Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Pax7'

211470

Institutional Source

Beutler Lab

Gene Symbol

Pax7

Ensembl Gene

ENSMUSG00000028736

Gene Name

paired box 7

Synonyms

Pax-7

MMRRC Submission

039911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1891 (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 139511937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 215 (R215C)

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: R213C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: R213C

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: R215C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: R215C

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: 95.4%
20x: 92.7%

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 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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,840,874 (GRCm39)	I921T	possibly damaging	Het
Abca8a	T	C	11: 109,982,433 (GRCm39)	K3R	probably benign	Het
Adgrl3	A	T	5: 81,659,891 (GRCm39)	D152V	probably damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,626,009 (GRCm39)	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,479,342 (GRCm39)		probably benign	Het
Arid4b	T	A	13: 14,310,821 (GRCm39)	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,753,480 (GRCm39)	D219Y	probably damaging	Het
Ccdc113	A	G	8: 96,267,544 (GRCm39)	K170E	probably damaging	Het
Ceacam9	A	G	7: 16,457,880 (GRCm39)	E136G	probably damaging	Het
Cfap43	A	G	19: 47,802,380 (GRCm39)	L333P	probably damaging	Het
Chl1	A	G	6: 103,691,544 (GRCm39)	D1062G	possibly damaging	Het
Cimip4	T	A	15: 78,262,952 (GRCm39)	D234V	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clpp	T	A	17: 57,298,307 (GRCm39)	V91E	probably damaging	Het
Cndp1	A	T	18: 84,637,758 (GRCm39)	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446 (GRCm39)	N169S	probably benign	Het
Cog6	A	C	3: 52,890,601 (GRCm39)	I613R	probably benign	Het
Creb3l1	A	G	2: 91,817,385 (GRCm39)	L376P	probably damaging	Het
Cry2	A	T	2: 92,243,985 (GRCm39)	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,992,318 (GRCm39)	M240V	possibly damaging	Het
Defa28	G	A	8: 22,073,801 (GRCm39)	C68Y	probably damaging	Het
Ecd	A	G	14: 20,388,227 (GRCm39)	I187T	probably damaging	Het
Erg28	A	G	12: 85,862,962 (GRCm39)	S117P	probably benign	Het
Ergic2	A	T	6: 148,084,577 (GRCm39)	C319S	probably damaging	Het
Ess2	C	T	16: 17,725,644 (GRCm39)	W183*	probably null	Het
Evc2	A	C	5: 37,549,423 (GRCm39)	D773A	probably damaging	Het
Fam151b	T	A	13: 92,586,678 (GRCm39)	T252S	probably benign	Het
Fbxo28	A	T	1: 182,145,389 (GRCm39)	M233K	probably benign	Het
Fbxw26	T	G	9: 109,551,232 (GRCm39)	D355A	probably benign	Het
Gm4884	G	C	7: 40,692,539 (GRCm39)	E169D	possibly damaging	Het
Hk2	C	T	6: 82,726,264 (GRCm39)	R94Q	probably benign	Het
Hps4	G	A	5: 112,517,422 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,292,801 (GRCm39)	D4126E	probably damaging	Het
Kif13a	T	C	13: 47,082,695 (GRCm39)	E48G	possibly damaging	Het
Krt31	T	A	11: 99,938,634 (GRCm39)	N320Y	probably damaging	Het
Lca5	T	C	9: 83,277,661 (GRCm39)	Y561C	probably damaging	Het
Lrrk1	G	A	7: 65,929,048 (GRCm39)	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,293,269 (GRCm39)	Y25*	probably null	Het
Map3k13	T	G	16: 21,729,836 (GRCm39)	M489R	probably damaging	Het
Mcm6	C	T	1: 128,263,547 (GRCm39)	R658H	probably damaging	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mitf	A	G	6: 97,918,237 (GRCm39)	T94A	probably benign	Het
Mpo	T	A	11: 87,692,106 (GRCm39)	L513*	probably null	Het
Mst1r	T	A	9: 107,790,661 (GRCm39)	N722K	probably damaging	Het
Mthfd1l	T	A	10: 3,982,284 (GRCm39)	L497*	probably null	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Naip2	C	T	13: 100,291,395 (GRCm39)	R1181K	probably benign	Het
Nbas	T	C	12: 13,440,973 (GRCm39)	M1101T	possibly damaging	Het
Odad3	G	T	9: 21,906,677 (GRCm39)		probably null	Het
Or2y1b	T	C	11: 49,208,684 (GRCm39)	F104L	probably benign	Het
Or4f60	A	T	2: 111,902,739 (GRCm39)	L63Q	probably damaging	Het
Or52l1	A	T	7: 104,829,754 (GRCm39)	Y270*	probably null	Het
Or5ae1	T	A	7: 84,565,461 (GRCm39)	V158D	possibly damaging	Het
Or6c33	T	C	10: 129,853,439 (GRCm39)	S70P	probably damaging	Het
Or7a40	T	A	16: 16,491,441 (GRCm39)	I135F	probably damaging	Het
Or7g20	T	C	9: 18,947,274 (GRCm39)	L285S	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,010,938 (GRCm39)	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859 (GRCm39)	V129E	probably damaging	Het
Pcdh7	A	T	5: 57,878,217 (GRCm39)	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,652,357 (GRCm39)	V275A	probably damaging	Het
Pkp3	C	T	7: 140,663,969 (GRCm39)		probably null	Het
Plekhb1	A	G	7: 100,304,599 (GRCm39)	L35P	probably damaging	Het
Pole	T	A	5: 110,480,408 (GRCm39)	F1993Y	probably damaging	Het
Pramel28	A	T	4: 143,693,235 (GRCm39)	V81E	probably damaging	Het
Prdx1	T	C	4: 116,556,451 (GRCm39)	*200R	probably null	Het
Prkdc	C	A	16: 15,543,300 (GRCm39)	T1777N	probably benign	Het
Prss59	A	T	6: 40,902,967 (GRCm39)	M135K	possibly damaging	Het
Ptpn14	G	A	1: 189,530,850 (GRCm39)	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,222,868 (GRCm39)	E63G	possibly damaging	Het
Qser1	A	C	2: 104,620,444 (GRCm39)	S123A	probably benign	Het
Rbm11	A	G	16: 75,397,675 (GRCm39)	N202D	possibly damaging	Het
Robo3	T	A	9: 37,339,351 (GRCm39)	Y212F	probably damaging	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Serpinb1c	T	A	13: 33,068,235 (GRCm39)	D179V	probably benign	Het
Skint6	T	C	4: 112,703,893 (GRCm39)	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,381,904 (GRCm39)	S46P	probably damaging	Het
St8sia4	T	C	1: 95,519,433 (GRCm39)	T352A	possibly damaging	Het
Stab1	C	A	14: 30,863,287 (GRCm39)	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,509,060 (GRCm39)	C730R	probably benign	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tle4	A	T	19: 14,522,150 (GRCm39)		probably null	Het
Tmem200a	T	A	10: 25,869,970 (GRCm39)	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,768,597 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Urgcp	T	C	11: 5,666,910 (GRCm39)	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,659,425 (GRCm39)	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,221,938 (GRCm39)	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,454 (GRCm39)	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,206,200 (GRCm39)	E1865*	probably null	Het
Zc3h3	A	C	15: 75,628,780 (GRCm39)	M838R	possibly damaging	Het
Zfp959	T	A	17: 56,204,604 (GRCm39)	C211S	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
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'- AATATGTGCTGCCCCTTCAG -3'
(R):5'- GCTAAGCTATGGTGTGGTAAGC -3'

Sequencing Primer
(F):5'- AGTGAGCACTCGACTCAGGAC -3'
(R):5'- CCGTATTCTTTCTTGGGGAGACAC -3'

Posted On

2014-06-30