Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Ubr5'

23733

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

038445-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0173 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

37967572-38079098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38004919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1227 (S1227P)

Ref Sequence

ENSEMBL: ENSMUSP00000154293 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110336
AA Change: S1221P

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: S1221P

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

noncoding transcript
Transcript: ENSMUST00000226137

Predicted Effect

probably damaging
Transcript: ENSMUST00000226414
AA Change: S1227P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228504

Meta Mutation Damage Score

0.3044

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Akt1s1	C	T	7: 44,502,284 (GRCm39)	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,735,222 (GRCm39)	R374S	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Qprt	C	T	7: 126,707,543 (GRCm39)	G215E	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slc48a1	A	T	15: 97,688,555 (GRCm39)	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Vipas39	A	G	12: 87,297,285 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	Het
Xpc	A	G	6: 91,481,717 (GRCm39)		probably benign	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
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
R1575:Ubr5	UTSW	15	38,041,085 (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'- AAGGTGCTCTCCCCTAGAACACAG -3'
(R):5'- AGTGCCCATGTGAGGACCATGTAG -3'

Sequencing Primer
(F):5'- gagggagggaggggagg -3'
(R):5'- AGTCTTCATTGCAATGTAGATCTG -3'

Posted On

2013-04-16