Mutagenetix > Incidental Mutation

Incidental Mutation 'R0266:Pax7'

34915

Institutional Source

Beutler Lab

Gene Symbol

Pax7

Ensembl Gene

ENSMUSG00000028736

Gene Name

paired box 7

Synonyms

Pax-7

MMRRC Submission

038492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139464373-139560839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139507047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 330 (S330L)

Ref Sequence

ENSEMBL: ENSMUSP00000030508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030508] [ENSMUST00000174681]

AlphaFold

P47239

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030508
AA Change: S330L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: S330L

Domain	Start	End	E-Value	Type
PAX	34	159	2.07e-89	SMART
low complexity region	163	181	N/A	INTRINSIC
HOX	215	277	1.46e-28	SMART
Pfam:Pax7	342	383	1.1e-23	PFAM
low complexity region	413	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174681
AA Change: S332L

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: S332L

Domain	Start	End	E-Value	Type
PAX	34	161	1.3e-86	SMART
low complexity region	165	183	N/A	INTRINSIC
HOX	217	279	1.46e-28	SMART
Pfam:Pax7	345	385	1.3e-22	PFAM
low complexity region	415	429	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 94.9%
20x: 89.8%

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 this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit craniofacial malformations involving the nose and maxilla, and die within three weeks after birth. Mice homozygous for floxed alleles activated in muscle cells exhibit reduced satellite cell numbers and impaired muscle regeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,635,188 (GRCm39)	S117P	possibly damaging	Het
Aars2	T	C	17: 45,818,436 (GRCm39)		probably benign	Het
Acot11	T	C	4: 106,607,185 (GRCm39)	D466G	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Apbb2	A	T	5: 66,459,954 (GRCm39)	N714K	probably benign	Het
Aqp12	C	A	1: 92,934,572 (GRCm39)	H150N	possibly damaging	Het
Brinp3	T	A	1: 146,558,418 (GRCm39)	L114*	probably null	Het
Ccng2	T	C	5: 93,419,148 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,003,250 (GRCm39)	R265S	probably benign	Het
Ces4a	T	C	8: 105,868,598 (GRCm39)	L104S	probably benign	Het
Clca4b	T	C	3: 144,628,547 (GRCm39)	I387V	probably damaging	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Ddx60	A	T	8: 62,486,527 (GRCm39)	H1646L	possibly damaging	Het
Dntt	T	C	19: 41,047,566 (GRCm39)	I503T	probably damaging	Het
Dynlt1a	T	G	17: 6,367,670 (GRCm39)	E2D	probably benign	Het
Efemp2	G	T	19: 5,528,027 (GRCm39)	C78F	probably damaging	Het
Esco1	T	C	18: 10,594,605 (GRCm39)	E227G	probably benign	Het
Fezf2	T	A	14: 12,342,607 (GRCm38)	K419N	probably damaging	Het
Gm17541	A	T	12: 4,739,487 (GRCm39)		probably benign	Het
Gm2381	G	A	7: 42,469,372 (GRCm39)	Q251*	probably null	Het
Gm4782	T	G	6: 50,587,674 (GRCm39)	S686R	probably damaging	Het
Grin3a	G	A	4: 49,665,501 (GRCm39)	R1045*	probably null	Het
Grm8	T	C	6: 27,285,895 (GRCm39)	Y839C	probably damaging	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc2	T	A	7: 55,856,326 (GRCm39)	H3921Q	probably damaging	Het
Hes6	A	T	1: 91,340,026 (GRCm39)	D143E	possibly damaging	Het
Hmcn2	A	G	2: 31,284,839 (GRCm39)	E2055G	probably benign	Het
Hmcn2	G	A	2: 31,335,365 (GRCm39)		probably benign	Het
Ikzf3	A	G	11: 98,358,143 (GRCm39)	L398P	probably benign	Het
Il10ra	A	T	9: 45,176,950 (GRCm39)	I125N	probably benign	Het
Kcnb2	G	A	1: 15,783,137 (GRCm39)		probably benign	Het
Krt77	T	C	15: 101,777,813 (GRCm39)	R81G	possibly damaging	Het
Lrrc40	T	A	3: 157,747,298 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,489,350 (GRCm39)	R543Q	probably damaging	Het
Mansc1	T	C	6: 134,587,670 (GRCm39)	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835 (GRCm39)	S3869T	probably damaging	Het
Mettl14	A	T	3: 123,176,475 (GRCm39)	S58T	probably benign	Het
Mrpl4	T	C	9: 20,914,610 (GRCm39)	V62A	probably benign	Het
Myh3	A	G	11: 66,984,498 (GRCm39)	D1085G	possibly damaging	Het
Myo5c	C	A	9: 75,191,498 (GRCm39)		probably benign	Het
Naalad2	G	T	9: 18,262,239 (GRCm39)		probably benign	Het
Nat3	A	G	8: 68,000,432 (GRCm39)	T104A	probably benign	Het
Nek4	A	G	14: 30,679,253 (GRCm39)	E198G	probably damaging	Het
Olfm1	A	G	2: 28,119,619 (GRCm39)	Y403C	probably damaging	Het
Or5w11	C	A	2: 87,459,626 (GRCm39)	T273K	possibly damaging	Het
Or7e177	A	T	9: 20,212,454 (GRCm39)	R320S	probably benign	Het
Osbpl1a	T	A	18: 13,004,220 (GRCm39)		probably null	Het
Pcdhb15	C	A	18: 37,608,329 (GRCm39)	D520E	probably damaging	Het
Pgm3	T	C	9: 86,449,586 (GRCm39)	T145A	probably benign	Het
Phox2b	G	A	5: 67,253,968 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,417,234 (GRCm39)	R59*	probably null	Het
Pold1	A	G	7: 44,190,449 (GRCm39)		probably benign	Het
Ppp1r21	T	C	17: 88,876,500 (GRCm39)		probably benign	Het
Prl5a1	A	G	13: 28,333,970 (GRCm39)	K158E	possibly damaging	Het
Rag2	T	G	2: 101,460,948 (GRCm39)	C419W	probably damaging	Het
Reln	A	G	5: 22,193,774 (GRCm39)	S1395P	probably damaging	Het
Retnlb	T	G	16: 48,639,022 (GRCm39)	Y74*	probably null	Het
Robo3	A	G	9: 37,333,936 (GRCm39)	S633P	probably damaging	Het
Ryr1	A	G	7: 28,740,104 (GRCm39)	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,511,698 (GRCm39)	N370S	probably damaging	Het
Slc6a5	C	A	7: 49,588,156 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,252,247 (GRCm39)	N481K	probably benign	Het
Sptlc3	T	A	2: 139,437,957 (GRCm39)	I417K	possibly damaging	Het
Svil	T	A	18: 5,099,063 (GRCm39)		probably benign	Het
Taf4b	T	C	18: 14,946,134 (GRCm39)		probably benign	Het
Tchp	T	C	5: 114,847,394 (GRCm39)	M71T	possibly damaging	Het
Thsd4	T	A	9: 59,904,417 (GRCm39)	H233L	probably benign	Het
Tmem217	G	T	17: 29,745,573 (GRCm39)	N52K	possibly damaging	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Uqcrfs1	A	C	13: 30,725,146 (GRCm39)	N131K	probably benign	Het
Vars1	T	A	17: 35,232,845 (GRCm39)	S896R	probably benign	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r22	T	C	6: 123,614,363 (GRCm39)	Y409C	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wdr49	A	T	3: 75,359,103 (GRCm39)	I8N	possibly damaging	Het
Zfp648	T	A	1: 154,080,632 (GRCm39)	Y264N	probably damaging	Het
Zmym1	A	C	4: 126,941,818 (GRCm39)	F857V	possibly damaging	Het

Other mutations in Pax7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Pax7	APN	4	139,555,901 (GRCm39)	missense	probably damaging	0.97
IGL03005:Pax7	APN	4	139,556,007 (GRCm39)	missense	probably damaging	1.00
IGL03143:Pax7	APN	4	139,556,798 (GRCm39)	splice site	probably benign
R1843:Pax7	UTSW	4	139,511,802 (GRCm39)	missense	probably damaging	1.00
R1891:Pax7	UTSW	4	139,511,937 (GRCm39)	missense	probably damaging	1.00
R2847:Pax7	UTSW	4	139,506,954 (GRCm39)	missense	possibly damaging	0.90
R2909:Pax7	UTSW	4	139,556,007 (GRCm39)	missense	possibly damaging	0.62
R3912:Pax7	UTSW	4	139,508,209 (GRCm39)	missense	probably benign	0.41
R4516:Pax7	UTSW	4	139,508,104 (GRCm39)	missense	probably benign	0.00
R5060:Pax7	UTSW	4	139,556,906 (GRCm39)	missense	probably damaging	1.00
R5060:Pax7	UTSW	4	139,506,928 (GRCm39)	missense	probably benign	0.00
R5089:Pax7	UTSW	4	139,557,576 (GRCm39)	missense	probably damaging	0.98
R5809:Pax7	UTSW	4	139,557,682 (GRCm39)	missense	probably damaging	1.00
R7367:Pax7	UTSW	4	139,507,060 (GRCm39)	missense	probably benign	0.04
R7485:Pax7	UTSW	4	139,511,880 (GRCm39)	missense	probably benign	0.36
R7823:Pax7	UTSW	4	139,468,150 (GRCm39)	missense	probably benign	0.20
R8333:Pax7	UTSW	4	139,557,514 (GRCm39)	missense	probably damaging	1.00
R8732:Pax7	UTSW	4	139,506,920 (GRCm39)	missense	probably benign	0.01
R9694:Pax7	UTSW	4	139,556,819 (GRCm39)	missense	probably benign	0.12
Z1177:Pax7	UTSW	4	139,511,826 (GRCm39)	missense	probably benign	0.19
Z1177:Pax7	UTSW	4	139,511,802 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGAATCTGGCAATGAGATCCCC -3'
(R):5'- GGATGATAGATGCCATCAGGCACAC -3'

Sequencing Primer
(F):5'- TCCCCCAAGTGGAGTAGAG -3'
(R):5'- TGCCTAGAGGTCACCTAGATG -3'

Posted On

2013-05-09