Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Ubr5'

171126

Institutional Source

Beutler Lab

Gene Symbol

Ubr5

Ensembl Gene

ENSMUSG00000037487

Gene Name

ubiquitin protein ligase E3 component n-recognin 5

Synonyms

Edd1, Edd, 4432411E13Rik

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37967572-38079098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38041085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 266 (D266E)

Ref Sequence

ENSEMBL: ENSMUSP00000154293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110336] [ENSMUST00000226414]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110336
AA Change: D266E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: D266E

Domain	Start	End	E-Value	Type
low complexity region	94	111	N/A	INTRINSIC
low complexity region	129	156	N/A	INTRINSIC
Pfam:E3_UbLigase_EDD	179	230	9.7e-35	PFAM
low complexity region	282	323	N/A	INTRINSIC
low complexity region	614	628	N/A	INTRINSIC
low complexity region	860	870	N/A	INTRINSIC
low complexity region	933	950	N/A	INTRINSIC
low complexity region	970	999	N/A	INTRINSIC
low complexity region	1140	1151	N/A	INTRINSIC
ZnF_UBR1	1177	1244	5.42e-27	SMART
low complexity region	1396	1405	N/A	INTRINSIC
low complexity region	1524	1537	N/A	INTRINSIC
low complexity region	1567	1613	N/A	INTRINSIC
low complexity region	1641	1657	N/A	INTRINSIC
low complexity region	1662	1687	N/A	INTRINSIC
low complexity region	1726	1742	N/A	INTRINSIC
low complexity region	1759	1789	N/A	INTRINSIC
low complexity region	1879	1890	N/A	INTRINSIC
low complexity region	1972	1983	N/A	INTRINSIC
low complexity region	1986	1997	N/A	INTRINSIC
Blast:HECTc	2271	2313	2e-6	BLAST
low complexity region	2329	2366	N/A	INTRINSIC
PolyA	2389	2452	3.97e-33	SMART
HECTc	2432	2798	1e-151	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000226414
AA Change: D266E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.7562

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(151) : Targeted(3) Gene trapped(148)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,076,067 (GRCm39)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Calca	A	G	7: 114,234,396 (GRCm39)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,792 (GRCm39)	D222Y	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,808,555 (GRCm39)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Or8b52	G	A	9: 38,576,573 (GRCm39)	T189M	probably damaging	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het
Zfp541	T	C	7: 15,812,640 (GRCm39)	V431A	possibly damaging	Het

Other mutations in Ubr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ubr5	APN	15	37,984,280 (GRCm39)	missense	probably damaging	1.00
IGL00548:Ubr5	APN	15	38,004,565 (GRCm39)	missense	probably benign	0.11
IGL00675:Ubr5	APN	15	38,018,528 (GRCm39)	missense	possibly damaging	0.84
IGL00770:Ubr5	APN	15	38,006,785 (GRCm39)	missense	probably benign	0.27
IGL00774:Ubr5	APN	15	38,006,785 (GRCm39)	missense	probably benign	0.27
IGL00919:Ubr5	APN	15	38,041,086 (GRCm39)	missense	probably damaging	1.00
IGL00962:Ubr5	APN	15	37,986,178 (GRCm39)	missense	probably damaging	1.00
IGL01328:Ubr5	APN	15	37,981,767 (GRCm39)	missense	possibly damaging	0.82
IGL01359:Ubr5	APN	15	37,973,250 (GRCm39)	missense	probably damaging	0.96
IGL01394:Ubr5	APN	15	38,009,875 (GRCm39)	missense	possibly damaging	0.90
IGL01674:Ubr5	APN	15	37,998,623 (GRCm39)	missense	probably damaging	1.00
IGL01981:Ubr5	APN	15	37,996,842 (GRCm39)	missense	probably benign	0.08
IGL01993:Ubr5	APN	15	37,973,256 (GRCm39)	missense	probably damaging	0.99
IGL02159:Ubr5	APN	15	37,991,623 (GRCm39)	splice site	probably benign
IGL02252:Ubr5	APN	15	38,025,138 (GRCm39)	missense	probably damaging	1.00
IGL02442:Ubr5	APN	15	38,038,145 (GRCm39)	missense	possibly damaging	0.95
IGL02502:Ubr5	APN	15	38,030,933 (GRCm39)	missense	probably benign	0.01
IGL02503:Ubr5	APN	15	38,018,558 (GRCm39)	missense	probably damaging	0.99
IGL02503:Ubr5	APN	15	38,018,564 (GRCm39)	missense	possibly damaging	0.90
IGL02546:Ubr5	APN	15	38,008,991 (GRCm39)	missense	probably benign	0.00
IGL02556:Ubr5	APN	15	38,002,692 (GRCm39)	missense	probably benign	0.18
IGL02647:Ubr5	APN	15	37,992,326 (GRCm39)	missense	probably damaging	0.99
IGL02679:Ubr5	APN	15	38,002,558 (GRCm39)	missense	probably benign	0.36
IGL02726:Ubr5	APN	15	38,000,806 (GRCm39)	splice site	probably benign
IGL02884:Ubr5	APN	15	37,998,620 (GRCm39)	missense	probably damaging	1.00
IGL02972:Ubr5	APN	15	38,042,196 (GRCm39)	missense	probably damaging	1.00
IGL03000:Ubr5	APN	15	38,025,096 (GRCm39)	missense	probably damaging	0.99
IGL03028:Ubr5	APN	15	38,047,837 (GRCm39)	missense	probably benign	0.00
IGL03057:Ubr5	APN	15	38,041,150 (GRCm39)	splice site	probably benign
IGL03085:Ubr5	APN	15	38,029,812 (GRCm39)	missense	probably damaging	1.00
IGL03198:Ubr5	APN	15	38,045,964 (GRCm39)	missense	probably damaging	1.00
IGL03368:Ubr5	APN	15	37,998,560 (GRCm39)	missense	probably damaging	0.96
Anchovy	UTSW	15	37,980,076 (GRCm39)	missense	probably null
P0016:Ubr5	UTSW	15	38,000,822 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Ubr5	UTSW	15	38,042,153 (GRCm39)	missense
R0133:Ubr5	UTSW	15	37,996,815 (GRCm39)	missense	probably damaging	0.98
R0173:Ubr5	UTSW	15	38,004,919 (GRCm39)	missense	probably damaging	1.00
R0234:Ubr5	UTSW	15	37,968,737 (GRCm39)	missense	probably damaging	1.00
R0234:Ubr5	UTSW	15	37,968,737 (GRCm39)	missense	probably damaging	1.00
R0314:Ubr5	UTSW	15	37,997,431 (GRCm39)	missense	probably damaging	0.99
R0379:Ubr5	UTSW	15	38,019,201 (GRCm39)	missense	probably benign	0.00
R0390:Ubr5	UTSW	15	38,030,916 (GRCm39)	missense	probably benign	0.19
R0415:Ubr5	UTSW	15	37,973,224 (GRCm39)	missense	probably damaging	0.98
R0531:Ubr5	UTSW	15	37,991,588 (GRCm39)	missense	probably benign	0.34
R0650:Ubr5	UTSW	15	38,031,051 (GRCm39)	splice site	probably benign
R0720:Ubr5	UTSW	15	37,973,235 (GRCm39)	missense	probably damaging	0.98
R1183:Ubr5	UTSW	15	37,997,419 (GRCm39)	missense	possibly damaging	0.71
R1302:Ubr5	UTSW	15	38,041,723 (GRCm39)	missense	possibly damaging	0.91
R1442:Ubr5	UTSW	15	38,015,168 (GRCm39)	splice site	probably benign
R1507:Ubr5	UTSW	15	37,981,114 (GRCm39)	missense	probably damaging	1.00
R1577:Ubr5	UTSW	15	38,030,974 (GRCm39)	missense	possibly damaging	0.76
R1622:Ubr5	UTSW	15	38,009,357 (GRCm39)	unclassified	probably benign
R1721:Ubr5	UTSW	15	38,042,090 (GRCm39)	missense	probably benign	0.18
R1799:Ubr5	UTSW	15	37,989,621 (GRCm39)	missense	probably damaging	1.00
R1840:Ubr5	UTSW	15	37,981,161 (GRCm39)	missense	possibly damaging	0.51
R1867:Ubr5	UTSW	15	38,042,090 (GRCm39)	missense	probably benign	0.18
R1868:Ubr5	UTSW	15	38,042,090 (GRCm39)	missense	probably benign	0.18
R2065:Ubr5	UTSW	15	38,041,086 (GRCm39)	missense	probably damaging	1.00
R2107:Ubr5	UTSW	15	37,989,546 (GRCm39)	missense	probably benign	0.00
R2201:Ubr5	UTSW	15	38,002,543 (GRCm39)	missense	possibly damaging	0.83
R2261:Ubr5	UTSW	15	37,988,528 (GRCm39)	missense	probably damaging	0.99
R2441:Ubr5	UTSW	15	37,989,589 (GRCm39)	missense	probably damaging	0.99
R2512:Ubr5	UTSW	15	38,002,563 (GRCm39)	missense	probably damaging	1.00
R3008:Ubr5	UTSW	15	38,031,089 (GRCm39)	missense	probably benign
R3412:Ubr5	UTSW	15	38,004,479 (GRCm39)	splice site	probably benign
R3898:Ubr5	UTSW	15	37,997,983 (GRCm39)	missense	probably benign	0.02
R3900:Ubr5	UTSW	15	38,019,486 (GRCm39)	missense	probably damaging	1.00
R4032:Ubr5	UTSW	15	38,025,081 (GRCm39)	missense
R4352:Ubr5	UTSW	15	38,041,817 (GRCm39)	missense	probably benign	0.31
R4362:Ubr5	UTSW	15	38,078,647 (GRCm39)	missense	probably damaging	0.99
R4467:Ubr5	UTSW	15	38,004,580 (GRCm39)	missense	probably damaging	1.00
R4507:Ubr5	UTSW	15	38,013,786 (GRCm39)	missense	probably damaging	0.96
R4683:Ubr5	UTSW	15	38,038,211 (GRCm39)	missense	probably damaging	1.00
R4771:Ubr5	UTSW	15	38,018,541 (GRCm39)	missense	possibly damaging	0.50
R4878:Ubr5	UTSW	15	38,006,808 (GRCm39)	missense	probably benign	0.01
R4999:Ubr5	UTSW	15	38,009,912 (GRCm39)	missense	probably benign	0.06
R5057:Ubr5	UTSW	15	38,004,353 (GRCm39)	missense	probably damaging	0.98
R5177:Ubr5	UTSW	15	38,006,761 (GRCm39)	missense	probably benign	0.22
R5186:Ubr5	UTSW	15	37,998,160 (GRCm39)	missense	probably damaging	0.99
R5378:Ubr5	UTSW	15	37,989,822 (GRCm39)	missense	probably damaging	1.00
R5486:Ubr5	UTSW	15	38,008,983 (GRCm39)	missense	probably benign	0.00
R5494:Ubr5	UTSW	15	38,019,525 (GRCm39)	missense	possibly damaging	0.78
R5617:Ubr5	UTSW	15	38,030,901 (GRCm39)	missense	possibly damaging	0.47
R5636:Ubr5	UTSW	15	37,984,240 (GRCm39)	missense	probably damaging	1.00
R5655:Ubr5	UTSW	15	38,015,337 (GRCm39)	missense	probably damaging	0.99
R5715:Ubr5	UTSW	15	38,002,477 (GRCm39)	missense	probably benign	0.06
R5781:Ubr5	UTSW	15	38,006,785 (GRCm39)	missense	probably benign	0.27
R6645:Ubr5	UTSW	15	38,029,750 (GRCm39)	missense	probably damaging	1.00
R6774:Ubr5	UTSW	15	38,015,379 (GRCm39)	missense	probably damaging	1.00
R6823:Ubr5	UTSW	15	37,989,842 (GRCm39)	missense	probably benign	0.08
R6877:Ubr5	UTSW	15	38,002,814 (GRCm39)	missense	probably damaging	0.98
R7105:Ubr5	UTSW	15	38,009,019 (GRCm39)	missense
R7166:Ubr5	UTSW	15	37,976,389 (GRCm39)	missense
R7514:Ubr5	UTSW	15	37,988,481 (GRCm39)	missense
R7523:Ubr5	UTSW	15	38,004,299 (GRCm39)	missense
R7631:Ubr5	UTSW	15	38,029,751 (GRCm39)	missense
R7709:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7710:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7712:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7803:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7816:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7817:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7821:Ubr5	UTSW	15	37,997,431 (GRCm39)	missense	probably damaging	0.96
R7824:Ubr5	UTSW	15	37,991,566 (GRCm39)	missense	probably damaging	0.97
R7841:Ubr5	UTSW	15	37,981,150 (GRCm39)	missense
R7869:Ubr5	UTSW	15	37,980,076 (GRCm39)	missense	probably null
R7896:Ubr5	UTSW	15	38,041,817 (GRCm39)	missense	probably benign	0.31
R8191:Ubr5	UTSW	15	38,006,751 (GRCm39)	missense
R8342:Ubr5	UTSW	15	38,025,081 (GRCm39)	missense
R8745:Ubr5	UTSW	15	38,025,039 (GRCm39)	missense
R8811:Ubr5	UTSW	15	38,041,123 (GRCm39)	missense
R8904:Ubr5	UTSW	15	38,042,153 (GRCm39)	missense
R8955:Ubr5	UTSW	15	38,029,825 (GRCm39)	missense
R8956:Ubr5	UTSW	15	38,015,367 (GRCm39)	missense	probably damaging	1.00
R9051:Ubr5	UTSW	15	38,002,503 (GRCm39)	missense
R9102:Ubr5	UTSW	15	38,018,596 (GRCm39)	missense
R9183:Ubr5	UTSW	15	37,997,420 (GRCm39)	missense
R9235:Ubr5	UTSW	15	38,045,982 (GRCm39)	missense
R9392:Ubr5	UTSW	15	37,984,251 (GRCm39)	missense
R9473:Ubr5	UTSW	15	38,002,617 (GRCm39)	missense
R9596:Ubr5	UTSW	15	37,986,213 (GRCm39)	missense
R9659:Ubr5	UTSW	15	37,984,254 (GRCm39)	missense
R9683:Ubr5	UTSW	15	37,978,271 (GRCm39)	missense
RF024:Ubr5	UTSW	15	38,028,896 (GRCm39)	missense
X0024:Ubr5	UTSW	15	37,992,304 (GRCm39)	missense	probably damaging	1.00
Z1177:Ubr5	UTSW	15	38,040,999 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CGGCTATGTAATGACTTCGCCCTAC -3'
(R):5'- AGCAGTTATGCAGACTGTTCGTCC -3'

Sequencing Primer
(F):5'- GACTTCGCCCTACTGTAAGATCTAAG -3'
(R):5'- CTTAGATCTTGGGGGACACTC -3'

Posted On

2014-04-13