Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01642:Pax3'

93722

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pax3

Ensembl Gene

ENSMUSG00000004872

Gene Name

paired box 3

Synonyms

Splchl2, Pax-3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

IGL01642

Quality Score

Status

Chromosome

Chromosomal Location

78077904-78173771 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 78173300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004994] [ENSMUST00000087086]

AlphaFold

P24610

Predicted Effect

probably null
Transcript: ENSMUST00000004994

SMART Domains

Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872

Domain	Start	End	E-Value	Type
PAX	34	159	1.99e-91	SMART
low complexity region	164	185	N/A	INTRINSIC
HOX	219	281	6.6e-27	SMART
Pfam:Pax7	347	391	5.9e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000087086

SMART Domains

Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872

Domain	Start	End	E-Value	Type
PAX	34	159	1.99e-91	SMART
low complexity region	164	185	N/A	INTRINSIC
HOX	219	281	6.6e-27	SMART
Pfam:Pax7	346	391	5.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172555

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
PHENOTYPE: Effects on homozygotes for mutations in this gene vary in severity and include embryonic to perinatal death, malformations of neural tube, spinal ganglia, heart, vertebral column, hindbrain and limb musculature. Heterozygotes have white belly spots and variable spotting on the back and extremeties. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	G	11: 116,486,514 (GRCm39)	T18A	possibly damaging	Het
Abat	A	T	16: 8,418,783 (GRCm39)	I126F	possibly damaging	Het
Adcy6	G	A	15: 98,492,390 (GRCm39)	A958V	possibly damaging	Het
Ago2	T	C	15: 72,995,239 (GRCm39)	I447V	probably benign	Het
Arid1a	A	G	4: 133,409,155 (GRCm39)	V1784A	unknown	Het
Atp1b1	A	G	1: 164,285,330 (GRCm39)	F33L	probably benign	Het
Bpnt1	G	A	1: 185,086,238 (GRCm39)	V198I	probably benign	Het
Cemip2	T	A	19: 21,801,265 (GRCm39)	I794N	probably damaging	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Cgas	G	A	9: 78,344,680 (GRCm39)	P247L	probably damaging	Het
Clip3	G	A	7: 29,998,287 (GRCm39)	M244I	probably benign	Het
Clip3	A	T	7: 29,996,494 (GRCm39)		probably benign	Het
Cyp2a22	A	T	7: 26,638,184 (GRCm39)	N107K	possibly damaging	Het
Cyp2c23	A	T	19: 43,993,995 (GRCm39)	L457Q	probably damaging	Het
Dbr1	A	G	9: 99,458,031 (GRCm39)	Y17C	probably damaging	Het
Drc7	G	A	8: 95,785,767 (GRCm39)	V208I	probably benign	Het
Dst	T	A	1: 34,228,470 (GRCm39)	L2021Q	probably damaging	Het
E2f4	C	A	8: 106,027,968 (GRCm39)	P299T	probably damaging	Het
Eef1b2	T	C	1: 63,216,990 (GRCm39)	L53P	probably damaging	Het
Enpp3	T	C	10: 24,674,167 (GRCm39)	T378A	probably damaging	Het
Eps15	A	G	4: 109,223,670 (GRCm39)	N302S	probably benign	Het
Esrrg	G	A	1: 187,943,112 (GRCm39)	V362M	probably benign	Het
Gcc2	T	A	10: 58,116,434 (GRCm39)	N1014K	probably benign	Het
Gm3099	T	A	14: 15,346,476 (GRCm39)	M114K	possibly damaging	Het
Gnptab	C	T	10: 88,271,994 (GRCm39)	T928I	possibly damaging	Het
Gpd2	A	T	2: 57,158,083 (GRCm39)	R31*	probably null	Het
Impdh1	T	C	6: 29,207,165 (GRCm39)	T60A	possibly damaging	Het
Kcnab3	A	G	11: 69,221,256 (GRCm39)	E191G	probably benign	Het
Kcnh5	A	G	12: 75,011,943 (GRCm39)	S659P	probably damaging	Het
Kl	T	C	5: 150,904,334 (GRCm39)	I362T	possibly damaging	Het
Kpna4	A	G	3: 68,993,117 (GRCm39)	V414A	probably damaging	Het
Magi1	G	A	6: 93,663,605 (GRCm39)	P1111S	possibly damaging	Het
Myo18a	A	G	11: 77,755,558 (GRCm39)	D1965G	probably benign	Het
Nadsyn1	G	A	7: 143,351,615 (GRCm39)	P673S	probably damaging	Het
Naip2	A	G	13: 100,297,445 (GRCm39)	S864P	probably damaging	Het
Or10ak16	A	G	4: 118,750,658 (GRCm39)	Y126C	probably damaging	Het
Or2d2b	A	T	7: 106,706,029 (GRCm39)	I13N	possibly damaging	Het
Or2f1	G	T	6: 42,721,486 (GRCm39)	V172L	probably benign	Het
Paics	T	A	5: 77,109,357 (GRCm39)		probably benign	Het
Papss1	G	T	3: 131,288,996 (GRCm39)		probably benign	Het
Pgbd5	T	G	8: 125,110,941 (GRCm39)	Q159P	probably benign	Het
Pkd1	A	G	17: 24,800,266 (GRCm39)	Y3009C	probably damaging	Het
Pla2g4d	T	C	2: 120,111,117 (GRCm39)	T161A	probably damaging	Het
Podxl2	T	A	6: 88,820,529 (GRCm39)	Y521F	probably damaging	Het
Pramel34	A	G	5: 93,784,154 (GRCm39)	Y437H	possibly damaging	Het
Prmt2	C	T	10: 76,058,327 (GRCm39)	G161S	probably damaging	Het
Rft1	C	T	14: 30,398,825 (GRCm39)	T265I	probably damaging	Het
Rims2	T	A	15: 39,321,192 (GRCm39)	L736M	probably damaging	Het
Slf1	C	T	13: 77,198,034 (GRCm39)	A747T	probably benign	Het
Snx2	A	G	18: 53,349,519 (GRCm39)	K427E	probably damaging	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tnxb	A	G	17: 34,937,488 (GRCm39)	T3826A	probably damaging	Het
Tpp2	T	C	1: 43,993,813 (GRCm39)	Y233H	probably damaging	Het
Ubl4b	C	A	3: 107,462,147 (GRCm39)	E38*	probably null	Het
Usp5	A	T	6: 124,797,416 (GRCm39)	I486N	probably damaging	Het
Vmn1r193	A	C	13: 22,403,794 (GRCm39)	L66R	probably damaging	Het
Vps13b	T	C	15: 35,792,218 (GRCm39)	I2162T	probably benign	Het
Wipf2	T	C	11: 98,781,650 (GRCm39)	V63A	probably benign	Het
Zfp735	G	T	11: 73,601,305 (GRCm39)	C83F	possibly damaging	Het
Zfyve26	T	C	12: 79,308,348 (GRCm39)		probably null	Het

Other mutations in Pax3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02249:Pax3	APN	1	78,171,962 (GRCm39)	missense	probably damaging	0.98
IGL02271:Pax3	APN	1	78,171,969 (GRCm39)	missense	probably damaging	1.00
IGL02376:Pax3	APN	1	78,108,929 (GRCm39)	missense	probably damaging	1.00
IGL02530:Pax3	APN	1	78,098,424 (GRCm39)	missense	possibly damaging	0.87
IGL02950:Pax3	APN	1	78,079,997 (GRCm39)	missense	probably benign	0.06
Nidoqueen	UTSW	1	78,108,869 (GRCm39)	missense	probably damaging	1.00
Widget	UTSW	1	78,099,227 (GRCm39)	critical splice donor site	probably null
R0049:Pax3	UTSW	1	78,080,141 (GRCm39)	missense	probably damaging	1.00
R0049:Pax3	UTSW	1	78,080,141 (GRCm39)	missense	probably damaging	1.00
R0523:Pax3	UTSW	1	78,172,078 (GRCm39)	missense	possibly damaging	0.83
R1575:Pax3	UTSW	1	78,080,121 (GRCm39)	missense	probably benign	0.00
R1831:Pax3	UTSW	1	78,108,977 (GRCm39)	missense	probably damaging	1.00
R1934:Pax3	UTSW	1	78,080,117 (GRCm39)	missense	possibly damaging	0.90
R2420:Pax3	UTSW	1	78,173,501 (GRCm39)	splice site	probably null
R2473:Pax3	UTSW	1	78,099,227 (GRCm39)	critical splice donor site	probably null
R4430:Pax3	UTSW	1	78,171,961 (GRCm39)	missense	probably damaging	1.00
R4693:Pax3	UTSW	1	78,173,383 (GRCm39)	missense	probably benign	0.00
R4818:Pax3	UTSW	1	78,108,869 (GRCm39)	missense	probably damaging	1.00
R4860:Pax3	UTSW	1	78,169,093 (GRCm39)	missense	possibly damaging	0.78
R4860:Pax3	UTSW	1	78,169,093 (GRCm39)	missense	possibly damaging	0.78
R5302:Pax3	UTSW	1	78,098,249 (GRCm39)	missense	possibly damaging	0.88
R5475:Pax3	UTSW	1	78,080,055 (GRCm39)	missense	probably benign	0.06
R5855:Pax3	UTSW	1	78,098,288 (GRCm39)	missense	probably damaging	0.99
R6102:Pax3	UTSW	1	78,108,984 (GRCm39)	missense	probably damaging	1.00
R6190:Pax3	UTSW	1	78,169,186 (GRCm39)	missense	possibly damaging	0.63
R6856:Pax3	UTSW	1	78,109,056 (GRCm39)	missense	probably damaging	1.00
R7065:Pax3	UTSW	1	78,170,648 (GRCm39)	splice site	probably null
R7547:Pax3	UTSW	1	78,099,231 (GRCm39)	nonsense	probably null
R8059:Pax3	UTSW	1	78,080,003 (GRCm39)	missense	probably benign	0.04
R8224:Pax3	UTSW	1	78,098,327 (GRCm39)	missense	probably damaging	1.00
R8312:Pax3	UTSW	1	78,172,006 (GRCm39)	missense	probably damaging	1.00
R8324:Pax3	UTSW	1	78,170,426 (GRCm39)	missense	probably damaging	1.00
R9319:Pax3	UTSW	1	78,080,079 (GRCm39)	missense	probably benign
R9759:Pax3	UTSW	1	78,170,415 (GRCm39)	missense	probably damaging	1.00
Z1176:Pax3	UTSW	1	78,099,227 (GRCm39)	critical splice donor site	probably null

Posted On

2013-12-09