Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Pbxip1'

727378

Institutional Source

Beutler Lab

Gene Symbol

Pbxip1

Ensembl Gene

ENSMUSG00000042613

Gene Name

pre B cell leukemia transcription factor interacting protein 1

Synonyms

4732463H20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89344013-89358259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89355056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 525 (D525G)

Ref Sequence

ENSEMBL: ENSMUSP00000040429 (fasta)

Gene Model

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

AlphaFold

Q3TVI8

Predicted Effect

probably benign
Transcript: ENSMUST00000038942
AA Change: D525G

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

SMART Domains

Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: D525G

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

SMART Domains

Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,243,379 (GRCm39)	D1747E	probably benign	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Atp2b4	T	C	1: 133,656,478 (GRCm39)	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,599 (GRCm39)	S63P	probably damaging	Het
Blzf1	T	C	1: 164,134,023 (GRCm39)	S9G	probably benign	Het
Ccdc121rt1	T	C	1: 181,338,104 (GRCm39)	T283A	probably benign	Het
Cdh22	T	C	2: 164,965,715 (GRCm39)	D488G	probably benign	Het
Cep290	A	G	10: 100,351,003 (GRCm39)	E688G	possibly damaging	Het
Cldn10	A	C	14: 119,025,781 (GRCm39)	E71D	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,386,979 (GRCm39)	D337G	probably null	Het
Dnah5	A	T	15: 28,410,089 (GRCm39)	D3654V	probably damaging	Het
Dock1	T	C	7: 134,339,429 (GRCm39)	S100P	possibly damaging	Het
Hdgfl2	T	C	17: 56,405,978 (GRCm39)	V488A	unknown	Het
Itih2	T	C	2: 10,107,686 (GRCm39)	T627A	probably damaging	Het
Katnip	A	G	7: 125,441,956 (GRCm39)	S648G	probably benign	Het
Klhl33	T	C	14: 51,134,117 (GRCm39)	D144G	probably benign	Het
Lca5l	G	A	16: 95,974,953 (GRCm39)	Q324*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mical2	A	G	7: 111,921,806 (GRCm39)	T542A	probably benign	Het
Moxd1	T	A	10: 24,128,485 (GRCm39)	V179E	probably benign	Het
Myh7b	A	G	2: 155,455,963 (GRCm39)	Y116C	probably damaging	Het
Myoc	C	T	1: 162,467,229 (GRCm39)	R133*	probably null	Het
Nol3	A	T	8: 106,005,641 (GRCm39)	I12F	probably damaging	Het
Nrap	A	G	19: 56,352,377 (GRCm39)	V605A	probably benign	Het
Or5w13	T	C	2: 87,524,121 (GRCm39)	Y35C	probably damaging	Het
Or9m2	A	C	2: 87,821,310 (GRCm39)	N285T	probably damaging	Het
Pag1	G	T	3: 9,769,791 (GRCm39)	S52R	probably damaging	Het
Pla2g4f	A	G	2: 120,135,138 (GRCm39)	F437L	probably benign	Het
Podn	A	C	4: 107,884,231 (GRCm39)	I86S	probably damaging	Het
Postn	A	G	3: 54,290,820 (GRCm39)	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,638,718 (GRCm39)	E104G	probably benign	Het
Prss53	T	C	7: 127,486,238 (GRCm39)	T436A	probably damaging	Het
Psme4	A	T	11: 30,788,980 (GRCm39)	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,512,473 (GRCm39)	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,377 (GRCm39)	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,581,372 (GRCm39)	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,557,155 (GRCm39)	I28T	unknown	Het
Rapgef2	A	T	3: 78,999,191 (GRCm39)	V527E	probably damaging	Het
Rere	C	A	4: 150,699,390 (GRCm39)	P825T	unknown	Het
Rundc3a	A	G	11: 102,291,578 (GRCm39)	T349A	probably benign	Het
Scn2a	T	C	2: 65,566,032 (GRCm39)	F1352S	probably damaging	Het
Senp7	T	A	16: 55,944,295 (GRCm39)	C206*	probably null	Het
Serac1	C	T	17: 6,119,658 (GRCm39)	V91I	probably benign	Het
Serpina1f	G	A	12: 103,656,050 (GRCm39)	Q393*	probably null	Het
Slc8a1	T	C	17: 81,955,244 (GRCm39)	E598G	probably damaging	Het
Slmap	A	T	14: 26,151,013 (GRCm39)	H518Q	probably benign	Het
Spg11	G	A	2: 121,910,781 (GRCm39)	R1199C	probably damaging	Het
Tada1	T	C	1: 166,214,312 (GRCm39)	S104P	possibly damaging	Het
Tbck	A	G	3: 132,421,451 (GRCm39)	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,002,824 (GRCm39)	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,630,260 (GRCm39)		probably null	Het
Trim55	G	A	3: 19,728,671 (GRCm39)	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,237,010 (GRCm39)	M1L	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,133 (GRCm39)	S32R	probably damaging	Het
Vgll3	T	C	16: 65,636,343 (GRCm39)	S220P	probably benign	Het
Virma	A	G	4: 11,544,898 (GRCm39)	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,246,984 (GRCm39)	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,510,690 (GRCm39)	S597P	probably damaging	Het
Wdr7	A	G	18: 64,057,918 (GRCm39)	D1249G	probably damaging	Het
Wdr97	A	G	15: 76,245,476 (GRCm39)	Y1271C		Het
Yju2b	T	C	8: 84,987,084 (GRCm39)	K138E	possibly damaging	Het
Ypel4	A	G	2: 84,568,068 (GRCm39)	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,027,766 (GRCm39)	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,575,729 (GRCm39)	C451S	probably damaging	Het

Other mutations in Pbxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Pbxip1	APN	3	89,350,897 (GRCm39)	splice site	probably benign
IGL02612:Pbxip1	APN	3	89,350,988 (GRCm39)	missense	probably damaging	1.00
IGL02718:Pbxip1	APN	3	89,355,311 (GRCm39)	missense	probably damaging	1.00
R0538:Pbxip1	UTSW	3	89,354,926 (GRCm39)	missense	possibly damaging	0.79
R0549:Pbxip1	UTSW	3	89,350,899 (GRCm39)	splice site	probably benign
R1460:Pbxip1	UTSW	3	89,352,921 (GRCm39)	missense	probably damaging	1.00
R1931:Pbxip1	UTSW	3	89,354,984 (GRCm39)	splice site	probably null
R1966:Pbxip1	UTSW	3	89,352,795 (GRCm39)	missense	probably damaging	1.00
R2008:Pbxip1	UTSW	3	89,356,020 (GRCm39)	missense	probably benign	0.20
R3435:Pbxip1	UTSW	3	89,354,543 (GRCm39)	missense	probably damaging	0.99
R4504:Pbxip1	UTSW	3	89,353,690 (GRCm39)	missense	possibly damaging	0.48
R4591:Pbxip1	UTSW	3	89,353,467 (GRCm39)	missense	probably benign	0.33
R5491:Pbxip1	UTSW	3	89,350,466 (GRCm39)	missense	probably benign	0.09
R6051:Pbxip1	UTSW	3	89,350,477 (GRCm39)	missense	probably benign	0.08
R6620:Pbxip1	UTSW	3	89,355,133 (GRCm39)	missense	probably benign	0.12
R7203:Pbxip1	UTSW	3	89,354,735 (GRCm39)	missense	possibly damaging	0.68
R7259:Pbxip1	UTSW	3	89,352,940 (GRCm39)	missense	probably benign
R7604:Pbxip1	UTSW	3	89,352,902 (GRCm39)	missense	probably benign	0.01
R7687:Pbxip1	UTSW	3	89,355,506 (GRCm39)	missense	probably damaging	1.00
R7710:Pbxip1	UTSW	3	89,355,408 (GRCm39)	missense	probably damaging	1.00
R7980:Pbxip1	UTSW	3	89,353,648 (GRCm39)	missense	probably benign	0.44
R8218:Pbxip1	UTSW	3	89,352,902 (GRCm39)	missense	probably benign
R8754:Pbxip1	UTSW	3	89,355,235 (GRCm39)	missense	probably damaging	1.00
R8923:Pbxip1	UTSW	3	89,352,921 (GRCm39)	missense	possibly damaging	0.78
R8951:Pbxip1	UTSW	3	89,352,864 (GRCm39)	missense	probably benign	0.05
R9043:Pbxip1	UTSW	3	89,350,794 (GRCm39)	missense	probably benign
R9253:Pbxip1	UTSW	3	89,351,012 (GRCm39)	missense	probably benign	0.01
R9398:Pbxip1	UTSW	3	89,354,941 (GRCm39)	missense	probably benign	0.06
R9651:Pbxip1	UTSW	3	89,352,795 (GRCm39)	missense	probably damaging	1.00
X0012:Pbxip1	UTSW	3	89,353,690 (GRCm39)	missense	possibly damaging	0.48
X0012:Pbxip1	UTSW	3	89,352,830 (GRCm39)	missense	possibly damaging	0.91
Z1177:Pbxip1	UTSW	3	89,354,527 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GGTATCAACACTGGCAGGTC -3'
(R):5'- GTATTCTCTCAGCACAGAGGCC -3'

Sequencing Primer
(F):5'- AATGACTCGGAGGCCTGG -3'
(R):5'- ACCTGAACAGCCCTGAGG -3'

Posted On

2022-10-06