Mutagenetix > Incidental Mutations

Incidental Mutation 'R4591:Pbxip1'

499991

Institutional Source

Beutler Lab

Gene Symbol

Pbxip1

Ensembl Gene

ENSMUSG00000042613

Gene Name

pre B cell leukemia transcription factor interacting protein 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4591 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89436706-89450952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89446160 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 249 (L249Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038942] [ENSMUST00000130858] [ENSMUST00000145753] [ENSMUST00000146630]

Predicted Effect

probably benign
Transcript: ENSMUST00000038942
AA Change: L242Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: L242Q

Domain	Start	End	E-Value	Type
low complexity region	142	152	N/A	INTRINSIC
low complexity region	162	177	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
coiled coil region	270	350	N/A	INTRINSIC
coiled coil region	379	405	N/A	INTRINSIC
low complexity region	672	691	N/A	INTRINSIC
low complexity region	692	703	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130858
AA Change: L249Q

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613
AA Change: L249Q

Domain	Start	End	E-Value	Type
low complexity region	149	159	N/A	INTRINSIC
low complexity region	169	184	N/A	INTRINSIC
transmembrane domain	194	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141340

Predicted Effect

probably benign
Transcript: ENSMUST00000145753

SMART Domains

Protein: ENSMUSP00000121658
Gene: ENSMUSG00000042613

Domain	Start	End	E-Value	Type
low complexity region	142	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146630

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,870,266	S187P	possibly damaging	Het
4932438H23Rik	T	C	16: 91,056,071	N59S	probably damaging	Het
Abca15	A	T	7: 120,382,413	D1030V	probably damaging	Het
Acmsd	A	T	1: 127,749,197	N153I	probably damaging	Het
Adprh	C	A	16: 38,445,983	V266L	probably benign	Het
Aldh5a1	G	A	13: 24,924,008	P217S	probably damaging	Het
Alpk2	A	T	18: 65,305,823	L1300Q	probably benign	Het
Alyref	C	T	11: 120,595,973	R154Q	probably benign	Het
Ano6	T	A	15: 95,943,427	C468*	probably null	Het
Aox3	A	T	1: 58,152,656	I456F	probably damaging	Het
Art4	A	G	6: 136,854,757	Y129H	probably damaging	Het
Asb16	C	A	11: 102,276,725	H306N	probably damaging	Het
Atp8a2	C	A	14: 59,654,629	R1090L	probably benign	Het
Brap	G	T	5: 121,662,050	V1F	probably null	Het
C1qb	C	A	4: 136,882,217	G31W	probably damaging	Het
Cacna2d4	T	C	6: 119,298,464	Y666H	probably benign	Het
Casr	T	C	16: 36,500,370	N472S	probably benign	Het
Ccdc91	T	G	6: 147,590,465	S282A	unknown	Het
Cd300lg	A	G	11: 102,046,180	T164A	probably benign	Het
Cd79b	A	T	11: 106,312,046	D243E	probably damaging	Het
Cdh6	C	A	15: 13,051,486	V354F	possibly damaging	Het
Cdhr2	A	G	13: 54,715,684	N126S	probably benign	Het
Cep192	A	T	18: 67,834,968	N841I	probably damaging	Het
Cngb1	T	C	8: 95,253,384	T963A	probably damaging	Het
Col16a1	A	G	4: 130,061,799		probably null	Het
Coro1a	A	G	7: 126,702,992	V61A	probably damaging	Het
Crocc	T	A	4: 141,018,672	D1712V	probably damaging	Het
Ddn	T	C	15: 98,807,806	D3G	possibly damaging	Het
Dnal1	T	C	12: 84,133,853	F89S	probably benign	Het
Dusp3	T	A	11: 101,973,620		probably benign	Het
Dyrk3	C	A	1: 131,130,158	G58C	probably damaging	Het
Fat1	T	C	8: 45,026,242	F2775S	probably benign	Het
Frk	A	G	10: 34,605,833	N373S	probably benign	Het
Glmn	A	G	5: 107,561,051		probably null	Het
Gm11565	A	T	11: 99,914,943	T54S	possibly damaging	Het
Gm14410	A	G	2: 177,194,027	I148T	possibly damaging	Het
Gm21834	T	A	17: 57,741,885	H112L	possibly damaging	Het
Gm5862	A	G	5: 26,019,488	I161T	possibly damaging	Het
Grid2	G	T	6: 64,320,102	G483V	probably damaging	Het
Hfm1	A	T	5: 106,847,667	S1293T	probably benign	Het
Il1a	G	A	2: 129,306,527	R88W	probably damaging	Het
Il20rb	A	T	9: 100,474,990	V29D	possibly damaging	Het
Ilvbl	C	T	10: 78,583,305	L463F	probably benign	Het
Kif17	A	G	4: 138,277,799	E225G	probably benign	Het
Lrp2	A	G	2: 69,536,075	F227L	probably damaging	Het
Lrrc43	A	G	5: 123,501,164	M419V	probably benign	Het
Magel2	A	G	7: 62,381,089	Q1247R	unknown	Het
Mamdc4	T	A	2: 25,564,597	M1068L	possibly damaging	Het
Marc1	T	C	1: 184,807,168	E102G	probably benign	Het
Mdn1	T	G	4: 32,707,636	S1642A	probably damaging	Het
Mtcl1	T	C	17: 66,348,511	E819G	probably benign	Het
Naa15	T	C	3: 51,441,924	L38P	probably damaging	Het
Nlrp3	A	G	11: 59,549,222	R542G	probably benign	Het
Olfr1456-ps1	ACAC	ACACGCAC	19: 13,078,902		noncoding transcript	Het
Olfr201	A	C	16: 59,269,413	F85V	possibly damaging	Het
Olfr462	A	G	11: 87,889,549	S116P	probably benign	Het
Olfr95	C	T	17: 37,211,119	V245I	probably benign	Het
Pla2g7	T	C	17: 43,600,559	S201P	probably damaging	Het
Psmd1	G	T	1: 86,128,204	V763F	probably benign	Het
Ptp4a2	A	G	4: 129,846,515	E124G	probably benign	Het
Rab6b	T	C	9: 103,167,174		probably null	Het
Rbks	T	A	5: 31,660,008	K139M	possibly damaging	Het
Rgs22	T	A	15: 36,100,136	E268D	probably benign	Het
Slc16a9	T	G	10: 70,282,880	L343R	probably damaging	Het
Smagp	T	C	15: 100,621,979	I55V	probably damaging	Het
Sox13	T	C	1: 133,383,683	S604G	probably damaging	Het
St6gal1	G	T	16: 23,321,294	V72F	probably benign	Het
Stxbp4	A	G	11: 90,594,780	V247A	probably benign	Het
Susd3	A	T	13: 49,231,260	M217K	possibly damaging	Het
Tas2r129	T	A	6: 132,951,611	N170K	probably benign	Het
Tmem245	C	A	4: 56,910,204	A515S	probably damaging	Het
Tpte	T	C	8: 22,327,775	V259A	probably benign	Het
Trpa1	T	C	1: 14,882,108		probably null	Het
Ttc28	G	A	5: 111,223,281	R532H	probably damaging	Het
Vwa5a	A	T	9: 38,735,620	N529I	possibly damaging	Het
Zfp574	T	C	7: 25,079,544		probably benign	Het

Other mutations in Pbxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Pbxip1	APN	3	89443590	splice site	probably benign
IGL02612:Pbxip1	APN	3	89443681	missense	probably damaging	1.00
IGL02718:Pbxip1	APN	3	89448004	missense	probably damaging	1.00
R0538:Pbxip1	UTSW	3	89447619	missense	possibly damaging	0.79
R0549:Pbxip1	UTSW	3	89443592	splice site	probably benign
R1460:Pbxip1	UTSW	3	89445614	missense	probably damaging	1.00
R1931:Pbxip1	UTSW	3	89447677	unclassified	probably null
R1966:Pbxip1	UTSW	3	89445488	missense	probably damaging	1.00
R2008:Pbxip1	UTSW	3	89448713	missense	probably benign	0.20
R3435:Pbxip1	UTSW	3	89447236	missense	probably damaging	0.99
R4504:Pbxip1	UTSW	3	89446383	missense	possibly damaging	0.48
R5491:Pbxip1	UTSW	3	89443159	missense	probably benign	0.09
R6051:Pbxip1	UTSW	3	89443170	missense	probably benign	0.08
R6620:Pbxip1	UTSW	3	89447826	missense	probably benign	0.12
R7203:Pbxip1	UTSW	3	89447428	missense	possibly damaging	0.68
R7259:Pbxip1	UTSW	3	89445633	missense	probably benign
R7604:Pbxip1	UTSW	3	89445595	missense	probably benign	0.01
R7687:Pbxip1	UTSW	3	89448199	missense	probably damaging	1.00
R7710:Pbxip1	UTSW	3	89448101	missense	probably damaging	1.00
X0012:Pbxip1	UTSW	3	89445523	missense	possibly damaging	0.91
X0012:Pbxip1	UTSW	3	89446383	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TTATCCCTTTAACTCAGCAGGACG -3'
(R):5'- AGAAACCCCATGCTCTGCAG -3'

Sequencing Primer
(F):5'- CTTTAACTCAGCAGGACGACAGG -3'
(R):5'- AGGCTGGGGACACTGTCTG -3'

Posted On

2017-11-30