Mutagenetix > Incidental Mutation

Incidental Mutation 'R5177:Ubr5'

399645

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

042757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37967572-38079098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38006761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1171 (Y1171H)

Ref Sequence

ENSEMBL: ENSMUSP00000154293 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110336
AA Change: Y1165H

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: Y1165H

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
AA Change: Y1171H

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228504

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (71/73)

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
Abcb11	C	T	2: 69,115,639 (GRCm39)	R575Q	probably damaging	Het
Arhgap22	T	G	14: 33,088,650 (GRCm39)	V377G	probably benign	Het
Asic4	T	C	1: 75,427,483 (GRCm39)	I3T	probably damaging	Het
Atp2b4	T	C	1: 133,656,506 (GRCm39)	T715A	probably benign	Het
Bltp3a	T	C	17: 28,103,992 (GRCm39)	L464P	possibly damaging	Het
Ccdc180	A	T	4: 45,917,508 (GRCm39)	H283L	probably damaging	Het
Cfap91	A	G	16: 38,152,683 (GRCm39)	S176P	probably benign	Het
Cfb	A	G	17: 35,078,002 (GRCm39)	V976A	probably damaging	Het
Cltc	T	C	11: 86,595,989 (GRCm39)	T1250A	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,180,730 (GRCm39)	D131E	probably damaging	Het
Dmxl1	T	C	18: 50,026,651 (GRCm39)	S1920P	probably damaging	Het
Dnajc13	G	A	9: 104,108,185 (GRCm39)	H197Y	probably benign	Het
Dpy19l1	C	T	9: 24,349,924 (GRCm39)		probably null	Het
Ears2	A	G	7: 121,643,683 (GRCm39)		probably benign	Het
Epgn	A	C	5: 91,176,136 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,302,601 (GRCm39)	T418A	probably benign	Het
F12	G	A	13: 55,567,981 (GRCm39)	P476S	probably benign	Het
Gal3st2c	C	T	1: 93,936,930 (GRCm39)	Q292*	probably null	Het
Galnt7	C	A	8: 58,037,061 (GRCm39)	Q109H	possibly damaging	Het
Gimap1	G	T	6: 48,720,032 (GRCm39)	G215W	probably damaging	Het
Gm28042	T	A	2: 119,872,082 (GRCm39)		probably null	Het
Gm5414	A	G	15: 101,534,252 (GRCm39)	I284T	possibly damaging	Het
Hddc3	A	G	7: 79,992,914 (GRCm39)	E10G	probably damaging	Het
Hmgxb3	T	C	18: 61,305,266 (GRCm39)	K31E	probably damaging	Het
Hspg2	A	C	4: 137,246,083 (GRCm39)	Y989S	probably damaging	Het
Kif12	G	A	4: 63,086,141 (GRCm39)	T402M	probably benign	Het
Klhdc4	A	T	8: 122,540,529 (GRCm39)	L115*	probably null	Het
Lama2	C	T	10: 27,066,699 (GRCm39)	V1061M	possibly damaging	Het
Llgl1	C	T	11: 60,602,833 (GRCm39)	T836I	possibly damaging	Het
Map4k4	A	G	1: 40,025,922 (GRCm39)	D304G	probably damaging	Het
Matn2	A	G	15: 34,433,660 (GRCm39)	Q915R	possibly damaging	Het
Myo18a	A	G	11: 77,755,668 (GRCm39)		probably benign	Het
Myorg	C	A	4: 41,498,407 (GRCm39)	E408*	probably null	Het
Nbn	A	T	4: 15,965,132 (GRCm39)		probably null	Het
Nek8	G	A	11: 78,061,297 (GRCm39)	Q383*	probably null	Het
Nme7	T	G	1: 164,208,245 (GRCm39)	Y304*	probably null	Het
Nol8	A	T	13: 49,814,588 (GRCm39)	H214L	probably benign	Het
Nostrin	A	T	2: 69,006,098 (GRCm39)	I261F	possibly damaging	Het
Oprk1	T	G	1: 5,672,897 (GRCm39)	C345G	probably damaging	Het
Or13a18	A	G	7: 140,190,102 (GRCm39)	T8A	probably benign	Het
Or52j3	A	T	7: 102,836,710 (GRCm39)	I301L	probably benign	Het
Polrmt	T	C	10: 79,573,310 (GRCm39)	S998G	probably benign	Het
Ppp1r12c	T	A	7: 4,487,495 (GRCm39)	R393*	probably null	Het
Prpf3	T	A	3: 95,757,036 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,475,385 (GRCm39)	M563V	probably benign	Het
Rasa2	C	A	9: 96,426,844 (GRCm39)	E775*	probably null	Het
Rc3h1	G	T	1: 160,779,222 (GRCm39)	V552L	probably damaging	Het
Rhot1	A	T	11: 80,137,592 (GRCm39)	N365Y	possibly damaging	Het
Rimbp3	G	A	16: 17,027,781 (GRCm39)	V402M	possibly damaging	Het
Rusc2	A	T	4: 43,421,805 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,536,643 (GRCm39)	E141G	probably damaging	Het
Slc34a1	A	T	13: 55,548,975 (GRCm39)	I142F	probably damaging	Het
Socs6	A	C	18: 88,887,504 (GRCm39)	Y470*	probably null	Het
Sox12	A	T	2: 152,239,098 (GRCm39)	L174Q	unknown	Het
Srl	A	G	16: 4,314,267 (GRCm39)		probably null	Het
Tacc1	A	T	8: 25,691,237 (GRCm39)	V22E	probably damaging	Het
Thsd7a	A	T	6: 12,379,582 (GRCm39)	C947*	probably null	Het
Tlr12	A	C	4: 128,512,169 (GRCm39)	V27G	probably damaging	Het
Tmprss4	C	A	9: 45,085,260 (GRCm39)	V398L	probably benign	Het
Trip6	T	C	5: 137,310,434 (GRCm39)	D270G	probably damaging	Het
Uba5	T	G	9: 103,926,497 (GRCm39)	N355T	probably benign	Het
Vmn2r57	A	G	7: 41,049,664 (GRCm39)	I695T	probably benign	Het
Vmn2r68	T	A	7: 84,871,199 (GRCm39)	I695L	probably damaging	Het
Vmn2r79	T	A	7: 86,651,177 (GRCm39)	M192K	probably damaging	Het
Vps16	G	T	2: 130,285,288 (GRCm39)	E782*	probably null	Het
Zfp783	A	G	6: 47,923,737 (GRCm39)		noncoding transcript	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
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
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'- CCATCCTTATGTAGGGCTCAAATC -3'
(R):5'- GGCAGGAAGTATGCAAGATCTC -3'

Sequencing Primer
(F):5'- AAAAACAACAACAACAAAACAAACC -3'
(R):5'- TGTGGATGAGCCTCTCCAG -3'

Posted On

2016-07-06