Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03060:Paxx'

409402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Paxx

Ensembl Gene

ENSMUSG00000047617

Gene Name

non-homologous end joining factor

Synonyms

D930050G13Rik, BC029214, paralog of XRCC4 and XLF

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL03060

Quality Score

Status

Chromosome

Chromosomal Location

25345153-25351106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25350196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 137 (L137P)

Ref Sequence

ENSEMBL: ENSMUSP00000120533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102918] [ENSMUST00000114261] [ENSMUST00000114265] [ENSMUST00000151239]

AlphaFold

Q8K0Y7

Predicted Effect

probably benign
Transcript: ENSMUST00000102918

SMART Domains

Protein: ENSMUSP00000099982
Gene: ENSMUSG00000015093

Domain	Start	End	E-Value	Type
Pfam:GST_N_3	17	89	9.8e-11	PFAM
Pfam:GST_N_2	20	84	1.6e-8	PFAM
Pfam:GST_C_2	77	207	6.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114261
AA Change: L137P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109899
Gene: ENSMUSG00000047617
AA Change: L137P

Domain	Start	End	E-Value	Type
Pfam:PAXX	10	205	5.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114265

SMART Domains

Protein: ENSMUSP00000109904
Gene: ENSMUSG00000015093

Domain	Start	End	E-Value	Type
Pfam:GST_N_3	19	91	2e-11	PFAM
Pfam:GST_N_2	22	86	3.6e-9	PFAM
Pfam:GST_C_2	80	209	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128560

Predicted Effect

probably damaging
Transcript: ENSMUST00000151239
AA Change: L137P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617
AA Change: L137P

Domain	Start	End	E-Value	Type
Pfam:DUF4610	8	156	2.2e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143862

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, developmentally normal and fertile but show increased mortality induced by ionizing radiation and a mild reduction in splenic lymphocyte numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	G	A	19: 56,902,682 (GRCm39)	Q720*	probably null	Het
Amph	A	G	13: 19,278,984 (GRCm39)	E153G	probably damaging	Het
Atad2	T	C	15: 57,985,842 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,450 (GRCm39)	D683G	probably damaging	Het
Cep152	C	T	2: 125,461,907 (GRCm39)		probably benign	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Dhrs2	C	A	14: 55,474,775 (GRCm39)	Q137K	probably benign	Het
Fam124a	A	G	14: 62,843,353 (GRCm39)	Y287C	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gm9637	G	A	14: 19,402,173 (GRCm38)		noncoding transcript	Het
Helz2	A	G	2: 180,871,015 (GRCm39)		probably null	Het
Iars1	G	A	13: 49,843,923 (GRCm39)		probably null	Het
Igll1	A	T	16: 16,680,291 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,196 (GRCm39)	Y361H	probably damaging	Het
Lrp1b	A	T	2: 40,527,765 (GRCm39)	H105Q	probably benign	Het
Mapk6	A	G	9: 75,305,084 (GRCm39)	M111T	probably damaging	Het
Mrtfa	G	A	15: 80,929,523 (GRCm39)	R27W	probably damaging	Het
Mt1	T	A	8: 94,906,522 (GRCm39)		probably benign	Het
Myh7b	A	T	2: 155,474,671 (GRCm39)	D1768V	probably damaging	Het
Myo6	A	T	9: 80,168,159 (GRCm39)	Q441L	probably benign	Het
Nt5c3b	A	T	11: 100,327,045 (GRCm39)	Y84N	probably damaging	Het
Ntmt2	T	C	1: 163,544,692 (GRCm39)	D97G	probably damaging	Het
Or1e29	A	G	11: 73,667,289 (GRCm39)	F288S	probably damaging	Het
Ptprz1	T	C	6: 22,972,834 (GRCm39)	V248A	probably damaging	Het
Rif1	T	A	2: 52,002,149 (GRCm39)	C1868S	probably damaging	Het
Sec23a	A	T	12: 59,032,891 (GRCm39)	C403S	probably benign	Het
Skint4	G	A	4: 111,975,432 (GRCm39)	V131I	probably benign	Het
Sugp2	T	C	8: 70,695,837 (GRCm39)	V270A	possibly damaging	Het
Tmed9	A	G	13: 55,743,321 (GRCm39)	D151G	possibly damaging	Het
Tubgcp4	A	G	2: 121,007,071 (GRCm39)		probably benign	Het
Uaca	A	G	9: 60,777,148 (GRCm39)	R512G	probably damaging	Het
Unc80	A	G	1: 66,676,169 (GRCm39)	Y1999C	possibly damaging	Het
Vwf	T	A	6: 125,640,523 (GRCm39)	C2320S	probably damaging	Het

Other mutations in Paxx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Paxx	APN	2	25,350,277 (GRCm39)	missense	probably damaging	0.99
IGL02187:Paxx	APN	2	25,350,668 (GRCm39)	missense	probably damaging	1.00
IGL02480:Paxx	APN	2	25,350,024 (GRCm39)	missense	probably damaging	1.00
IGL02563:Paxx	APN	2	25,349,674 (GRCm39)	makesense	probably null
R0357:Paxx	UTSW	2	25,350,079 (GRCm39)	missense	probably damaging	0.98
R1655:Paxx	UTSW	2	25,350,328 (GRCm39)	missense	probably damaging	1.00
R1968:Paxx	UTSW	2	25,350,640 (GRCm39)	intron	probably benign
R7166:Paxx	UTSW	2	25,350,238 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02