Mutagenetix > Incidental Mutation

Incidental Mutation 'R7895:Paxbp1'

609638

Institutional Source

Beutler Lab

Gene Symbol

Paxbp1

Ensembl Gene

ENSMUSG00000022974

Gene Name

PAX3 and PAX7 binding protein 1

Synonyms

1810007M14Rik, Pax3/7bp, Gcfc1

MMRRC Submission

045947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90810925-90841267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90822166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 648 (D648V)

Ref Sequence

ENSEMBL: ENSMUSP00000113835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118522] [ENSMUST00000145136]

AlphaFold

P58501

Predicted Effect

probably benign
Transcript: ENSMUST00000023698

SMART Domains

Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974

Domain	Start	End	E-Value	Type
low complexity region	5	27	N/A	INTRINSIC
low complexity region	51	57	N/A	INTRINSIC
low complexity region	60	86	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	434	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118522
AA Change: D648V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: D648V

Domain	Start	End	E-Value	Type
coiled coil region	3	28	N/A	INTRINSIC
low complexity region	114	120	N/A	INTRINSIC
low complexity region	123	149	N/A	INTRINSIC
low complexity region	186	199	N/A	INTRINSIC
low complexity region	258	271	N/A	INTRINSIC
low complexity region	525	546	N/A	INTRINSIC
Pfam:GCFC	597	812	5.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145136

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,106,295 (GRCm39)	S143T	probably benign	Het
9030624G23Rik	A	T	12: 24,094,724 (GRCm39)	M149K	unknown	Het
Aadacl4fm4	A	T	4: 144,396,913 (GRCm39)	I273K	possibly damaging	Het
Agpat3	T	A	10: 78,119,034 (GRCm39)	I187F	probably benign	Het
Ahcyl1	C	T	3: 107,576,467 (GRCm39)	A332T	probably damaging	Het
Aldh3b3	A	G	19: 4,014,871 (GRCm39)	I123V	possibly damaging	Het
Ap5z1	T	A	5: 142,456,313 (GRCm39)		probably null	Het
Apob	A	T	12: 8,061,933 (GRCm39)	I3472F	probably benign	Het
Arhgef33	C	T	17: 80,680,914 (GRCm39)	P685S	probably benign	Het
Arhgef4	T	C	1: 34,845,478 (GRCm39)	I130T	probably damaging	Het
Arnt2	A	T	7: 83,954,406 (GRCm39)	F263I	probably benign	Het
Bbof1	A	G	12: 84,466,763 (GRCm39)	R177G	probably damaging	Het
Bbs2	C	A	8: 94,807,764 (GRCm39)	G372W	probably damaging	Het
Blmh	T	A	11: 76,836,721 (GRCm39)		probably null	Het
Ccdc30	A	T	4: 119,209,910 (GRCm39)		probably null	Het
Cdca7l	G	T	12: 117,837,467 (GRCm39)	L219F	probably damaging	Het
Cenpu	C	A	8: 47,015,499 (GRCm39)	A138E	probably benign	Het
Cfap65	T	A	1: 74,972,321 (GRCm39)	T13S	probably benign	Het
Clasp2	A	G	9: 113,733,016 (GRCm39)	M951V	probably benign	Het
Clca4a	A	G	3: 144,674,166 (GRCm39)	S190P	probably benign	Het
Clcn4	A	G	7: 7,298,167 (GRCm39)	V74A	probably benign	Het
Cntln	C	T	4: 84,981,561 (GRCm39)	T913M	possibly damaging	Het
Cntnap4	T	A	8: 113,478,829 (GRCm39)	V185E	probably damaging	Het
Col26a1	C	T	5: 136,777,031 (GRCm39)		probably null	Het
Ctcf	A	T	8: 106,390,690 (GRCm39)	Q99L	possibly damaging	Het
Dgke	T	C	11: 88,931,682 (GRCm39)	Q524R	probably damaging	Het
Dhrs7	A	T	12: 72,699,234 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,289,110 (GRCm39)	Y2969H	probably damaging	Het
Dync1h1	T	G	12: 110,582,891 (GRCm39)	I358S	probably damaging	Het
Efcab3	A	C	11: 105,008,150 (GRCm39)	D410A	probably benign	Het
Emilin2	T	C	17: 71,580,908 (GRCm39)	D606G	probably benign	Het
Ermard	C	T	17: 15,283,875 (GRCm39)	T622I	possibly damaging	Het
Exo1	A	G	1: 175,728,562 (GRCm39)	D542G	probably benign	Het
Fgd5	A	T	6: 91,964,262 (GRCm39)	D165V	probably benign	Het
Gdap1	T	C	1: 17,231,368 (GRCm39)	W238R	probably damaging	Het
Gm11096	T	G	17: 81,749,328 (GRCm39)	I7M	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,927,770 (GRCm39)	M175L	probably benign	Het
Gorasp2	G	A	2: 70,514,442 (GRCm39)	S273N	probably benign	Het
Gtf3c1	T	C	7: 125,271,994 (GRCm39)	M642V	possibly damaging	Het
Hmx2	T	A	7: 131,157,600 (GRCm39)	L238Q	probably damaging	Het
Kif13b	A	G	14: 64,973,598 (GRCm39)	D316G	probably damaging	Het
Kmt2c	A	G	5: 25,578,174 (GRCm39)	S701P	possibly damaging	Het
Lama4	T	A	10: 38,964,325 (GRCm39)	N1332K	probably damaging	Het
Lrp2	T	C	2: 69,288,823 (GRCm39)	D3681G	probably damaging	Het
Maml3	G	T	3: 51,605,143 (GRCm39)	P722Q	probably damaging	Het
Mier2	C	A	10: 79,377,719 (GRCm39)		probably benign	Het
Ms4a15	A	T	19: 10,956,694 (GRCm39)		probably null	Het
Msh5	T	C	17: 35,263,355 (GRCm39)	M158V	probably benign	Het
Nova2	A	T	7: 18,676,270 (GRCm39)	K136I		Het
Npm1	A	T	11: 33,106,001 (GRCm39)		probably null	Het
Nr4a3	T	A	4: 48,051,390 (GRCm39)	M48K	probably benign	Het
Nrap	T	G	19: 56,342,584 (GRCm39)	T806P	probably benign	Het
Ntf3	G	A	6: 126,079,203 (GRCm39)	T101M	probably benign	Het
Or2aj4	G	A	16: 19,385,472 (GRCm39)	R54*	probably null	Het
Pcdhb18	T	A	18: 37,623,520 (GRCm39)	D283E	probably benign	Het
Phrf1	C	A	7: 140,839,288 (GRCm39)	Q828K	unknown	Het
Pigq	A	T	17: 26,156,299 (GRCm39)	I43N	probably benign	Het
Pou6f2	G	T	13: 18,300,033 (GRCm39)	T542K		Het
Ppfibp2	T	A	7: 107,320,524 (GRCm39)		probably null	Het
Rab1b	A	T	19: 5,150,524 (GRCm39)	M163K	probably benign	Het
Ralgapa1	A	G	12: 55,793,934 (GRCm39)	M567T	probably benign	Het
Reck	T	C	4: 43,890,970 (GRCm39)	V36A	probably benign	Het
Resp18	C	T	1: 75,254,846 (GRCm39)	D36N	probably null	Het
Rint1	A	C	5: 24,005,720 (GRCm39)	H134P	probably damaging	Het
Rps19	A	T	7: 24,587,764 (GRCm39)	K77M	possibly damaging	Het
Sec24b	A	T	3: 129,789,598 (GRCm39)	S808T	probably benign	Het
Sema4c	A	C	1: 36,592,199 (GRCm39)	V216G	probably damaging	Het
Septin10	T	A	10: 59,016,871 (GRCm39)	T218S	probably benign	Het
Septin3	A	T	15: 82,170,020 (GRCm39)	H182L	probably benign	Het
Sipa1	A	G	19: 5,702,690 (GRCm39)	S836P	probably benign	Het
Slc9a5	A	G	8: 106,089,998 (GRCm39)	K652R	probably damaging	Het
Slco5a1	T	A	1: 13,059,927 (GRCm39)	I265F	possibly damaging	Het
Snapc5	T	A	9: 64,086,614 (GRCm39)	M1K	probably null	Het
Snx5	T	A	2: 144,095,740 (GRCm39)	D307V	possibly damaging	Het
Srebf2	A	T	15: 82,061,441 (GRCm39)	M381L	probably benign	Het
Ssh2	G	C	11: 77,345,452 (GRCm39)	E1146Q	probably benign	Het
Suco	A	T	1: 161,672,937 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,812,651 (GRCm39)	L1365Q	probably damaging	Het
Tas1r3	A	G	4: 155,947,005 (GRCm39)	L200P	probably damaging	Het
Thbs2	T	G	17: 14,896,483 (GRCm39)	D802A	probably damaging	Het
Trav3-1	G	A	14: 52,818,550 (GRCm39)	V75M	probably benign	Het
Trim9	G	A	12: 70,301,961 (GRCm39)	P559L	probably benign	Het
Trpc6	G	A	9: 8,655,219 (GRCm39)	G683D	probably damaging	Het
Unc5b	C	A	10: 60,615,509 (GRCm39)	V164L	possibly damaging	Het
Usf3	A	T	16: 44,036,565 (GRCm39)	R348S	possibly damaging	Het
Vmn1r236	T	C	17: 21,507,728 (GRCm39)	V282A	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,130 (GRCm39)	E262G	possibly damaging	Het
Xirp2	A	G	2: 67,339,841 (GRCm39)	E694G	probably damaging	Het
Xpo4	T	A	14: 57,840,048 (GRCm39)	H572L	probably benign	Het
Zfhx4	A	G	3: 5,307,259 (GRCm39)	T162A	probably benign	Het
Zfp110	T	A	7: 12,571,020 (GRCm39)	H59Q	possibly damaging	Het

Other mutations in Paxbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Paxbp1	APN	16	90,832,804 (GRCm39)	splice site	probably benign
IGL01705:Paxbp1	APN	16	90,813,876 (GRCm39)	missense	probably benign	0.01
IGL02418:Paxbp1	APN	16	90,831,000 (GRCm39)	missense	probably damaging	1.00
IGL02527:Paxbp1	APN	16	90,834,161 (GRCm39)	missense	possibly damaging	0.57
IGL02661:Paxbp1	APN	16	90,827,413 (GRCm39)	missense	probably benign	0.43
IGL02796:Paxbp1	APN	16	90,822,182 (GRCm39)	unclassified	probably benign
IGL03336:Paxbp1	APN	16	90,831,060 (GRCm39)	missense	probably benign
R0016:Paxbp1	UTSW	16	90,832,924 (GRCm39)	splice site	probably benign
R0306:Paxbp1	UTSW	16	90,819,003 (GRCm39)	missense	possibly damaging	0.54
R0331:Paxbp1	UTSW	16	90,834,255 (GRCm39)	missense	possibly damaging	0.95
R0724:Paxbp1	UTSW	16	90,833,424 (GRCm39)	missense	probably damaging	1.00
R0944:Paxbp1	UTSW	16	90,820,315 (GRCm39)	missense	probably benign	0.25
R1348:Paxbp1	UTSW	16	90,831,904 (GRCm39)	missense	probably damaging	0.97
R1909:Paxbp1	UTSW	16	90,841,193 (GRCm39)	unclassified	probably benign
R2234:Paxbp1	UTSW	16	90,831,822 (GRCm39)	missense	probably benign	0.05
R3156:Paxbp1	UTSW	16	90,832,878 (GRCm39)	missense	probably benign	0.00
R3819:Paxbp1	UTSW	16	90,819,640 (GRCm39)	unclassified	probably benign
R3910:Paxbp1	UTSW	16	90,839,569 (GRCm39)	missense	probably damaging	1.00
R3949:Paxbp1	UTSW	16	90,840,905 (GRCm39)	missense	probably damaging	1.00
R4109:Paxbp1	UTSW	16	90,813,786 (GRCm39)	missense	probably benign	0.10
R4577:Paxbp1	UTSW	16	90,812,042 (GRCm39)	missense	probably damaging	1.00
R4584:Paxbp1	UTSW	16	90,831,011 (GRCm39)	missense	probably damaging	1.00
R4596:Paxbp1	UTSW	16	90,827,435 (GRCm39)	missense	probably benign	0.28
R4837:Paxbp1	UTSW	16	90,831,866 (GRCm39)	nonsense	probably null
R4877:Paxbp1	UTSW	16	90,841,199 (GRCm39)	unclassified	probably benign
R5079:Paxbp1	UTSW	16	90,822,034 (GRCm39)	critical splice donor site	probably null
R5086:Paxbp1	UTSW	16	90,812,104 (GRCm39)	unclassified	probably benign
R5167:Paxbp1	UTSW	16	90,819,555 (GRCm39)	critical splice donor site	probably null
R5291:Paxbp1	UTSW	16	90,841,240 (GRCm39)	start codon destroyed	probably null
R5322:Paxbp1	UTSW	16	90,812,050 (GRCm39)	missense	probably benign	0.01
R5529:Paxbp1	UTSW	16	90,827,401 (GRCm39)	missense	possibly damaging	0.62
R5662:Paxbp1	UTSW	16	90,834,285 (GRCm39)	missense	probably benign	0.45
R5814:Paxbp1	UTSW	16	90,827,384 (GRCm39)	missense	probably damaging	1.00
R6422:Paxbp1	UTSW	16	90,820,332 (GRCm39)	missense	probably benign	0.07
R7225:Paxbp1	UTSW	16	90,823,956 (GRCm39)	missense	probably damaging	1.00
R7495:Paxbp1	UTSW	16	90,813,837 (GRCm39)	missense	probably damaging	1.00
R7582:Paxbp1	UTSW	16	90,819,555 (GRCm39)	critical splice donor site	probably null
R8261:Paxbp1	UTSW	16	90,834,303 (GRCm39)	missense	probably benign	0.09
R8280:Paxbp1	UTSW	16	90,831,123 (GRCm39)	missense	probably benign	0.00
R8338:Paxbp1	UTSW	16	90,833,435 (GRCm39)	missense	probably damaging	1.00
R8941:Paxbp1	UTSW	16	90,832,815 (GRCm39)	missense	possibly damaging	0.93
R9024:Paxbp1	UTSW	16	90,840,963 (GRCm39)	missense	possibly damaging	0.92
R9363:Paxbp1	UTSW	16	90,827,395 (GRCm39)	missense	probably damaging	0.99
R9638:Paxbp1	UTSW	16	90,831,882 (GRCm39)	missense	probably benign	0.00
R9638:Paxbp1	UTSW	16	90,831,881 (GRCm39)	missense	probably benign	0.02
R9751:Paxbp1	UTSW	16	90,824,188 (GRCm39)	missense	probably benign	0.00
X0026:Paxbp1	UTSW	16	90,824,130 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCACTGGTCTAGGAACAC -3'
(R):5'- AAGCAGTGTAGCTCAGGTGTTG -3'

Sequencing Primer
(F):5'- CTAGGAACACTAGGCACATCTG -3'
(R):5'- GGGTACTTTTTGCCGTAAAGCTAC -3'

Posted On

2019-12-20