Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02556:Ubr5'

298503

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubr5

Ensembl Gene

ENSMUSG00000037487

Gene Name

ubiquitin protein ligase E3 component n-recognin 5

Synonyms

Edd1, Edd, 4432411E13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02556

Quality Score

Status

Chromosome

Chromosomal Location

37967572-38079098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38002692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1453 (I1453T)

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: I1447T

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105965
Gene: ENSMUSG00000037487
AA Change: I1447T

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 benign
Transcript: ENSMUST00000226414
AA Change: I1453T

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228504

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	G	10: 100,446,579 (GRCm39)		probably null	Het
Ace	A	G	11: 105,863,353 (GRCm39)	D376G	probably damaging	Het
Adgrb1	C	T	15: 74,458,654 (GRCm39)	T1252I	probably damaging	Het
Bhmt	T	C	13: 93,774,008 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,425,186 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,299,065 (GRCm39)	T37A	probably benign	Het
Cnmd	C	T	14: 79,899,400 (GRCm39)	V18I	probably benign	Het
Cryl1	C	T	14: 57,513,478 (GRCm39)	V248M	probably benign	Het
D830039M14Rik	C	T	10: 61,311,262 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,331,128 (GRCm39)	T107A	possibly damaging	Het
Efna5	C	A	17: 62,958,023 (GRCm39)	V78F	probably damaging	Het
Eml1	A	G	12: 108,503,625 (GRCm39)	I741V	probably benign	Het
Gfap	A	G	11: 102,787,780 (GRCm39)	L55P	probably damaging	Het
Itga6	A	G	2: 71,669,027 (GRCm39)	I606V	probably benign	Het
Kif2c	G	T	4: 117,019,802 (GRCm39)	D579E	probably damaging	Het
Lef1	T	C	3: 130,988,442 (GRCm39)		probably null	Het
Lrrc1	T	A	9: 77,342,404 (GRCm39)	I357L	probably benign	Het
Lrrc37	A	G	11: 103,504,109 (GRCm39)	S2620P	probably benign	Het
Map3k20	T	A	2: 72,202,239 (GRCm39)	F157I	probably damaging	Het
Naga	A	T	15: 82,214,337 (GRCm39)	N391K	probably damaging	Het
Ncaph	T	C	2: 126,968,025 (GRCm39)		probably benign	Het
Or11g2	C	A	14: 50,856,185 (GRCm39)	Q169K	probably benign	Het
Or12d13	T	A	17: 37,647,887 (GRCm39)	M79L	probably benign	Het
Or5ae1	T	G	7: 84,565,567 (GRCm39)	Y193*	probably null	Het
Or6b9	T	A	7: 106,555,598 (GRCm39)	I182F	possibly damaging	Het
Or6c2b	T	G	10: 128,947,904 (GRCm39)	Y130S	probably damaging	Het
Or8g55	T	A	9: 39,784,906 (GRCm39)	C112S	possibly damaging	Het
Pappa	C	A	4: 65,074,863 (GRCm39)	D472E	possibly damaging	Het
Pdxk	G	A	10: 78,287,319 (GRCm39)	L81F	probably damaging	Het
Pkhd1	G	T	1: 20,380,934 (GRCm39)	T2635K	probably damaging	Het
Psmb6	A	T	11: 70,417,248 (GRCm39)	H99L	possibly damaging	Het
Ptpn6	C	T	6: 124,705,623 (GRCm39)	G135E	probably benign	Het
Ptprz1	T	A	6: 22,972,844 (GRCm39)	D251E	probably benign	Het
Ralgapa1	A	G	12: 55,689,234 (GRCm39)	V1955A	possibly damaging	Het
Rsph4a	T	C	10: 33,781,148 (GRCm39)		probably benign	Het
Sh2d4b	T	C	14: 40,542,700 (GRCm39)	T359A	probably benign	Het
Sh3bp5l	A	G	11: 58,237,087 (GRCm39)	D348G	probably damaging	Het
Skint5	A	T	4: 113,797,932 (GRCm39)	M217K	probably damaging	Het
Slc30a6	T	C	17: 74,711,054 (GRCm39)	L49P	probably damaging	Het
Slc8a1	C	T	17: 81,956,173 (GRCm39)	M288I	probably benign	Het
Tmem127	C	A	2: 127,097,922 (GRCm39)		probably null	Het
Tnfrsf17	T	C	16: 11,131,811 (GRCm39)		probably benign	Het
Trak1	A	T	9: 121,277,967 (GRCm39)	N341I	probably damaging	Het
Wdr62	T	C	7: 29,944,709 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,880,216 (GRCm39)		probably benign	Het
Zscan10	C	T	17: 23,827,119 (GRCm39)	A144V	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
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
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

Posted On

2015-04-16