Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Ubr5'

161565

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

039497-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37967572-38079098 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 38015168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110336

SMART Domains

Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487

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 benign
Transcript: ENSMUST00000226414

Predicted Effect

probably benign
Transcript: ENSMUST00000227143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228504

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably 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
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'- TCATTGGGGATTACAGGTGGGAAGT -3'
(R):5'- CAGTATCTCGTGAATCTGGAGCAAGC -3'

Sequencing Primer
(F):5'- gctgcctgctctaaagtcc -3'
(R):5'- ACGTTCATCAGCCACAGATG -3'

Posted On

2014-03-14