Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02187:Paxx'

283683

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 #

IGL02187

Quality Score

Status

Chromosome

Chromosomal Location

25345153-25351106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25350668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 62 (L62P)

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: L62P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109899
Gene: ENSMUSG00000047617
AA Change: L62P

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: L62P

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

SMART Domains

Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617
AA Change: L62P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132596

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,439,826 (GRCm39)	E922D	possibly damaging	Het
Asxl3	T	A	18: 22,658,035 (GRCm39)	M2015K	probably damaging	Het
C8a	C	A	4: 104,719,933 (GRCm39)	R15L	probably damaging	Het
Catsperg2	A	G	7: 29,420,791 (GRCm39)	V47A	probably benign	Het
Cdhr2	C	T	13: 54,881,523 (GRCm39)	T1081I	possibly damaging	Het
Cenatac	C	T	9: 44,322,084 (GRCm39)		probably benign	Het
Cep85	T	A	4: 133,858,616 (GRCm39)	M752L	possibly damaging	Het
Cxcr3	T	A	X: 100,776,483 (GRCm39)	S60C	probably damaging	Het
Cyp24a1	T	A	2: 170,336,013 (GRCm39)	N208I	probably damaging	Het
Cyp2c38	A	G	19: 39,424,649 (GRCm39)	I223T	probably benign	Het
Dennd6a	A	G	14: 26,328,081 (GRCm39)	I35V	probably benign	Het
Emb	T	G	13: 117,405,507 (GRCm39)		probably benign	Het
Fbxo3	T	C	2: 103,858,295 (GRCm39)	Y30H	probably damaging	Het
Fnbp1l	G	A	3: 122,362,449 (GRCm39)	R120*	probably null	Het
Galnt2	T	C	8: 125,032,245 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,464,768 (GRCm39)		probably benign	Het
Gpr101	A	G	X: 56,546,841 (GRCm39)	F103S	probably damaging	Het
Gprasp1	T	A	X: 134,699,912 (GRCm39)	V35E	probably damaging	Het
Ift80	C	A	3: 68,892,789 (GRCm39)	W133L	probably damaging	Het
Impdh1	C	A	6: 29,207,086 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,275,938 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,269,657 (GRCm39)		probably null	Het
Klhl20	C	T	1: 160,937,280 (GRCm39)	V32I	probably benign	Het
Lrfn3	A	G	7: 30,055,389 (GRCm39)	S519P	probably damaging	Het
Mrpl51	A	G	6: 125,170,294 (GRCm39)	N100S	probably benign	Het
Mybpc3	T	C	2: 90,965,797 (GRCm39)	I1203T	probably benign	Het
Nbr1	A	G	11: 101,460,185 (GRCm39)	I394V	possibly damaging	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Or7g34	T	A	9: 19,478,393 (GRCm39)	T96S	probably benign	Het
Pan3	T	C	5: 147,463,398 (GRCm39)	I440T	probably benign	Het
Patz1	T	C	11: 3,241,134 (GRCm39)	L174P	probably damaging	Het
Plekhh1	T	C	12: 79,119,592 (GRCm39)	S972P	probably damaging	Het
Ppp1r13b	G	T	12: 111,801,472 (GRCm39)	T404K	probably damaging	Het
Prkaa2	T	C	4: 104,904,363 (GRCm39)	N238S	probably benign	Het
Prpf6	T	C	2: 181,257,809 (GRCm39)	Y94H	probably damaging	Het
Rtn4	T	C	11: 29,658,291 (GRCm39)	I815T	possibly damaging	Het
Slc44a5	A	G	3: 153,968,554 (GRCm39)	T582A	probably benign	Het
Slitrk3	A	G	3: 72,957,605 (GRCm39)	L389S	probably damaging	Het
Srp54b	T	A	12: 55,299,560 (GRCm39)	M297K	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zmym4	T	A	4: 126,764,066 (GRCm39)	I1325L	probably damaging	Het
Zswim2	C	A	2: 83,753,982 (GRCm39)	R226L	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
IGL02480:Paxx	APN	2	25,350,024 (GRCm39)	missense	probably damaging	1.00
IGL02563:Paxx	APN	2	25,349,674 (GRCm39)	makesense	probably null
IGL03060:Paxx	APN	2	25,350,196 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16