probably damaging	Het
Ank2	A	G	3: 126,735,520 (GRCm39)		probably benign	Het
Ankrd17	A	C	5: 90,430,727 (GRCm39)	L1019R	probably damaging	Het
Arih1	T	C	9: 59,393,515 (GRCm39)	N39S	unknown	Het
Best3	G	A	10: 116,824,647 (GRCm39)	V38I	probably benign	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
C1d	T	A	11: 17,216,674 (GRCm39)	N135K	probably benign	Het
Cage1	G	T	13: 38,195,387 (GRCm39)	S778*	probably null	Het
Capn7	T	A	14: 31,074,383 (GRCm39)	V262E	probably damaging	Het
Ccdc190	A	G	1: 169,760,656 (GRCm39)	R95G	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Cdh18	G	A	15: 23,259,752 (GRCm39)	S194N	probably damaging	Het
Ceacam23	A	T	7: 17,636,631 (GRCm39)	D236V	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Ctsw	T	A	19: 5,516,077 (GRCm39)	D237V	probably damaging	Het
Cyp2c68	G	A	19: 39,700,951 (GRCm39)	T289I	probably benign	Het
Cyp4f39	A	G	17: 32,700,078 (GRCm39)	Y133C	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dnah7a	C	A	1: 53,686,407 (GRCm39)	E248*	probably null	Het
Eef2kmt	T	A	16: 5,065,463 (GRCm39)	D248V	probably damaging	Het
Fbxo4	A	G	15: 4,007,238 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,075 (GRCm39)	M44K	probably benign	Het
Fchsd1	A	G	18: 38,097,863 (GRCm39)	I340T	possibly damaging	Het
Fgf5	C	A	5: 98,409,874 (GRCm39)	A141E	probably damaging	Het
Gfm1	T	C	3: 67,380,877 (GRCm39)	V664A	probably damaging	Het
Glp2r	T	C	11: 67,631,858 (GRCm39)	T121A	possibly damaging	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,876,432 (GRCm39)		noncoding transcript	Het
Gm1818	G	C	12: 48,602,318 (GRCm39)		noncoding transcript	Het
Gnb2	G	A	5: 137,528,202 (GRCm39)		probably null	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpx5	C	T	13: 21,472,915 (GRCm39)	V140I	probably damaging	Het
Gtpbp1	A	T	15: 79,603,422 (GRCm39)	Q637L	possibly damaging	Het
H2-T9	A	G	17: 36,420,307 (GRCm39)		probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hhat	A	T	1: 192,409,647 (GRCm39)	L138Q	probably damaging	Het
Hipk1	G	T	3: 103,684,823 (GRCm39)	T264N	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hnf4g	G	T	3: 3,709,647 (GRCm39)	A144S	probably damaging	Het
Hook3	TAGAG	TAG	8: 26,522,047 (GRCm39)		probably null	Het
Ifi204	G	A	1: 173,579,306 (GRCm39)	T513I	possibly damaging	Het
Ino80b	G	T	6: 83,102,023 (GRCm39)	S26R	probably damaging	Het
Ints9	T	A	14: 65,217,677 (GRCm39)	L68H	probably damaging	Het
Isx	C	T	8: 75,619,342 (GRCm39)	T178I	probably benign	Het
Kel	A	G	6: 41,665,045 (GRCm39)	L255P	probably damaging	Het
Klf11	T	A	12: 24,705,358 (GRCm39)	S271T	probably benign	Het
Klhl20	A	C	1: 160,936,790 (GRCm39)		probably null	Het
Lama2	G	A	10: 27,066,500 (GRCm39)	T1127I	probably damaging	Het
Larp1b	T	A	3: 40,988,420 (GRCm39)	N81K	possibly damaging	Het
Lsm11	T	C	11: 45,835,666 (GRCm39)	D25G	probably damaging	Het
Map3k20	T	A	2: 72,232,689 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Milr1	A	G	11: 106,657,791 (GRCm39)	D131G	possibly damaging	Het
Mybpc1	T	G	10: 88,379,636 (GRCm39)	D635A	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Ndufa7	A	G	17: 34,043,577 (GRCm39)		probably benign	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Neo1	T	C	9: 58,897,554 (GRCm39)	D134G	probably damaging	Het
Nme4	G	A	17: 26,312,642 (GRCm39)	T129I	probably benign	Het
Npffr2	A	T	5: 89,730,546 (GRCm39)	T159S	probably benign	Het
Nup153	A	T	13: 46,834,585 (GRCm39)		probably benign	Het
Or3a10	T	A	11: 73,935,881 (GRCm39)	D73V	probably damaging	Het
Or51ac3	A	C	7: 103,214,378 (GRCm39)	M36R	possibly damaging	Het
Pate2	T	C	9: 35,597,407 (GRCm39)		probably benign	Het
Pcca	A	G	14: 123,027,810 (GRCm39)	N73D	probably damaging	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Pkhd1l1	G	A	15: 44,445,623 (GRCm39)	M3768I	probably benign	Het
Ppa2	A	G	3: 133,076,195 (GRCm39)	M275V	probably benign	Het
Ptpn23	G	A	9: 110,217,624 (GRCm39)	T744I	probably benign	Het
Ptprv	A	T	1: 135,052,244 (GRCm39)		noncoding transcript	Het
Rad17	A	T	13: 100,781,571 (GRCm39)	H75Q	possibly damaging	Het
Rbm44	T	C	1: 91,096,820 (GRCm39)		probably null	Het
Rbpj	C	T	5: 53,806,757 (GRCm39)	R201W	probably damaging	Het
Rbpjl	C	A	2: 164,252,209 (GRCm39)	L215I	probably damaging	Het
Ror1	A	G	4: 100,283,129 (GRCm39)	E398G	probably benign	Het
Scamp3	T	A	3: 89,089,600 (GRCm39)		probably benign	Het
Selenot	CATGTATG	CATGTATGTATG	3: 58,495,874 (GRCm39)		probably null	Het
Siglec15	A	G	18: 78,091,890 (GRCm39)	C104R	probably damaging	Het
Sis	T	C	3: 72,841,455 (GRCm39)	I787V	probably benign	Het
Slc17a8	T	C	10: 89,412,422 (GRCm39)	D521G	probably benign	Het
Slc7a10	T	A	7: 34,896,780 (GRCm39)	M172K	possibly damaging	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Smg8	A	C	11: 86,976,963 (GRCm39)	V206G	probably damaging	Het
Smg9	A	G	7: 24,105,297 (GRCm39)	K137R	possibly damaging	Het
Srrm2	C	A	17: 24,038,291 (GRCm39)		probably benign	Het
Sult2a2	T	A	7: 13,468,785 (GRCm39)	Y84N	possibly damaging	Het
Syngr2	A	T	11: 117,703,336 (GRCm39)	I34F	probably benign	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tead4	T	C	6: 128,271,134 (GRCm39)		probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Tex36	A	T	7: 133,197,019 (GRCm39)	C33S	probably benign	Het
Timd5	T	A	11: 46,419,359 (GRCm39)	D58E	probably damaging	Het
Timm21	C	A	18: 84,967,539 (GRCm39)	V112L	possibly damaging	Het
Tmem240	T	A	4: 155,824,131 (GRCm39)	L92Q	probably damaging	Het
Tmem268	C	G	4: 63,486,777 (GRCm39)	S100C	probably damaging	Het
Tmod3	G	A	9: 75,418,488 (GRCm39)	P183S	probably damaging	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trim16	A	T	11: 62,727,638 (GRCm39)	Y233F	probably benign	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ttc3	A	G	16: 94,230,218 (GRCm39)	E450G	probably benign	Het
Ttk	A	G	9: 83,745,594 (GRCm39)	D647G	probably damaging	Het
Ubash3b	A	G	9: 40,948,755 (GRCm39)	C187R	possibly damaging	Het
Vmn1r29	T	A	6: 58,285,052 (GRCm39)	Y257*	probably null	Het
Vmn1r33	T	C	6: 66,589,089 (GRCm39)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,641 (GRCm39)	I421V	possibly damaging	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Zbtb11	A	G	16: 55,826,428 (GRCm39)	Y819C	probably damaging	Het
Zfp112	A	G	7: 23,825,909 (GRCm39)	T624A	probably damaging	Het
Zfp592	A	G	7: 80,674,095 (GRCm39)	D353G	probably damaging	Het
Zfp62	T	A	11: 49,106,556 (GRCm39)	S216T	probably damaging	Het
Zfp677	A	T	17: 21,618,056 (GRCm39)	H371L	probably damaging	Het
Zfp780b	T	C	7: 27,662,873 (GRCm39)	K561E	possibly damaging	Het
Zfp936	G	A	7: 42,836,681 (GRCm39)	D31N	probably damaging	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	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
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
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'- CGGTCCCAGTGTACAGAATCAC -3'
(R):5'- TGCTACTTTTCCTGCAAGAATGTAG -3'

Sequencing Primer
(F):5'- AGTGTACAGAATCACCCTTTCC -3'
(R):5'- TGTAGGAATTCAATCTTGTGATGC -3'

Posted On

2016-06-06