Mutagenetix > Incidental Mutation

Incidental Mutation 'R4683:Ubr5'

350130

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

041935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37967572-38079098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38038211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 316 (R316H)

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: R310H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: R310H

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: R316H

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,709 (GRCm39)	V56A	probably damaging	Het
Acyp1	A	G	12: 85,325,717 (GRCm39)		probably benign	Het
Adgrb1	A	T	15: 74,459,963 (GRCm39)	K532I	probably damaging	Het
Ahrr	T	A	13: 74,372,885 (GRCm39)		silent	Het
Asz1	T	C	6: 18,055,541 (GRCm39)		probably benign	Het
AW554918	T	C	18: 25,472,852 (GRCm39)	Y219H	probably benign	Het
Ccno	C	A	13: 113,125,543 (GRCm39)		probably null	Het
Cdh17	A	T	4: 11,817,036 (GRCm39)	N816Y	possibly damaging	Het
Clca4a	C	T	3: 144,660,701 (GRCm39)	V708I	probably damaging	Het
Col6a3	T	A	1: 90,701,179 (GRCm39)	Y2579F	unknown	Het
Col6a4	A	G	9: 105,957,329 (GRCm39)	V165A	probably benign	Het
Csf1r	T	A	18: 61,257,983 (GRCm39)	C651S	probably damaging	Het
Cyp4f14	T	C	17: 33,126,985 (GRCm39)	D315G	probably null	Het
Def6	A	G	17: 28,436,609 (GRCm39)	D91G	probably damaging	Het
Dmxl1	T	G	18: 50,011,088 (GRCm39)	S1082A	probably damaging	Het
Dnah2	A	T	11: 69,349,768 (GRCm39)	Y2392N	probably damaging	Het
Dsg4	T	C	18: 20,594,466 (GRCm39)	S532P	probably benign	Het
Efr3a	C	A	15: 65,691,650 (GRCm39)	S126R	probably damaging	Het
Gab1	A	C	8: 81,515,261 (GRCm39)	H352Q	probably benign	Het
Gm1110	A	G	9: 26,831,890 (GRCm39)	M87T	probably damaging	Het
Greb1	C	T	12: 16,761,774 (GRCm39)	M535I	possibly damaging	Het
Greb1l	T	A	18: 10,529,563 (GRCm39)		probably null	Het
Gucy2d	T	C	7: 98,102,650 (GRCm39)	C487R	probably benign	Het
H1f7	A	T	15: 98,154,921 (GRCm39)	I76N	probably damaging	Het
Lrrc2	A	T	9: 110,791,614 (GRCm39)	H122L	possibly damaging	Het
Mrps22	A	T	9: 98,480,359 (GRCm39)		probably null	Het
Mxd3	T	C	13: 55,473,613 (GRCm39)	T202A	probably benign	Het
Neb	T	C	2: 52,134,074 (GRCm39)	H3303R	possibly damaging	Het
Nup133	G	A	8: 124,657,721 (GRCm39)	R405*	probably null	Het
Or13a19	T	C	7: 139,902,681 (GRCm39)	L23P	probably benign	Het
Or14j6	A	G	17: 38,215,039 (GRCm39)	T201A	probably benign	Het
Pard3b	T	C	1: 62,255,675 (GRCm39)	Y629H	probably benign	Het
Pcnx1	A	G	12: 82,033,446 (GRCm39)	D1781G	probably benign	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Pcsk9	A	T	4: 106,316,092 (GRCm39)	I117N	possibly damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Pfkfb2	T	A	1: 130,634,221 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,114,901 (GRCm39)	E1456G	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Sh2b2	C	T	5: 136,260,574 (GRCm39)	C214Y	probably damaging	Het
Slc52a2	C	A	15: 76,424,433 (GRCm39)	P224T	probably damaging	Het
Slf2	C	G	19: 44,923,920 (GRCm39)	R245G	probably benign	Het
Sox5	T	C	6: 143,779,193 (GRCm39)	S648G	probably damaging	Het
Stk36	T	A	1: 74,673,344 (GRCm39)	I1079N	probably benign	Het
Stxbp3	T	C	3: 108,708,188 (GRCm39)	D371G	probably damaging	Het
Trnau1ap	A	T	4: 132,049,063 (GRCm39)	Y47N	probably damaging	Het
Vmn1r230	C	T	17: 21,067,515 (GRCm39)	R235C	probably benign	Het
Wnt10a	C	T	1: 74,842,296 (GRCm39)	H93Y	unknown	Het
Zfp1005	T	A	2: 150,108,390 (GRCm39)	H50Q	possibly damaging	Het
Zfp52	A	G	17: 21,781,769 (GRCm39)	D539G	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
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
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'- AAACTGATGCCTCTTTTCAACAGTC -3'
(R):5'- CTGCCCACCAAATCATTTAGATACTG -3'

Sequencing Primer
(F):5'- ATGGTTGTTAGGACTCTAATGAAAGG -3'
(R):5'- AGATACTGACTGTGCATTTTGC -3'

Posted On

2015-10-08