Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Pax3'

355004

Institutional Source

Beutler Lab

Gene Symbol

Pax3

Ensembl Gene

ENSMUSG00000004872

Gene Name

paired box 3

Synonyms

Splchl2, Pax-3

MMRRC Submission

041944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78077904-78173771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78173383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000084320 (fasta)

Gene Model

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

AlphaFold

P24610

Predicted Effect

probably benign
Transcript: ENSMUST00000004994
AA Change: T2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
AA Change: T2A

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 benign
Transcript: ENSMUST00000087086
AA Change: T2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
AA Change: T2A

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

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGGTTGAGAAGTACCACG -3'
(R):5'- ATCCTGCACTCAAGGGACTC -3'

Sequencing Primer
(F):5'- TACCACGGGAAGAGGCTC -3'
(R):5'- TGCACTCAAGGGACTCCTCTG -3'

Posted On

2015-10-21