Mutagenetix > Incidental Mutation

Incidental Mutation 'R7485:Pax7'

580050

Institutional Source

Beutler Lab

Gene Symbol

Pax7

Ensembl Gene

ENSMUSG00000028736

Gene Name

paired box 7

Synonyms

Pax-7

MMRRC Submission

045559-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139464373-139560839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139511880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 232 (K232E)

Ref Sequence

ENSEMBL: ENSMUSP00000030508 (fasta)

Gene Model

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

AlphaFold

P47239

Predicted Effect

probably benign
Transcript: ENSMUST00000030508
AA Change: K232E

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: K232E

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: K234E

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: K234E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (99/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	C	T	10: 80,442,234 (GRCm39)	A24V	probably benign	Het
Agbl1	A	T	7: 76,239,241 (GRCm39)	E832D	unknown	Het
Akap8l	G	A	17: 32,554,545 (GRCm39)	S347L	probably benign	Het
Ankmy1	G	T	1: 92,804,379 (GRCm39)	A868E	probably damaging	Het
Ankrd49	A	T	9: 14,693,837 (GRCm39)	L110*	probably null	Het
Aoc3	A	G	11: 101,228,229 (GRCm39)	T679A	probably damaging	Het
Ap1s3	A	G	1: 79,592,018 (GRCm39)	Y111H	probably damaging	Het
Arnt	T	A	3: 95,402,659 (GRCm39)	N777K	probably damaging	Het
Atp4b	A	T	8: 13,436,732 (GRCm39)	M260K	probably benign	Het
Bcl2l15	A	T	3: 103,740,729 (GRCm39)	D65V	probably damaging	Het
Bicdl1	G	T	5: 115,801,845 (GRCm39)	S340*	probably null	Het
Ccdc15	T	C	9: 37,226,574 (GRCm39)	R467G	probably benign	Het
Ccdc68	T	A	18: 70,102,084 (GRCm39)	M327K	possibly damaging	Het
Ccdc83	T	C	7: 89,873,138 (GRCm39)	T406A	probably benign	Het
Ccnf	A	T	17: 24,468,232 (GRCm39)	V55D	probably damaging	Het
Cdcp3	C	A	7: 130,830,562 (GRCm39)	P332Q	probably damaging	Het
Cldn12	A	G	5: 5,558,008 (GRCm39)	F140L	probably benign	Het
Copb1	A	C	7: 113,844,720 (GRCm39)	I213S	possibly damaging	Het
Cps1	G	A	1: 67,179,016 (GRCm39)	G76D	probably damaging	Het
Ctrc	A	G	4: 141,567,627 (GRCm39)	W159R	probably damaging	Het
Cul4a	C	T	8: 13,190,279 (GRCm39)	T572M	possibly damaging	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Dcc	A	G	18: 71,553,317 (GRCm39)	Y780H	probably benign	Het
Dctn1	C	T	6: 83,166,887 (GRCm39)	A283V	possibly damaging	Het
Dio1	T	C	4: 107,154,874 (GRCm39)	D134G	probably benign	Het
Dlg5	A	T	14: 24,198,390 (GRCm39)	D1514E	probably benign	Het
Dlg5	A	T	14: 24,227,907 (GRCm39)	L338Q	probably damaging	Het
Dlgap2	A	T	8: 14,879,952 (GRCm39)	K767N	probably damaging	Het
Dst	A	T	1: 34,313,270 (GRCm39)	I4346F	probably benign	Het
Dzip1l	T	C	9: 99,543,065 (GRCm39)	F507L	probably benign	Het
Erich2	A	T	2: 70,362,109 (GRCm39)	D300V	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam131a	C	T	16: 20,520,444 (GRCm39)	A299V	probably benign	Het
Fbln2	A	G	6: 91,247,143 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,204,912 (GRCm39)	D1177G	possibly damaging	Het
Fbxl6	T	C	15: 76,422,113 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,339,965 (GRCm39)	I753F	probably damaging	Het
Gfra1	A	G	19: 58,288,744 (GRCm39)	S234P	probably damaging	Het
Gtse1	T	A	15: 85,752,901 (GRCm39)	S339T	probably benign	Het
Hdgfl3	T	C	7: 81,550,106 (GRCm39)	N76S	probably benign	Het
Herc6	A	G	6: 57,558,089 (GRCm39)	E23G	probably benign	Het
Hid1	T	A	11: 115,245,545 (GRCm39)	H420L	probably damaging	Het
Igsf21	G	A	4: 139,755,049 (GRCm39)	T440I	probably benign	Het
Ikzf4	T	A	10: 128,468,451 (GRCm39)	H676L	unknown	Het
Il18r1	A	G	1: 40,520,140 (GRCm39)	E177G	probably benign	Het
Iqch	A	G	9: 63,415,599 (GRCm39)	Y558H	possibly damaging	Het
Kif11	A	T	19: 37,399,072 (GRCm39)	N752I	possibly damaging	Het
Kntc1	T	A	5: 123,925,019 (GRCm39)	C1111S	possibly damaging	Het
Krtap9-5	A	G	11: 99,839,800 (GRCm39)	K167R	unknown	Het
Lgalsl2	C	T	7: 5,362,440 (GRCm39)	R24C	probably benign	Het
Lipe	G	T	7: 25,080,036 (GRCm39)	T704K	probably benign	Het
Lrrc32	A	T	7: 98,147,414 (GRCm39)	I65F	possibly damaging	Het
Mogs	C	T	6: 83,093,188 (GRCm39)	H179Y	probably damaging	Het
Mtnr1b	A	T	9: 15,774,590 (GRCm39)	Y156*	probably null	Het
Mtus1	T	C	8: 41,537,590 (GRCm39)	H42R	probably benign	Het
Mx2	T	A	16: 97,346,918 (GRCm39)	D128E	probably benign	Het
Myof	A	T	19: 37,939,939 (GRCm39)	L829*	probably null	Het
Naip6	T	C	13: 100,420,359 (GRCm39)	K1304E	probably benign	Het
Neo1	A	C	9: 58,791,826 (GRCm39)	S1307R	probably benign	Het
Nipbl	A	T	15: 8,359,779 (GRCm39)	D1475E	probably benign	Het
Nlrp9b	T	A	7: 19,757,875 (GRCm39)	F371I	probably damaging	Het
Nrip1	A	T	16: 76,088,338 (GRCm39)	M1073K	probably damaging	Het
Obox6	T	C	7: 15,567,863 (GRCm39)	N195D	probably damaging	Het
Or13a18	T	A	7: 140,190,091 (GRCm39)	I4K	probably benign	Het
Or1j18	T	A	2: 36,624,650 (GRCm39)	F106I	probably benign	Het
Or5ac24	A	T	16: 59,165,687 (GRCm39)	C126S	probably damaging	Het
Or5b99	C	T	19: 12,976,922 (GRCm39)	H191Y	probably benign	Het
Or5p64	C	A	7: 107,855,045 (GRCm39)	C100F	probably damaging	Het
Phldb3	C	T	7: 24,310,689 (GRCm39)		probably benign	Het
Pkd1l1	C	A	11: 8,915,148 (GRCm39)	V131L		Het
Ppp2r5a	A	G	1: 191,128,532 (GRCm39)	S28P	probably benign	Het
Prl8a1	A	G	13: 27,758,068 (GRCm39)	S214P	probably damaging	Het
Prmt2	A	T	10: 76,056,838 (GRCm39)	C228*	probably null	Het
Prpf8	C	T	11: 75,399,738 (GRCm39)	R2266*	probably null	Het
Rabl6	A	G	2: 25,474,153 (GRCm39)	S648P	unknown	Het
Ralgapa1	T	C	12: 55,759,457 (GRCm39)	K1022R	probably damaging	Het
Ralgapb	T	A	2: 158,285,275 (GRCm39)	D591E	probably benign	Het
Rprd1a	A	G	18: 24,639,889 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,221,686 (GRCm39)	R165G	probably damaging	Het
Samd8	A	G	14: 21,842,491 (GRCm39)	E334G	probably benign	Het
Scn9a	T	A	2: 66,364,561 (GRCm39)	Q804L	probably damaging	Het
Sez6	A	G	11: 77,864,711 (GRCm39)	D557G	probably benign	Het
Sgsm1	A	T	5: 113,427,501 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,039,832 (GRCm39)	M290K		Het
Snd1	T	A	6: 28,531,449 (GRCm39)	V330E	probably benign	Het
Tceanc2	T	C	4: 107,022,852 (GRCm39)	K45R	probably damaging	Het
Tg	A	T	15: 66,568,437 (GRCm39)	I1375F	probably benign	Het
Tmem116	T	A	5: 121,633,124 (GRCm39)	I357K		Het
Tmem39a	G	T	16: 38,408,658 (GRCm39)	R407L	possibly damaging	Het
Tmem74	A	T	15: 43,730,761 (GRCm39)	M94K	probably benign	Het
Tpp1	C	T	7: 105,398,751 (GRCm39)	C226Y	probably damaging	Het
Trbv21	T	C	6: 41,179,861 (GRCm39)	I59T	not run	Het
Trim11	A	G	11: 58,869,463 (GRCm39)	D133G	probably benign	Het
Uaca	G	A	9: 60,753,282 (GRCm39)	V76I	probably damaging	Het
Ugt2a3	A	G	5: 87,475,539 (GRCm39)		probably null	Het
Vmn2r104	G	T	17: 20,249,737 (GRCm39)	H845N	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb46	A	G	2: 181,065,512 (GRCm39)	S213P	probably benign	Het
Zdhhc13	C	A	7: 48,461,103 (GRCm39)	Y346*	probably null	Het
Zfp280b	A	T	10: 75,875,075 (GRCm39)	H318L	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
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
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'- CAATATGTGCTGCCCCTTCAG -3'
(R):5'- TTGTAGTGTTCAGAGGACACAGG -3'

Sequencing Primer
(F):5'- TGCATGGTCCCAGGATCACAC -3'
(R):5'- ACAGGTGTGACCCTCTGC -3'

Posted On

2019-10-07