Mutagenetix > Incidental Mutation

Incidental Mutation 'R4584:Paxbp1'

343961

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

041805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90810925-90841267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90831011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 455 (D455G)

Ref Sequence

ENSEMBL: ENSMUSP00000113835 (fasta)

Gene Model

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

AlphaFold

P58501

Predicted Effect

unknown
Transcript: ENSMUST00000023698
AA Change: D391G

SMART Domains

Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: D391G

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: D455G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: D455G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146281

Meta Mutation Damage Score

0.6211

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,886,756 (GRCm39)	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,594,979 (GRCm39)	D78E	possibly damaging	Het
A2m	C	A	6: 121,634,365 (GRCm39)	D632E	probably benign	Het
Alpk2	A	G	18: 65,440,035 (GRCm39)	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,675 (GRCm39)	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,222,468 (GRCm39)	P92S	probably benign	Het
Cdc34	T	A	10: 79,523,869 (GRCm39)	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,184,997 (GRCm39)	V1151G	probably damaging	Het
Cemip	T	C	7: 83,607,747 (GRCm39)	K753R	probably damaging	Het
Cep295	A	T	9: 15,246,095 (GRCm39)	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,995,727 (GRCm39)	N8S	probably benign	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,335,086 (GRCm39)	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,535,784 (GRCm39)	V171A	probably damaging	Het
Dnah12	C	A	14: 26,494,551 (GRCm39)	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Ep400	T	A	5: 110,881,763 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2-T15	A	T	17: 36,368,559 (GRCm39)	M123K	probably damaging	Het
Ighv1-66	T	A	12: 115,557,016 (GRCm39)	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 68,993,720 (GRCm39)	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,536,416 (GRCm39)	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,617,471 (GRCm39)		probably benign	Het
Kcnk3	G	T	5: 30,745,730 (GRCm39)	A24S	probably damaging	Het
Kif20a	A	G	18: 34,765,664 (GRCm39)	Y887C	probably damaging	Het
Klf13	T	C	7: 63,587,718 (GRCm39)	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,640,144 (GRCm39)	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,481,159 (GRCm39)	P82A	probably damaging	Het
Llgl1	T	A	11: 60,602,908 (GRCm39)	L861Q	probably damaging	Het
Lpcat2	A	G	8: 93,615,999 (GRCm39)	E305G	probably damaging	Het
Mib2	C	A	4: 155,741,744 (GRCm39)	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,269,766 (GRCm39)	E138G	probably damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ninj1	T	A	13: 49,347,442 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,725,104 (GRCm39)	V54E	possibly damaging	Het
Nlrc5	A	C	8: 95,203,903 (GRCm39)	I668L	probably damaging	Het
Npy6r	T	A	18: 44,409,262 (GRCm39)	C228S	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Nup107	T	C	10: 117,602,273 (GRCm39)	I513M	probably benign	Het
Oit3	T	C	10: 59,261,284 (GRCm39)	D461G	probably damaging	Het
Or2ab1	T	A	11: 58,488,830 (GRCm39)	F205I	probably benign	Het
Pcdh7	A	T	5: 57,878,625 (GRCm39)	T727S	probably damaging	Het
Pex14	G	A	4: 149,055,053 (GRCm39)	A113V	probably damaging	Het
Phc3	A	G	3: 31,020,031 (GRCm39)	V23A	possibly damaging	Het
Plec	T	C	15: 76,115,406 (GRCm39)	D56G	possibly damaging	Het
Plekha7	C	A	7: 115,836,768 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,422,140 (GRCm39)	E885G	probably damaging	Het
Prss1l	T	C	6: 41,373,701 (GRCm39)	L188P	probably benign	Het
Psd2	A	G	18: 36,145,881 (GRCm39)	T762A	probably benign	Het
Psme4	T	A	11: 30,784,318 (GRCm39)	H964Q	probably damaging	Het
Rbak	C	T	5: 143,161,878 (GRCm39)	V51I	probably benign	Het
Rbfa	A	G	18: 80,243,721 (GRCm39)	L15P	probably benign	Het
Ren1	T	C	1: 133,282,546 (GRCm39)	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,547,577 (GRCm39)	I311N	probably damaging	Het
Samd14	T	A	11: 94,912,361 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,026,403 (GRCm39)		probably benign	Het
Serpina12	A	T	12: 104,004,611 (GRCm39)	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,384,599 (GRCm39)	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,146,655 (GRCm39)	F382L	probably benign	Het
Snta1	T	A	2: 154,220,035 (GRCm39)	D375V	probably benign	Het
Stat5b	T	A	11: 100,678,064 (GRCm39)	Y683F	probably damaging	Het
Strip1	A	T	3: 107,531,819 (GRCm39)	Y257N	probably benign	Het
Sugp2	A	G	8: 70,704,548 (GRCm39)	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526 (GRCm39)	R3087*	probably null	Het
Syngr2	T	C	11: 117,703,947 (GRCm39)	V138A	probably damaging	Het
Thra	T	C	11: 98,655,310 (GRCm39)	F397L	probably benign	Het
Tmem45b	T	A	9: 31,339,951 (GRCm39)	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,687,553 (GRCm39)		probably null	Het
Ush2a	C	T	1: 188,183,995 (GRCm39)	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,774,820 (GRCm39)	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,226,582 (GRCm39)	M419L	probably benign	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp268	T	A	4: 145,343,747 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,995,145 (GRCm39)		probably benign	Het
Zfp568	T	G	7: 29,697,617 (GRCm39)	F100V	probably benign	Het
Zfp667	T	A	7: 6,293,624 (GRCm39)	D41E	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
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
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'- AAAACGTGCGCTCTGAGAC -3'
(R):5'- TCTTAAGGTTGGACTCCATGAAAG -3'

Sequencing Primer
(F):5'- AAGCACTGTGTTGGCCTC -3'
(R):5'- GTTGGACTCCATGAAAGAATTGCAC -3'

Posted On

2015-09-24