Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02480:Paxx'

295177

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 #

IGL02480

Quality Score

Status

Chromosome

Chromosomal Location

25345153-25351106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25350024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 164 (P164S)

Ref Sequence

ENSEMBL: ENSMUSP00000109899 (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: P164S

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

SMART Domains

Protein: ENSMUSP00000109899
Gene: ENSMUSG00000047617
AA Change: P164S

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

noncoding transcript
Transcript: ENSMUST00000138079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143862

Predicted Effect

probably benign
Transcript: ENSMUST00000151239

SMART Domains

Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,946,908 (GRCm39)	I202K	probably benign	Het
Abcc1	T	A	16: 14,221,869 (GRCm39)	S169T	possibly damaging	Het
Acsm1	A	T	7: 119,255,265 (GRCm39)	I389F	possibly damaging	Het
Actn2	T	A	13: 12,291,364 (GRCm39)	Q680L	probably benign	Het
Ankrd13d	G	A	19: 4,321,491 (GRCm39)	P404S	possibly damaging	Het
Ankrd46	G	T	15: 36,484,142 (GRCm39)		probably benign	Het
Arfip1	A	G	3: 84,455,239 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,570,745 (GRCm39)	L574F	probably damaging	Het
Cym	T	C	3: 107,120,838 (GRCm39)	I256V	probably benign	Het
Cyp3a44	C	T	5: 145,731,715 (GRCm39)	E144K	possibly damaging	Het
Efna1	T	C	3: 89,179,902 (GRCm39)	E109G	probably benign	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
Eml1	C	A	12: 108,487,955 (GRCm39)	Q556K	probably benign	Het
Eml5	T	G	12: 98,842,502 (GRCm39)	T199P	probably damaging	Het
Entr1	T	A	2: 26,275,132 (GRCm39)	H342L	probably damaging	Het
Etl4	A	C	2: 20,793,335 (GRCm39)	M687L	probably damaging	Het
Fam199x	C	A	X: 135,950,788 (GRCm39)	T56K	probably damaging	Het
Fat4	A	G	3: 39,064,579 (GRCm39)	D4845G	probably damaging	Het
Gm4987	T	A	X: 45,544,973 (GRCm39)		noncoding transcript	Het
Gm5828	C	A	1: 16,839,766 (GRCm39)		noncoding transcript	Het
Gm5930	T	C	14: 44,575,087 (GRCm39)	Y68C	probably benign	Het
Gucy1a1	C	T	3: 82,005,040 (GRCm39)	V582M	probably damaging	Het
Haghl	G	T	17: 26,002,033 (GRCm39)	A220E	probably damaging	Het
Hsf5	G	A	11: 87,522,483 (GRCm39)	A359T	possibly damaging	Het
Igsf9	C	A	1: 172,324,480 (GRCm39)	D799E	possibly damaging	Het
Igsf9	A	T	1: 172,312,345 (GRCm39)		probably benign	Het
Itga1	A	T	13: 115,124,184 (GRCm39)	F703I	probably damaging	Het
Kcna6	G	A	6: 126,715,531 (GRCm39)	P453S	probably damaging	Het
Lzic	A	T	4: 149,571,260 (GRCm39)	N15I	probably damaging	Het
Or1j10	T	G	2: 36,267,504 (GRCm39)	C239G	probably damaging	Het
Or2n1d	A	G	17: 38,646,314 (GRCm39)	R89G	probably benign	Het
Or4f54	A	G	2: 111,122,858 (GRCm39)	I82V	possibly damaging	Het
Or5p78	C	T	7: 108,212,018 (GRCm39)	T168I	probably benign	Het
P4ha1	T	C	10: 59,179,574 (GRCm39)	Y141H	probably damaging	Het
Pgd	A	G	4: 149,241,075 (GRCm39)	V278A	probably damaging	Het
Pik3c2g	A	G	6: 139,798,526 (GRCm39)	Y352C	probably damaging	Het
Pkd2l2	A	G	18: 34,571,843 (GRCm39)	N614S	possibly damaging	Het
Poli	T	C	18: 70,658,477 (GRCm39)	T86A	probably benign	Het
Psd2	G	A	18: 36,139,136 (GRCm39)	R528H	probably damaging	Het
Ptchd4	G	T	17: 42,813,431 (GRCm39)	C444F	probably benign	Het
Ptpra	C	A	2: 130,346,181 (GRCm39)	T114K	probably benign	Het
Rho	A	G	6: 115,912,505 (GRCm39)	N123S	probably benign	Het
Setd5	A	G	6: 113,120,770 (GRCm39)	D993G	probably damaging	Het
Slc1a2	T	C	2: 102,566,411 (GRCm39)	L38P	probably damaging	Het
Slc2a7	G	A	4: 150,244,569 (GRCm39)	V346M	possibly damaging	Het
Slc43a1	A	G	2: 84,669,928 (GRCm39)	I7V	probably benign	Het
Spag9	C	T	11: 93,999,413 (GRCm39)	Q691*	probably null	Het
Timmdc1	A	T	16: 38,342,763 (GRCm39)	V45D	probably null	Het
Tlr8	T	A	X: 166,027,179 (GRCm39)	H557L	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
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