Mutagenetix > Incidental Mutation

Incidental Mutation 'R5917:Pelo'

461427

Institutional Source

Beutler Lab

Gene Symbol

Pelo

Ensembl Gene

ENSMUSG00000042275

Gene Name

pelota mRNA surveillance and ribosome rescue factor

Synonyms

MMRRC Submission

044114-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115224891-115226694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115225930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 176 (S176P)

Ref Sequence

ENSEMBL: ENSMUSP00000104849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061673] [ENSMUST00000109226] [ENSMUST00000224495] [ENSMUST00000224997]

AlphaFold

Q80X73

Predicted Effect

probably benign
Transcript: ENSMUST00000061673

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284

Domain	Start	End	E-Value	Type
Int_alpha	43	96	1.63e0	SMART
VWA	170	360	4.24e-44	SMART
Int_alpha	432	481	4.21e-3	SMART
Int_alpha	485	542	3.19e-12	SMART
Int_alpha	566	621	1.79e-15	SMART
Int_alpha	628	682	3.04e1	SMART
low complexity region	1108	1122	N/A	INTRINSIC
PDB:2L8S\|A	1135	1179	5e-10	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109226
AA Change: S176P

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104849
Gene: ENSMUSG00000042275
AA Change: S176P

Domain	Start	End	E-Value	Type
eRF1_1	1	130	9.4e-63	SMART
Pfam:eRF1_2	136	268	1.1e-38	PFAM
Pfam:eRF1_3	271	370	4.9e-28	PFAM
low complexity region	372	385	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224493

Predicted Effect

probably benign
Transcript: ENSMUST00000224495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224541

Predicted Effect

probably benign
Transcript: ENSMUST00000224997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225093

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with embryonic growth retardation, aneuploidy, polyploidy, and developmental failure past E7.5 due to defects in cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,516 (GRCm39)	R1153*	probably null	Het
Amdhd1	T	C	10: 93,360,332 (GRCm39)	H409R	possibly damaging	Het
Anks1b	C	T	10: 90,412,803 (GRCm39)		probably benign	Het
Ascc2	T	C	11: 4,631,506 (GRCm39)	L649P	probably benign	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Clec4a4	A	T	6: 122,981,017 (GRCm39)	K83N	probably benign	Het
Comp	T	A	8: 70,829,011 (GRCm39)		probably null	Het
Cryz	T	A	3: 154,327,403 (GRCm39)	S144T	probably benign	Het
Ctss	A	G	3: 95,450,424 (GRCm39)	D125G	probably benign	Het
Dact1	G	T	12: 71,365,456 (GRCm39)	V746L	possibly damaging	Het
Dhx29	A	G	13: 113,099,377 (GRCm39)	H1134R	probably damaging	Het
Dlgap4	A	G	2: 156,546,460 (GRCm39)	D376G	probably damaging	Het
Dnah3	T	A	7: 119,615,749 (GRCm39)	H1660L	probably damaging	Het
Ep300	T	A	15: 81,512,808 (GRCm39)		probably benign	Het
Fbxo30	A	T	10: 11,165,262 (GRCm39)		probably null	Het
Fcrl2	T	A	3: 87,164,094 (GRCm39)	H345L	probably damaging	Het
Galnt11	C	A	5: 25,452,670 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,682,846 (GRCm39)	C87R	probably benign	Het
Itga4	A	T	2: 79,117,442 (GRCm39)	Q416L	probably damaging	Het
Kcnt2	A	T	1: 140,461,666 (GRCm39)	T806S	probably damaging	Het
Lama2	A	G	10: 27,066,693 (GRCm39)	S1063P	probably damaging	Het
Lama4	T	A	10: 38,924,028 (GRCm39)	S479T	probably benign	Het
Lgi4	C	T	7: 30,759,603 (GRCm39)	T53M	possibly damaging	Het
Limk1	A	G	5: 134,686,789 (GRCm39)	F533L	probably damaging	Het
Loxl1	A	G	9: 58,220,006 (GRCm39)	L55P	probably damaging	Het
Map1a	A	G	2: 121,135,697 (GRCm39)	E1933G	probably damaging	Het
Matn2	T	A	15: 34,409,912 (GRCm39)	C447*	probably null	Het
Mmrn1	T	C	6: 60,950,134 (GRCm39)		probably null	Het
Or2a7	C	T	6: 43,151,646 (GRCm39)	S242F	probably damaging	Het
Or4a66	A	T	2: 88,531,049 (GRCm39)	I208N	possibly damaging	Het
Or4d1	A	T	11: 87,805,215 (GRCm39)	N172K	probably damaging	Het
Otor	A	G	2: 142,920,431 (GRCm39)	I4M	probably benign	Het
P2rx3	A	T	2: 84,865,591 (GRCm39)	V18E	probably damaging	Het
Pcdh7	T	C	5: 57,879,097 (GRCm39)	V884A	probably damaging	Het
Pcdhb4	T	A	18: 37,442,619 (GRCm39)	V643D	probably damaging	Het
Ppp2r3d	A	T	9: 101,089,183 (GRCm39)	V380E	probably benign	Het
Proc	T	A	18: 32,260,513 (GRCm39)	D204V	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Resf1	T	C	6: 149,236,179 (GRCm39)	F1500L	probably damaging	Het
Rtl1	T	G	12: 109,558,087 (GRCm39)	T1251P	possibly damaging	Het
Sema6a	T	G	18: 47,414,405 (GRCm39)	I482L	probably benign	Het
Smpdl3a	T	A	10: 57,681,654 (GRCm39)		probably null	Het
Strc	T	A	2: 121,209,790 (GRCm39)	M178L	probably benign	Het
Taok1	A	T	11: 77,451,144 (GRCm39)	M312K	probably damaging	Het
Tle2	T	C	10: 81,416,750 (GRCm39)		probably null	Het
Tle3	A	G	9: 61,316,190 (GRCm39)	D296G	probably benign	Het
Trank1	A	G	9: 111,191,485 (GRCm39)	D498G	probably benign	Het
Vars1	C	A	17: 35,231,491 (GRCm39)	L672M	probably damaging	Het
Vps13d	G	A	4: 144,826,580 (GRCm39)	T2866I	probably damaging	Het
Zfp423	C	A	8: 88,508,860 (GRCm39)	E370*	probably null	Het
Zfp521	T	A	18: 13,978,612 (GRCm39)	K600N	probably damaging	Het
Zfp788	A	G	7: 41,298,572 (GRCm39)	K351E	probably benign	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Pelo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01830:Pelo	APN	13	115,225,131 (GRCm39)	missense	probably damaging	1.00
IGL03303:Pelo	APN	13	115,225,197 (GRCm39)	missense	probably damaging	0.98
R0136:Pelo	UTSW	13	115,225,439 (GRCm39)	nonsense	probably null
R0299:Pelo	UTSW	13	115,225,439 (GRCm39)	nonsense	probably null
R4724:Pelo	UTSW	13	115,225,271 (GRCm39)	missense	probably damaging	1.00
R5567:Pelo	UTSW	13	115,226,152 (GRCm39)	missense	probably benign	0.05
R5570:Pelo	UTSW	13	115,226,152 (GRCm39)	missense	probably benign	0.05
R5587:Pelo	UTSW	13	115,226,409 (GRCm39)	missense	possibly damaging	0.50
R5919:Pelo	UTSW	13	115,225,845 (GRCm39)	missense	possibly damaging	0.88
R5931:Pelo	UTSW	13	115,225,379 (GRCm39)	missense	probably benign	0.00
R6011:Pelo	UTSW	13	115,226,302 (GRCm39)	missense	probably benign	0.01
R7838:Pelo	UTSW	13	115,226,184 (GRCm39)	missense	probably damaging	1.00
R8887:Pelo	UTSW	13	115,225,451 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TTACCTGAAGGAATTTGGAGCG -3'
(R):5'- GTTCACCCTGGCCAAGAAAC -3'

Sequencing Primer
(F):5'- AGCGGTTTTCCAGGAGCAC -3'
(R):5'- CCCTGGCCAAGAAACAGTGG -3'

Posted On

2017-02-28