Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Pax3'

291104

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 #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

78077904-78173771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78108929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 243 (Y243C)

Ref Sequence

ENSEMBL: ENSMUSP00000084320 (fasta)

Gene Model

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

AlphaFold

P24610

Predicted Effect

probably damaging
Transcript: ENSMUST00000004994
AA Change: Y243C

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

SMART Domains

Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
AA Change: Y243C

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 damaging
Transcript: ENSMUST00000087086
AA Change: Y243C

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

SMART Domains

Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
AA Change: Y243C

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably damaging	Het

Other mutations in Pax3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Pax3	APN	1	78,173,300 (GRCm39)	critical splice donor site	probably null
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
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

2015-04-16