Mutagenetix > Incidental Mutation

Incidental Mutation 'R7259:Pbxip1'

564464

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

045351-MU

Accession Numbers

Essential gene?

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

Stock #

R7259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89344013-89358259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89352940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 195 (F195L)

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: F195L

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

SMART Domains

Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: F195L

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: F202L

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

SMART Domains

Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613
AA Change: F202L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,620,288 (GRCm39)	Y258C	probably benign	Het
Aebp2	A	G	6: 140,579,494 (GRCm39)	S244G	probably benign	Het
Agl	A	T	3: 116,578,230 (GRCm39)	Y495N	probably damaging	Het
Arhgap33	A	G	7: 30,231,625 (GRCm39)	V120A	probably damaging	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atp2a2	A	G	5: 122,604,132 (GRCm39)	Y434H	probably benign	Het
Atrnl1	C	T	19: 57,924,038 (GRCm39)	R1268*	probably null	Het
AW554918	A	G	18: 25,422,906 (GRCm39)		probably null	Het
Canx	A	G	11: 50,192,643 (GRCm39)	W324R	probably damaging	Het
Col9a1	A	G	1: 24,224,424 (GRCm39)	E202G	unknown	Het
Crh	C	A	3: 19,748,418 (GRCm39)	A75S	possibly damaging	Het
Ctnnal1	T	A	4: 56,817,299 (GRCm39)		probably null	Het
Dmrta2	T	A	4: 109,839,104 (GRCm39)	S284T	possibly damaging	Het
Dock1	T	C	7: 134,384,477 (GRCm39)	V680A	probably damaging	Het
Duox2	G	A	2: 122,125,657 (GRCm39)	R317C	probably damaging	Het
Elmod2	A	G	8: 84,048,138 (GRCm39)	L108P	probably damaging	Het
Exoc6b	A	G	6: 84,825,792 (GRCm39)	S540P	probably benign	Het
Fsip2	C	T	2: 82,812,474 (GRCm39)	A2931V	possibly damaging	Het
Gipc2	A	T	3: 151,833,693 (GRCm39)	I196K	probably damaging	Het
Gli2	A	G	1: 118,764,264 (GRCm39)	S1296P	probably benign	Het
Gm21103	T	A	14: 17,482,882 (GRCm39)	Q173L	probably damaging	Het
Gpatch1	A	T	7: 34,986,546 (GRCm39)		probably null	Het
Grm8	G	A	6: 27,760,175 (GRCm39)	T385I	probably null	Het
Gtf2f1	C	A	17: 57,311,562 (GRCm39)	D283Y	probably damaging	Het
Hcar1	T	A	5: 124,017,275 (GRCm39)	T139S	possibly damaging	Het
Hcrtr1	T	A	4: 130,029,611 (GRCm39)	T157S	possibly damaging	Het
Htra2	T	G	6: 83,028,520 (GRCm39)	Q436P	possibly damaging	Het
Igkv1-133	A	G	6: 67,702,522 (GRCm39)	D80G	probably benign	Het
Il21	C	A	3: 37,281,803 (GRCm39)		probably null	Het
Inpp5f	T	A	7: 128,271,681 (GRCm39)	C359S	probably benign	Het
Itgb6	A	T	2: 60,480,355 (GRCm39)	I327N	probably damaging	Het
Itgbl1	A	T	14: 124,081,316 (GRCm39)	T232S	probably damaging	Het
Kif1a	T	A	1: 93,001,532 (GRCm39)	K266*	probably null	Het
Mcm10	C	A	2: 5,011,328 (GRCm39)	E214D	probably benign	Het
Mefv	T	A	16: 3,530,917 (GRCm39)	I522F	probably damaging	Het
Naaladl2	T	A	3: 24,112,340 (GRCm39)	I581F	possibly damaging	Het
Naip6	A	T	13: 100,440,863 (GRCm39)	Y306N	probably damaging	Het
Opn1sw	T	A	6: 29,378,911 (GRCm39)	H247L	probably benign	Het
Or4c119	A	C	2: 88,986,854 (GRCm39)	F222V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,966 (GRCm39)	M67K	probably damaging	Het
Or5k1b	T	C	16: 58,580,868 (GRCm39)	T224A	possibly damaging	Het
Or6c68	T	A	10: 129,157,663 (GRCm39)	M57K	probably benign	Het
Pcdh12	A	T	18: 38,414,677 (GRCm39)	F816Y	probably benign	Het
Pi4k2b	C	A	5: 52,910,587 (GRCm39)	N290K	probably damaging	Het
Pias2	T	C	18: 77,240,416 (GRCm39)	S598P	possibly damaging	Het
Ppfia4	A	G	1: 134,240,838 (GRCm39)	V835A	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Scg2	T	C	1: 79,414,702 (GRCm39)	Y7C	probably benign	Het
Sec16a	A	G	2: 26,331,604 (GRCm39)	V137A	probably benign	Het
Setdb1	G	A	3: 95,247,224 (GRCm39)	T525I	probably benign	Het
Sgcg	A	T	14: 61,462,666 (GRCm39)	I227N	probably benign	Het
Slc35e4	A	T	11: 3,862,530 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Stk10	A	G	11: 32,548,497 (GRCm39)	N355S	probably benign	Het
Supt6	A	T	11: 78,098,442 (GRCm39)	D1716E	probably damaging	Het
Taok3	C	T	5: 117,390,608 (GRCm39)	A523V	probably benign	Het
Tekt3	A	G	11: 62,974,592 (GRCm39)	T304A	possibly damaging	Het
Ttc6	G	T	12: 57,622,970 (GRCm39)	R123L	probably benign	Het
Tyw1	T	A	5: 130,296,713 (GRCm39)		probably null	Het
Ulk2	A	G	11: 61,672,909 (GRCm39)	L895P	probably damaging	Het
Unc13c	A	T	9: 73,424,645 (GRCm39)	N1990K	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wipf1	A	G	2: 73,265,425 (GRCm39)	S393P	probably damaging	Het
Yju2b	T	C	8: 84,986,946 (GRCm39)	S184G	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
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
R9657:Pbxip1	UTSW	3	89,355,056 (GRCm39)	missense	probably benign
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'- CAGTTTGGAAAGAGCATCGC -3'
(R):5'- ACCTTACCTGAGAGCCTCTC -3'

Sequencing Primer
(F):5'- TGACGACGACACTGATGT -3'
(R):5'- AGAAAGCCAGGGCCTCTC -3'

Posted On

2019-06-26