Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Ewsr1'

711422

Institutional Source

Beutler Lab

Gene Symbol

Ewsr1

Ensembl Gene

ENSMUSG00000009079

Gene Name

Ewing sarcoma breakpoint region 1

Synonyms

Ews

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5019689-5049266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5022940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 388 (M388T)

Ref Sequence

ENSEMBL: ENSMUSP00000078867 (fasta)

Gene Model

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

AlphaFold

Q61545

Predicted Effect

unknown
Transcript: ENSMUST00000073308
AA Change: M351T

SMART Domains

Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: M351T

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: M388T

SMART Domains

Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: M388T

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: M394T

SMART Domains

Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: M394T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,615,509 (GRCm39)	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdh11	A	T	8: 103,406,254 (GRCm39)	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,083,818 (GRCm39)	L105Q	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Mmp17	A	G	5: 129,682,741 (GRCm39)	D460G	possibly damaging	Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or2aj4	C	T	16: 19,384,731 (GRCm39)	V301M	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spaca6	T	C	17: 18,057,800 (GRCm39)	C155R	probably damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	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
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
R9613:Ewsr1	UTSW	11	5,028,924 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCCTAAGTGAGCAGAATCC -3'
(R):5'- TCTCCTGGGGAAGACTTGAC -3'

Sequencing Primer
(F):5'- CCTAAGTGAGCAGAATCCAGAGTGAC -3'
(R):5'- TAAACTGTCTGTGGCATGAGAC -3'

Posted On

2022-05-16