Mutagenetix > Incidental Mutations

Incidental Mutation 'R3910:Paxbp1'

309353

Institutional Source

Beutler Lab

Gene Symbol

Paxbp1

Ensembl Gene

ENSMUSG00000022974

Gene Name

PAX3 and PAX7 binding protein 1

Synonyms

MMRRC Submission

040815-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R3910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91014037-91044543 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91042681 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 117 (E117V)

Ref Sequence

ENSEMBL: ENSMUSP00000113835 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023698
AA Change: E53V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: E53V

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: E117V

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

SMART Domains

Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: E117V

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

0.0904

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
4931409K22Rik	A	T	5: 24,545,442		probably benign	Het
9030624J02Rik	A	G	7: 118,746,390	T49A	possibly damaging	Het
Bod1l	T	C	5: 41,817,098	E2291G	probably damaging	Het
Cchcr1	T	C	17: 35,525,336	V341A	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Fap	A	G	2: 62,556,104	S58P	probably damaging	Het
Flnc	A	T	6: 29,459,427	T2509S	probably damaging	Het
Fnip2	A	T	3: 79,479,505	D971E	possibly damaging	Het
Gab2	A	G	7: 97,299,073	Y290C	probably damaging	Het
Gm7104	C	T	12: 88,284,594		noncoding transcript	Het
Ints10	T	A	8: 68,813,620	S478T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,562,783	R15W	probably damaging	Het
Lgr5	A	G	10: 115,587,463	S11P	possibly damaging	Het
Mycn	T	A	12: 12,937,280	N372I	probably damaging	Het
Olfr459	A	G	6: 41,772,149	V50A	probably benign	Het
Olfr700	A	T	7: 106,805,865	V199D	probably damaging	Het
Phc2	T	C	4: 128,743,558		probably null	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Rev3l	A	G	10: 39,820,556	I521M	probably damaging	Het
Robo3	A	T	9: 37,419,295	Y1002N	probably damaging	Het
Svep1	A	T	4: 58,145,156		probably null	Het
Thsd7a	A	G	6: 12,331,549	V1342A	probably damaging	Het
Tmtc3	A	C	10: 100,449,026	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,256,182		probably benign	Het
Trim30a	A	G	7: 104,411,141	V476A	probably damaging	Het
Ugt1a8	A	G	1: 88,088,048	E61G	possibly damaging	Het
Vmn1r75	A	T	7: 11,880,830	N163I	possibly damaging	Het
Zfp119a	G	A	17: 55,866,520	L108F	probably benign	Het

Other mutations in Paxbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Paxbp1	APN	16	91035916	splice site	probably benign
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
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
X0026:Paxbp1	UTSW	16	91027242	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGAACTGCTATCTTCTCTCAC -3'
(R):5'- TGAAGTTCCTTGGGTTACTCAC -3'

Sequencing Primer
(F):5'- AACTGCTATCTTCTCTCACTTGAAAG -3'
(R):5'- GGAACTCACTCTGTAGTCTAGGC -3'

Posted On

2015-04-17