Mutagenetix > Incidental Mutation

Incidental Mutation 'R0523:Pax3'

48667

Institutional Source

Beutler Lab

Gene Symbol

Pax3

Ensembl Gene

ENSMUSG00000004872

Gene Name

paired box 3

Synonyms

Splchl2, Pax-3

MMRRC Submission

038716-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R0523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78077904-78173771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78172078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 44 (V44A)

Ref Sequence

ENSEMBL: ENSMUSP00000084320 (fasta)

Gene Model

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

AlphaFold

P24610

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004994
AA Change: V44A

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
AA Change: V44A

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

possibly damaging
Transcript: ENSMUST00000087086
AA Change: V44A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
AA Change: V44A

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

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,289 (GRCm39)	D807G	possibly damaging	Het
Actl9	T	A	17: 33,652,323 (GRCm39)	W128R	probably damaging	Het
Aggf1	T	C	13: 95,492,924 (GRCm39)	I562V	probably damaging	Het
Ano3	T	A	2: 110,715,200 (GRCm39)	E79D	probably benign	Het
Apobec1	T	A	6: 122,558,504 (GRCm39)	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,562,637 (GRCm39)	F458L	possibly damaging	Het
Bco2	A	T	9: 50,445,926 (GRCm39)	V490E	probably damaging	Het
Catsperg1	G	A	7: 28,884,615 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,054,292 (GRCm39)	K111R	probably damaging	Het
Cfap54	T	C	10: 92,744,745 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,148,736 (GRCm39)	P231S	probably damaging	Het
Cplane1	T	A	15: 8,223,870 (GRCm39)	Y878N	probably damaging	Het
Cpox	T	A	16: 58,495,608 (GRCm39)	C308*	probably null	Het
Cracdl	A	T	1: 37,683,710 (GRCm39)	M1K	probably null	Het
Ctnna3	T	G	10: 64,511,688 (GRCm39)	M626R	probably damaging	Het
Cyp2c68	T	C	19: 39,727,873 (GRCm39)	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,505,475 (GRCm39)	R330W	probably damaging	Het
Diaph1	C	T	18: 37,989,553 (GRCm39)	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,668,750 (GRCm39)	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,692,852 (GRCm39)	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716 (GRCm39)	R416H	probably damaging	Het
Eef1d	T	C	15: 75,775,005 (GRCm39)	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,818,984 (GRCm39)	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,272,577 (GRCm39)		probably null	Het
Fcrl5	T	C	3: 87,365,099 (GRCm39)	S583P	possibly damaging	Het
Garin5b	A	G	7: 4,762,392 (GRCm39)	S246P	possibly damaging	Het
Grid2ip	C	A	5: 143,358,798 (GRCm39)	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,746,262 (GRCm39)	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,354,428 (GRCm39)		probably null	Het
Igf2r	T	C	17: 12,910,951 (GRCm39)	I1956V	probably benign	Het
Impdh2	A	T	9: 108,439,018 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,019 (GRCm39)	T96I	possibly damaging	Het
Lactb	C	G	9: 66,877,974 (GRCm39)	G285A	probably benign	Het
Lrrc43	T	C	5: 123,639,305 (GRCm39)	S445P	probably damaging	Het
Mapk12	T	G	15: 89,019,848 (GRCm39)	M120L	probably benign	Het
Mroh8	C	G	2: 157,065,956 (GRCm39)	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,022,844 (GRCm39)	H373Q	probably benign	Het
Myocd	A	G	11: 65,071,728 (GRCm39)	V740A	probably damaging	Het
Naprt	A	G	15: 75,764,314 (GRCm39)	F300S	probably damaging	Het
Ncam2	T	C	16: 81,258,531 (GRCm39)	I271T	probably damaging	Het
Nek4	A	G	14: 30,701,995 (GRCm39)	T582A	probably benign	Het
Notch2	G	A	3: 98,018,914 (GRCm39)	R692H	probably benign	Het
Notch2	C	T	3: 97,978,286 (GRCm39)	T89I	probably benign	Het
Nt5c3	A	T	6: 56,860,666 (GRCm39)	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Oas3	T	C	5: 120,904,209 (GRCm39)	Q555R	unknown	Het
Or2ag17	A	G	7: 106,389,533 (GRCm39)	V225A	probably damaging	Het
Or5p69	A	T	7: 107,967,438 (GRCm39)	H247L	probably damaging	Het
Or9g19	T	A	2: 85,600,273 (GRCm39)	S43T	probably benign	Het
P3h1	C	A	4: 119,098,727 (GRCm39)	Q410K	probably benign	Het
Pde1c	T	A	6: 56,151,926 (GRCm39)	L252F	probably damaging	Het
Pdzd7	T	A	19: 45,024,529 (GRCm39)	T497S	probably benign	Het
Piezo2	T	C	18: 63,155,552 (GRCm39)	T253A	probably damaging	Het
Pipox	T	C	11: 77,782,965 (GRCm39)	E79G	probably damaging	Het
Pole	G	T	5: 110,451,459 (GRCm39)	M829I	probably damaging	Het
Ppp1r12c	A	T	7: 4,492,771 (GRCm39)	L156Q	probably damaging	Het
Psme2b	T	G	11: 48,836,609 (GRCm39)	T113P	probably damaging	Het
Ptprq	A	G	10: 107,416,081 (GRCm39)	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,620,021 (GRCm39)	T174A	probably damaging	Het
Rcor3	T	G	1: 191,814,736 (GRCm39)	D81A	probably damaging	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Rnf11	T	C	4: 109,314,119 (GRCm39)	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,881,410 (GRCm39)		probably benign	Het
Smad2	T	A	18: 76,395,623 (GRCm39)	S21T	probably benign	Het
Smc4	A	G	3: 68,933,221 (GRCm39)	D639G	probably damaging	Het
Smtn	A	T	11: 3,474,664 (GRCm39)	S716T	possibly damaging	Het
Smug1	G	T	15: 103,064,136 (GRCm39)	Q262K	probably benign	Het
Sspo	G	T	6: 48,428,794 (GRCm39)	G403V	probably benign	Het
Tas2r131	A	G	6: 132,934,414 (GRCm39)	F132L	possibly damaging	Het
Tgm3	T	C	2: 129,886,582 (GRCm39)		probably null	Het
Tigd2	C	T	6: 59,187,358 (GRCm39)	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,038,413 (GRCm39)	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim47	A	G	11: 115,998,716 (GRCm39)	L301S	probably damaging	Het
Trim75	G	A	8: 65,436,442 (GRCm39)	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tsbp1	G	T	17: 34,664,473 (GRCm39)		probably null	Het
Ttc29	G	C	8: 79,003,466 (GRCm39)	L227F	probably benign	Het
Ttc39d	G	A	17: 80,523,886 (GRCm39)	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,129,818 (GRCm39)	R164*	probably null	Het
Ufsp2	T	A	8: 46,449,780 (GRCm39)	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,399,691 (GRCm39)	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,196 (GRCm39)	V833A	probably benign	Het
Zbbx	T	C	3: 74,989,165 (GRCm39)	T308A	probably benign	Het
Zfp933	G	A	4: 147,910,919 (GRCm39)	Q226*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCTTTAGAACGCGCCCACTCTG -3'
(R):5'- AGGACTTTGAGGCAGTTATCGCAAG -3'

Sequencing Primer
(F):5'- TGGATCACAGGCCCTAAGTC -3'
(R):5'- AGATTATATGACCTTGCATCGGG -3'

Posted On

2013-06-12