Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Paxbp1'

375017

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

042486-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4877 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

90810925-90841267 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 90841199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

unknown
Transcript: ENSMUST00000118522
AA Change: D15G

SMART Domains

Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: D15G

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

noncoding transcript
Transcript: ENSMUST00000127002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147848

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	probably 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
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
R7895:Paxbp1	UTSW	16	90,822,166 (GRCm39)	missense	probably damaging	1.00
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'- ACCTCTTTGTTCTCGCGAGG -3'
(R):5'- AAGAGACTCCGCCCAAGTAG -3'

Sequencing Primer
(F):5'- GTTCTCGCGAGGCCTCTTG -3'
(R):5'- GCATGCGCAATCGAGGC -3'

Posted On

2016-03-17