Mutagenetix > Incidental Mutation

Incidental Mutation 'R3845:Upf3a'

277326

Institutional Source

Beutler Lab

Gene Symbol

Upf3a

Ensembl Gene

ENSMUSG00000038398

Gene Name

UPF3 regulator of nonsense transcripts homolog A (yeast)

Synonyms

RENT3A, 2600001C03Rik, 4930546M19Rik, UPF3

MMRRC Submission

040893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13835615-13849193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13848238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 345 (T345S)

Ref Sequence

ENSEMBL: ENSMUSP00000037354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043767]

AlphaFold

Q3ULJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000043767
AA Change: T345S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037354
Gene: ENSMUSG00000038398
AA Change: T345S

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
Pfam:Smg4_UPF3	63	224	1.4e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211724

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The gene product protects against mRNA transcript degradation. Homozygous constitutive KO is embryonic lethal. Homozygous conditional KO in testes leads to reduced male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,079,669 (GRCm39)	N185S	probably benign	Het
Apool	A	T	X: 111,274,155 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,416,540 (GRCm39)	N439S	probably null	Het
AU041133	T	A	10: 81,987,152 (GRCm39)	H268Q	probably damaging	Het
Ccdc136	C	T	6: 29,417,176 (GRCm39)	R666W	probably benign	Het
Ccdc97	T	C	7: 25,414,453 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,839,583 (GRCm39)	V336A	possibly damaging	Het
Chd3	T	C	11: 69,237,585 (GRCm39)	N1870D	possibly damaging	Het
Col5a3	C	T	9: 20,719,673 (GRCm39)	D229N	unknown	Het
Cpn1	G	T	19: 43,962,523 (GRCm39)	P142Q	possibly damaging	Het
Cubn	T	C	2: 13,287,819 (GRCm39)	D3420G	probably damaging	Het
Cyp2u1	A	G	3: 131,087,135 (GRCm39)	F482S	possibly damaging	Het
Foxo1	T	A	3: 52,253,701 (GRCm39)	D621E	probably benign	Het
Grid2	A	G	6: 64,322,826 (GRCm39)	M609V	possibly damaging	Het
Hsd17b3	A	T	13: 64,236,876 (GRCm39)	F23I	possibly damaging	Het
Kcnk10	A	G	12: 98,407,003 (GRCm39)	I217T	probably benign	Het
Mis18bp1	G	A	12: 65,195,916 (GRCm39)	S616L	possibly damaging	Het
Mtch1	A	T	17: 29,561,806 (GRCm39)	F133I	probably damaging	Het
Myh4	T	A	11: 67,149,931 (GRCm39)	V1830E	possibly damaging	Het
Nav3	T	C	10: 109,689,237 (GRCm39)	M347V	possibly damaging	Het
Nbea	A	G	3: 55,993,713 (GRCm39)		probably benign	Het
Nhej1	A	T	1: 75,008,042 (GRCm39)	D76E	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or5m12	A	C	2: 85,735,081 (GRCm39)	C106G	probably damaging	Het
Pias3	T	C	3: 96,609,526 (GRCm39)	V307A	probably benign	Het
Pltp	T	A	2: 164,696,208 (GRCm39)	M135L	probably benign	Het
Plxna2	A	G	1: 194,476,098 (GRCm39)	Y1106C	probably damaging	Het
Pramel26	T	C	4: 143,538,545 (GRCm39)	E142G	probably damaging	Het
Ptgir	G	A	7: 16,641,311 (GRCm39)	R201H	probably damaging	Het
Ptk7	A	T	17: 46,897,344 (GRCm39)	D329E	probably benign	Het
Pygl	T	C	12: 70,245,217 (GRCm39)	D411G	probably benign	Het
Rev1	A	T	1: 38,138,069 (GRCm39)	M72K	probably damaging	Het
Sfrp1	T	C	8: 23,902,264 (GRCm39)	L155P	probably damaging	Het
Slc5a4a	A	G	10: 76,024,983 (GRCm39)	E620G	probably damaging	Het
Smarca2	A	G	19: 26,698,273 (GRCm39)	I1314V	probably benign	Het
Tas2r109	G	A	6: 132,957,766 (GRCm39)	L55F	probably damaging	Het
Tek	T	A	4: 94,693,109 (GRCm39)	C274S	probably damaging	Het
Tektl1	T	C	10: 78,584,532 (GRCm39)	N330S	probably benign	Het
Tent4b	A	T	8: 88,977,292 (GRCm39)	I322F	possibly damaging	Het
Tmem38b	T	A	4: 53,859,905 (GRCm39)	D228E	probably benign	Het
Topbp1	T	C	9: 103,187,122 (GRCm39)	V109A	possibly damaging	Het
Trbv5	A	G	6: 41,039,682 (GRCm39)	I96V	probably benign	Het
Trim16	T	G	11: 62,727,498 (GRCm39)		probably benign	Het
Usp15	A	G	10: 122,955,040 (GRCm39)	S913P	probably damaging	Het
Vmn2r124	T	A	17: 18,293,953 (GRCm39)	V680D	possibly damaging	Het
Vmn2r91	G	A	17: 18,327,860 (GRCm39)	V485I	probably benign	Het
Zdbf2	A	T	1: 63,347,483 (GRCm39)	H1954L	possibly damaging	Het

Other mutations in Upf3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01398:Upf3a	APN	8	13,836,221 (GRCm39)	missense	probably damaging	0.98
IGL01678:Upf3a	APN	8	13,841,930 (GRCm39)	missense	probably benign	0.21
IGL02072:Upf3a	APN	8	13,848,368 (GRCm39)	missense	probably damaging	0.99
R0309:Upf3a	UTSW	8	13,845,500 (GRCm39)	splice site	probably null
R0564:Upf3a	UTSW	8	13,845,656 (GRCm39)	missense	probably benign	0.42
R0571:Upf3a	UTSW	8	13,842,184 (GRCm39)	missense	probably damaging	0.98
R0826:Upf3a	UTSW	8	13,848,338 (GRCm39)	missense	possibly damaging	0.65
R1387:Upf3a	UTSW	8	13,842,118 (GRCm39)	missense	probably damaging	1.00
R1913:Upf3a	UTSW	8	13,842,108 (GRCm39)	missense	probably damaging	1.00
R2072:Upf3a	UTSW	8	13,835,850 (GRCm39)	missense	possibly damaging	0.63
R2520:Upf3a	UTSW	8	13,846,443 (GRCm39)	splice site	probably null
R4239:Upf3a	UTSW	8	13,846,591 (GRCm39)	missense	probably benign	0.28
R4424:Upf3a	UTSW	8	13,846,573 (GRCm39)	missense	probably benign	0.09
R5522:Upf3a	UTSW	8	13,845,497 (GRCm39)	critical splice donor site	probably null
R6321:Upf3a	UTSW	8	13,837,466 (GRCm39)	missense	possibly damaging	0.53
R6922:Upf3a	UTSW	8	13,841,911 (GRCm39)	missense	probably damaging	1.00
R7583:Upf3a	UTSW	8	13,835,889 (GRCm39)	splice site	probably null
R7585:Upf3a	UTSW	8	13,837,418 (GRCm39)	missense	probably damaging	1.00
R7695:Upf3a	UTSW	8	13,848,279 (GRCm39)	missense	probably benign	0.01
R7991:Upf3a	UTSW	8	13,842,166 (GRCm39)	missense	probably damaging	1.00
R8913:Upf3a	UTSW	8	13,845,728 (GRCm39)	missense	possibly damaging	0.94
R9638:Upf3a	UTSW	8	13,848,343 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTTGAATATGTGAGCCCATG -3'
(R):5'- AGGCTGTCATACTCCTTGTGC -3'

Sequencing Primer
(F):5'- TGCGAACCTCAGCTCTGTAG -3'
(R):5'- GTCATACTCCTTGTGCTCCTTG -3'

Posted On

2015-04-06