Mutagenetix > Incidental Mutation

Incidental Mutation 'R7065:Pax3'

568414

Institutional Source

Beutler Lab

Gene Symbol

Pax3

Ensembl Gene

ENSMUSG00000004872

Gene Name

paired box 3

Synonyms

Splchl2, Pax-3

MMRRC Submission

045161-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R7065 (G1)

Quality Score

155.008

Status

Validated

Chromosome

Chromosomal Location

78077904-78173771 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78170648 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,074,233 (GRCm39)	S1150Y	probably damaging	Het
Abca13	T	A	11: 9,242,595 (GRCm39)	V1486E	probably benign	Het
Abca17	T	A	17: 24,546,725 (GRCm39)	Y292F	probably damaging	Het
Adam3	A	G	8: 25,201,691 (GRCm39)		probably null	Het
Ankmy2	G	A	12: 36,237,707 (GRCm39)	E269K	probably damaging	Het
Cdan1	A	G	2: 120,549,402 (GRCm39)	S1201P	probably benign	Het
Cep57	T	C	9: 13,729,677 (GRCm39)	Y122C	probably damaging	Het
Cfh	T	A	1: 140,014,140 (GRCm39)	Y1210F	probably damaging	Het
Cflar	T	G	1: 58,770,368 (GRCm39)	L154V	probably damaging	Het
Chmp4b	A	G	2: 154,533,162 (GRCm39)	D134G	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Ctnna1	A	T	18: 35,285,669 (GRCm39)	H5L	probably benign	Het
Cyp2e1	T	A	7: 140,343,906 (GRCm39)	L48Q	probably damaging	Het
Dnah6	T	G	6: 73,064,545 (GRCm39)	Q2627P	possibly damaging	Het
Ehmt1	T	C	2: 24,730,709 (GRCm39)	D569G	probably damaging	Het
Frmd4a	G	A	2: 4,570,923 (GRCm39)			Het
Fryl	T	C	5: 73,248,099 (GRCm39)	D1006G	probably damaging	Het
Gclm	A	G	3: 122,056,320 (GRCm39)	N137D	probably benign	Het
Gk5	A	G	9: 96,061,109 (GRCm39)	Y531C	probably damaging	Het
Gpm6a	C	A	8: 55,490,493 (GRCm39)	N56K	probably benign	Het
Grik4	A	C	9: 42,455,127 (GRCm39)	V656G	probably damaging	Het
Grip2	C	A	6: 91,760,550 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,697,764 (GRCm39)	K636E	probably damaging	Het
Ifi44l	A	G	3: 151,465,429 (GRCm39)	I107T		Het
Kif1b	T	C	4: 149,286,982 (GRCm39)	T1237A	possibly damaging	Het
Klk1b11	A	G	7: 43,648,386 (GRCm39)	D131G	probably benign	Het
Lipe	A	G	7: 25,084,603 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Madd	A	T	2: 90,985,402 (GRCm39)	M1273K	probably benign	Het
Matn3	T	A	12: 9,002,472 (GRCm39)	M228K	probably damaging	Het
Mterf4	T	A	1: 93,232,617 (GRCm39)	H78L	probably benign	Het
Ncoa4	T	A	14: 31,894,857 (GRCm39)	L128*	probably null	Het
Nedd4l	A	G	18: 65,329,040 (GRCm39)	N627S	probably benign	Het
Niban1	A	G	1: 151,575,858 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,919,189 (GRCm39)	Y1279C	probably damaging	Het
Nrp1	C	A	8: 129,187,193 (GRCm39)	T413N	probably benign	Het
Opn4	C	A	14: 34,317,834 (GRCm39)	A267S	probably benign	Het
Or4c11c	A	T	2: 88,661,730 (GRCm39)	I90F	probably damaging	Het
Or5ak24	A	G	2: 85,260,523 (GRCm39)	Y217H	probably damaging	Het
Or5al6	A	C	2: 85,976,345 (GRCm39)	H244Q	probably damaging	Het
Or5p78	G	A	7: 108,212,266 (GRCm39)	V251I	probably damaging	Het
Pcdha12	A	G	18: 37,154,679 (GRCm39)	E466G	probably damaging	Het
Pdzk1	A	G	3: 96,775,748 (GRCm39)	E372G	probably benign	Het
Pigs	T	A	11: 78,227,565 (GRCm39)	V243D	possibly damaging	Het
Pla2g5	C	A	4: 138,527,915 (GRCm39)	C117F	probably damaging	Het
Ppt2	A	G	17: 34,841,829 (GRCm39)	S236P	probably damaging	Het
Raver1	T	C	9: 21,001,590 (GRCm39)	D81G	probably benign	Het
Rpgrip1	T	C	14: 52,378,650 (GRCm39)	L525P	possibly damaging	Het
Ryr1	T	C	7: 28,803,068 (GRCm39)	E662G	probably damaging	Het
Scaf8	G	A	17: 3,209,486 (GRCm39)	V66M	probably damaging	Het
Scn3a	A	C	2: 65,295,199 (GRCm39)	L1508R	probably benign	Het
Semp2l2b	T	C	10: 21,943,197 (GRCm39)	D261G	probably benign	Het
Slfn8	T	C	11: 82,907,794 (GRCm39)	R250G	probably benign	Het
Speer4d	A	C	5: 15,825,421 (GRCm39)	T49P	probably damaging	Het
Spice1	T	A	16: 44,175,898 (GRCm39)	D32E	probably damaging	Het
Stt3b	A	G	9: 115,095,224 (GRCm39)	L269P	probably damaging	Het
Ttn	A	G	2: 76,628,456 (GRCm39)	I14568T	possibly damaging	Het
U2surp	T	C	9: 95,367,712 (GRCm39)	T413A	probably benign	Het
Ubr3	A	G	2: 69,784,049 (GRCm39)	E755G	probably damaging	Het
Unc5a	A	T	13: 55,138,896 (GRCm39)	S92C	probably damaging	Het
Zfat	T	C	15: 68,052,969 (GRCm39)	Y275C	probably damaging	Het
Zfp874a	A	T	13: 67,590,401 (GRCm39)	S428T	probably damaging	Het
Zfy1	A	G	Y: 725,428 (GRCm39)	V779A	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
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
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'- AAACATGCCCGGGTTCTCTC -3'
(R):5'- TCACCCAAATCTGCCCTTAG -3'

Sequencing Primer
(F):5'- ATGCCCGGGTTCTCTCTTTTG -3'
(R):5'- AGCTTAGATCTGATCTCCATGGAC -3'

Posted On

2019-07-17