Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Pax7'

501570

Institutional Source

Beutler Lab

Gene Symbol

Pax7

Ensembl Gene

ENSMUSG00000028736

Gene Name

paired box 7

Synonyms

Pax-7

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139464373-139560839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139557682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 30 (S30P)

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: S30P

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

SMART Domains

Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: S30P

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: S30P

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

SMART Domains

Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: S30P

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

0.2322

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,556 (GRCm39)	S4G	unknown	Het
AA623943	T	C	11: 94,703,828 (GRCm39)		noncoding transcript	Het
Abca13	T	A	11: 9,243,692 (GRCm39)	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,738,540 (GRCm39)	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,820,257 (GRCm39)	V411A	probably benign	Het
Akp3	G	A	1: 87,054,270 (GRCm39)	R269H	probably benign	Het
Alox15	C	A	11: 70,241,708 (GRCm39)	G58W	probably damaging	Het
Ankle2	A	G	5: 110,385,856 (GRCm39)	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,465,311 (GRCm39)	I289L	probably benign	Het
Atp13a4	T	A	16: 29,252,805 (GRCm39)	T714S	possibly damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Blm	A	T	7: 80,114,592 (GRCm39)	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,723,521 (GRCm39)	V770I	probably benign	Het
Ccdc148	T	A	2: 58,713,657 (GRCm39)	H498L	probably damaging	Het
Cdh26	T	A	2: 178,101,919 (GRCm39)	Y179*	probably null	Het
Cela2a	T	A	4: 141,552,864 (GRCm39)	T38S	probably benign	Het
Cep350	A	T	1: 155,809,087 (GRCm39)	N496K	probably damaging	Het
Cep89	A	G	7: 35,117,151 (GRCm39)	Y251C	probably damaging	Het
Cluh	T	C	11: 74,552,526 (GRCm39)	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,822,801 (GRCm39)	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,523 (GRCm39)	S705P	probably damaging	Het
Dock2	T	G	11: 34,212,445 (GRCm39)	D1232A	probably benign	Het
Donson	T	C	16: 91,484,738 (GRCm39)	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,324,381 (GRCm39)	L50P	probably benign	Het
Gm10300	C	T	4: 131,802,458 (GRCm39)		probably benign	Het
Gm8369	A	G	19: 11,482,248 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,924 (GRCm39)		noncoding transcript	Het
Hepacam	T	A	9: 37,296,101 (GRCm39)	S417R	possibly damaging	Het
Hibch	T	A	1: 52,892,859 (GRCm39)	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,525,358 (GRCm39)	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,881,575 (GRCm39)		probably benign	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Il12a	A	T	3: 68,602,595 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,477,847 (GRCm39)	V34A	probably benign	Het
Intu	A	C	3: 40,634,020 (GRCm39)	M418L	probably damaging	Het
Khdc4	A	G	3: 88,616,192 (GRCm39)	R460G	probably damaging	Het
Klra9	A	G	6: 130,156,036 (GRCm39)	S240P	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndrg1	A	G	15: 66,802,699 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,905 (GRCm39)	*310Q	probably null	Het
Or5k17	T	C	16: 58,746,860 (GRCm39)	T25A	probably benign	Het
Pate6	C	T	9: 35,700,297 (GRCm39)	C96Y	probably damaging	Het
Pdcd11	A	T	19: 47,082,247 (GRCm39)	T54S	probably benign	Het
Pex19	T	C	1: 171,958,306 (GRCm39)	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,103 (GRCm39)	I1121V	probably benign	Het
Pklr	A	T	3: 89,049,091 (GRCm39)	I146F	probably benign	Het
Plcb1	T	C	2: 135,104,164 (GRCm39)	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,735,160 (GRCm39)	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,125,461 (GRCm39)	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,051,774 (GRCm39)	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,158,745 (GRCm39)	I72V	probably damaging	Het
Ptpru	C	T	4: 131,513,067 (GRCm39)	R880Q	probably benign	Het
Rrp36	T	C	17: 46,978,932 (GRCm39)	K209E	probably damaging	Het
Scarb1	A	G	5: 125,381,286 (GRCm39)	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,446,860 (GRCm39)	S37R	probably benign	Het
Slc13a2	A	T	11: 78,288,647 (GRCm39)	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,630,296 (GRCm39)	T117A	probably benign	Het
Smok2a	A	G	17: 13,445,865 (GRCm39)	R481G	possibly damaging	Het
Smr2	G	A	5: 88,256,699 (GRCm39)	A126T	probably benign	Het
Sspo	G	T	6: 48,436,979 (GRCm39)	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524 (GRCm39)	S909P	possibly damaging	Het
Tchh	A	T	3: 93,352,880 (GRCm39)	K773N	unknown	Het
Tmem156	T	C	5: 65,232,950 (GRCm39)	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,092,589 (GRCm39)	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,153,372 (GRCm39)	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,951,139 (GRCm39)	A1436T	probably benign	Het
Ubr3	A	G	2: 69,795,855 (GRCm39)	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,765,303 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,103,931 (GRCm39)	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,345,035 (GRCm39)	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481 (GRCm39)	V119M	probably damaging	Het
Zmat5	A	G	11: 4,672,431 (GRCm39)	D16G	probably 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
R0266:Pax7	UTSW	4	139,507,047 (GRCm39)	missense	possibly damaging	0.79
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
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'- TCTCCTGATATCGGCACAGAATC -3'
(R):5'- AGGTGTATCCTCATTTCCTGCAG -3'

Sequencing Primer
(F):5'- TCTTGGAGACACAACCATGG -3'
(R):5'- TAGACCTTGGAGATCAGC -3'

Posted On

2017-12-01