Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Pax7'

207412

Institutional Source

Beutler Lab

Gene Symbol

Pax7

Ensembl Gene

ENSMUSG00000028736

Gene Name

paired box 7

Synonyms

Pax-7

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139464373-139560839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139511802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 260 (R260C)

Ref Sequence

ENSEMBL: ENSMUSP00000133536 (fasta)

Gene Model

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

AlphaFold

P47239

Predicted Effect

probably damaging
Transcript: ENSMUST00000030508
AA Change: R258C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: R258C

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 damaging
Transcript: ENSMUST00000174681
AA Change: R260C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: R260C

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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 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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 106,435,606 (GRCm39)	T88M	probably damaging	Het
9430038I01Rik	A	G	7: 136,978,795 (GRCm39)		probably benign	Het
Adgra3	A	C	5: 50,118,834 (GRCm39)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,692,652 (GRCm39)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,176 (GRCm39)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,321,623 (GRCm39)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,348,751 (GRCm39)		probably null	Het
Apob	T	C	12: 8,057,602 (GRCm39)	F2028S	possibly damaging	Het
Arap3	G	A	18: 38,108,636 (GRCm39)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,651,121 (GRCm39)	Y135H	probably damaging	Het
Armh3	A	C	19: 45,963,691 (GRCm39)	S42R	probably benign	Het
Atp1a1	T	C	3: 101,489,333 (GRCm39)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,289,255 (GRCm39)	M497L	probably benign	Het
Ces5a	C	T	8: 94,240,859 (GRCm39)	V413M	probably damaging	Het
Chd5	A	T	4: 152,470,263 (GRCm39)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,737,422 (GRCm39)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,957,248 (GRCm39)	D303E	probably benign	Het
Chrnb4	A	T	9: 54,942,102 (GRCm39)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,840,802 (GRCm39)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,865,972 (GRCm39)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,240,940 (GRCm39)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,586,398 (GRCm39)	Q649R	probably benign	Het
Defb12	T	A	8: 19,162,754 (GRCm39)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,429,185 (GRCm39)	I85N	probably damaging	Het
Duox2	C	T	2: 122,122,739 (GRCm39)		probably null	Het
Ebi3	T	A	17: 56,263,679 (GRCm39)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,102,823 (GRCm39)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,268,777 (GRCm39)	M530I	probably damaging	Het
Evl	T	A	12: 108,619,255 (GRCm39)	D70E	probably damaging	Het
Fbln2	A	G	6: 91,242,757 (GRCm39)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,176,363 (GRCm39)	I170V	probably benign	Het
Gfm1	T	C	3: 67,342,943 (GRCm39)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,728,177 (GRCm39)	T18A	unknown	Het
Gm12887	A	T	4: 121,479,227 (GRCm39)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,435,243 (GRCm39)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,675,791 (GRCm39)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,272,878 (GRCm39)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,923,157 (GRCm39)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm39)	I889N	probably damaging	Het
Kcnq1	A	T	7: 142,736,857 (GRCm39)	M209L	probably benign	Het
Klra7	A	G	6: 130,206,957 (GRCm39)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,640,127 (GRCm39)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,063,034 (GRCm39)		probably null	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,602,247 (GRCm39)	D174G	probably damaging	Het
Megf9	G	T	4: 70,453,022 (GRCm39)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,760,412 (GRCm39)	T1155S	probably benign	Het
Nherf2	C	T	17: 24,860,693 (GRCm39)	S150N	possibly damaging	Het
Nlrp6	T	A	7: 140,503,006 (GRCm39)	C371S	probably damaging	Het
Nosip	T	A	7: 44,726,733 (GRCm39)		probably null	Het
Nox3	G	T	17: 3,720,153 (GRCm39)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,079,393 (GRCm39)	V959A	probably damaging	Het
Or10d1	A	G	9: 39,484,031 (GRCm39)	Y175H	possibly damaging	Het
Or2b2b	C	A	13: 21,858,842 (GRCm39)	V91L	probably benign	Het
Or2k2	T	C	4: 58,785,384 (GRCm39)	I113V	probably benign	Het
Or5b119	A	G	19: 13,457,295 (GRCm39)	I89T	probably benign	Het
Or5k8	T	A	16: 58,644,440 (GRCm39)	I211F	probably damaging	Het
Osbpl3	A	C	6: 50,347,123 (GRCm39)	S25A	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pbrm1	A	T	14: 30,760,914 (GRCm39)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,325,278 (GRCm39)		probably null	Het
Pcnx1	T	C	12: 82,027,709 (GRCm39)	L1585P	probably damaging	Het
Pde4c	C	T	8: 71,200,599 (GRCm39)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pgm1	A	T	4: 99,818,675 (GRCm39)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,271,235 (GRCm39)	H814R	probably benign	Het
Pknox2	A	T	9: 36,866,127 (GRCm39)	M5K	possibly damaging	Het
Pole	G	A	5: 110,478,701 (GRCm39)		probably null	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prelp	T	C	1: 133,842,495 (GRCm39)	K217E	probably damaging	Het
Prkce	C	T	17: 86,782,974 (GRCm39)	Q202*	probably null	Het
Psmd2	T	G	16: 20,475,332 (GRCm39)	M370R	probably benign	Het
Rimklb	A	T	6: 122,440,968 (GRCm39)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,630,420 (GRCm39)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,426,321 (GRCm39)	M1L	probably benign	Het
Scrn1	A	G	6: 54,499,826 (GRCm39)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,778,244 (GRCm39)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,861,282 (GRCm39)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,855,364 (GRCm39)	P346L	probably benign	Het
Shld2	A	G	14: 33,989,760 (GRCm39)	I382T	probably benign	Het
Spg21	G	T	9: 65,372,618 (GRCm39)	V17F	probably damaging	Het
Spink5	A	T	18: 44,132,958 (GRCm39)	M525L	probably benign	Het
Sun2	T	C	15: 79,621,764 (GRCm39)	T155A	probably benign	Het
Tchh	T	A	3: 93,354,087 (GRCm39)	F1176I	unknown	Het
Tex15	T	A	8: 34,066,682 (GRCm39)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,199,857 (GRCm39)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,097,143 (GRCm39)	N139S	probably benign	Het
Tns2	C	T	15: 102,021,568 (GRCm39)		probably null	Het
Trim66	T	C	7: 109,075,046 (GRCm39)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,187,415 (GRCm39)	F456I	probably benign	Het
Tspo2	T	C	17: 48,755,818 (GRCm39)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,032,850 (GRCm39)	C304*	probably null	Het
Vgll4	A	T	6: 114,839,756 (GRCm39)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,464,732 (GRCm39)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,818,183 (GRCm39)	S587A	probably benign	Het
Vps4b	C	A	1: 106,706,712 (GRCm39)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,048,314 (GRCm39)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm39)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp764l1	A	C	7: 126,990,660 (GRCm39)	D442E	probably benign	Het
Zswim5	G	T	4: 116,734,896 (GRCm39)	E80D	unknown	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
R0266:Pax7	UTSW	4	139,507,047 (GRCm39)	missense	possibly damaging	0.79
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'- TGGAGAGTTTGTGCCTTCCC -3'
(R):5'- TGTGGAATCAGAACCCGAC -3'

Sequencing Primer
(F):5'- TCTGTCAATCTGTAAGTCAATCAACC -3'
(R):5'- CCTCCCCCTGAAGCGCAAG -3'

Posted On

2014-06-23