Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01431:Paxbp1'

84133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Paxbp1

Ensembl Gene

ENSMUSG00000022974

Gene Name

PAX3 and PAX7 binding protein 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

91014037-91044543 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 91035916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113835 (fasta)

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

probably benign
Transcript: ENSMUST00000118522

SMART Domains

Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974

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: ENSMUST00000124653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127002

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Got1	T	A	19: 43,503,049	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Ripply3	G	A	16: 94,328,543	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rrm1	C	A	7: 102,457,552		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223	T1591K	possibly damaging	Het

Other mutations in Paxbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Paxbp1	APN	16	91016988	missense	probably benign	0.01
IGL02418:Paxbp1	APN	16	91034112	missense	probably damaging	1.00
IGL02527:Paxbp1	APN	16	91037273	missense	possibly damaging	0.57
IGL02661:Paxbp1	APN	16	91030525	missense	probably benign	0.43
IGL02796:Paxbp1	APN	16	91025294	unclassified	probably benign
IGL03336:Paxbp1	APN	16	91034172	missense	probably benign
R0016:Paxbp1	UTSW	16	91036036	splice site	probably benign
R0306:Paxbp1	UTSW	16	91022115	missense	possibly damaging	0.54
R0331:Paxbp1	UTSW	16	91037367	missense	possibly damaging	0.95
R0724:Paxbp1	UTSW	16	91036536	missense	probably damaging	1.00
R0944:Paxbp1	UTSW	16	91023427	missense	probably benign	0.25
R1348:Paxbp1	UTSW	16	91035016	missense	probably damaging	0.97
R1909:Paxbp1	UTSW	16	91044305	unclassified	probably benign
R2234:Paxbp1	UTSW	16	91034934	missense	probably benign	0.05
R3156:Paxbp1	UTSW	16	91035990	missense	probably benign	0.00
R3819:Paxbp1	UTSW	16	91022752	unclassified	probably benign
R3910:Paxbp1	UTSW	16	91042681	missense	probably damaging	1.00
R3949:Paxbp1	UTSW	16	91044017	missense	probably damaging	1.00
R4109:Paxbp1	UTSW	16	91016898	missense	probably benign	0.10
R4577:Paxbp1	UTSW	16	91015154	missense	probably damaging	1.00
R4584:Paxbp1	UTSW	16	91034123	missense	probably damaging	1.00
R4596:Paxbp1	UTSW	16	91030547	missense	probably benign	0.28
R4837:Paxbp1	UTSW	16	91034978	nonsense	probably null
R4877:Paxbp1	UTSW	16	91044311	unclassified	probably benign
R5079:Paxbp1	UTSW	16	91025146	critical splice donor site	probably null
R5086:Paxbp1	UTSW	16	91015216	unclassified	probably benign
R5167:Paxbp1	UTSW	16	91022667	critical splice donor site	probably null
R5291:Paxbp1	UTSW	16	91044352	start codon destroyed	probably null
R5322:Paxbp1	UTSW	16	91015162	missense	probably benign	0.01
R5529:Paxbp1	UTSW	16	91030513	missense	possibly damaging	0.62
R5662:Paxbp1	UTSW	16	91037397	missense	probably benign	0.45
R5814:Paxbp1	UTSW	16	91030496	missense	probably damaging	1.00
R6422:Paxbp1	UTSW	16	91023444	missense	probably benign	0.07
R7225:Paxbp1	UTSW	16	91027068	missense	probably damaging	1.00
R7495:Paxbp1	UTSW	16	91016949	missense	probably damaging	1.00
R7582:Paxbp1	UTSW	16	91022667	critical splice donor site	probably null
R7895:Paxbp1	UTSW	16	91025278	missense	probably damaging	1.00
R8261:Paxbp1	UTSW	16	91037415	missense	probably benign	0.09
R8280:Paxbp1	UTSW	16	91034235	missense	probably benign	0.00
R8338:Paxbp1	UTSW	16	91036547	missense	probably damaging	1.00
R8941:Paxbp1	UTSW	16	91035927	missense	possibly damaging	0.93
R9024:Paxbp1	UTSW	16	91044075	missense	possibly damaging	0.92
R9363:Paxbp1	UTSW	16	91030507	missense	probably damaging	0.99
X0026:Paxbp1	UTSW	16	91027242	missense	probably damaging	1.00

Posted On

2013-11-11