Mutagenetix > Incidental Mutations

Incidental Mutation 'R7980:Pbxip1'

651120

Institutional Source

Beutler Lab

Gene Symbol

Pbxip1

Ensembl Gene

ENSMUSG00000042613

Gene Name

pre B cell leukemia transcription factor interacting protein 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89436706-89450952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 89446341 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 267 (S267T)

Ref Sequence

ENSEMBL: ENSMUSP00000040429 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038942
AA Change: S267T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: S267T

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,868,078	L101P	unknown	Het
5430419D17Rik	T	A	7: 131,234,777	V400E	probably damaging	Het
Actn3	G	A	19: 4,867,922	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,337	C595Y	probably damaging	Het
Agl	A	T	3: 116,792,181	N99K	probably benign	Het
Aplp1	A	T	7: 30,435,567	M592K	probably benign	Het
Arhgef11	C	T	3: 87,697,990	R251C	probably benign	Het
Arhgef12	A	T	9: 42,971,299	C1416*	probably null	Het
Asah1	A	G	8: 41,354,030	M119T		Het
Asxl2	A	T	12: 3,496,630	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,321,612	D61E	probably damaging	Het
Btbd16	C	A	7: 130,824,367	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,604,515	E22G	probably benign	Het
Catspere2	G	T	1: 178,003,044		probably null	Het
Cdc25a	T	A	9: 109,879,881	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,231,855		probably benign	Het
Cfap54	T	C	10: 92,982,060	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,884,527	H11R	probably damaging	Het
Chil4	T	C	3: 106,202,744	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,188,893	I1283V	probably benign	Het
Dagla	C	T	19: 10,252,042	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,011,445	V224M	possibly damaging	Het
Dohh	C	T	10: 81,387,892	R260*	probably null	Het
Dsg3	A	T	18: 20,531,360	N472Y	probably benign	Het
Duox1	T	A	2: 122,347,320	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,833,205	Y559H	probably damaging	Het
Esp4	A	G	17: 40,602,301	T20A	possibly damaging	Het
Fbxw21	T	C	9: 109,156,571		probably null	Het
Gcc2	T	A	10: 58,278,752		probably null	Het
Gm9774	T	A	3: 92,429,099	K99*	probably null	Het
Grin3b	C	T	10: 79,975,725	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,787,209		probably null	Het
Hspa4	A	T	11: 53,280,577	S267T	probably benign	Het
Hspd1	A	G	1: 55,078,626	V491A	possibly damaging	Het
Idua	A	G	5: 108,680,620	E280G	probably benign	Het
Ift172	T	A	5: 31,260,644	E1267V	probably benign	Het
Itsn1	T	A	16: 91,905,294	V1448E	unknown	Het
Kat6a	A	G	8: 22,926,416	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,711,297	D407E	probably benign	Het
Kif1b	A	T	4: 149,269,921	F221I	probably damaging	Het
Lama2	G	T	10: 27,363,613	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,878,176	L235F	probably damaging	Het
Map2k6	T	A	11: 110,499,384	I248N		Het
Mgat5	A	G	1: 127,479,511	Q638R	probably benign	Het
Mia2	A	G	12: 59,108,865	K455E	probably damaging	Het
Mrs2	A	G	13: 25,020,238	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,237,357	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,190,884	Q186L	probably benign	Het
Oas1f	A	G	5: 120,851,475	E159G	probably benign	Het
Olfr1024	A	G	2: 85,904,598	F152S	probably benign	Het
Olfr130	A	T	17: 38,067,521	M117L	possibly damaging	Het
Olfr460	T	A	6: 40,572,220	I278N	probably benign	Het
Olfr591	T	A	7: 103,173,035	S201C	probably damaging	Het
Olfr603	T	A	7: 103,383,763	I80F	probably damaging	Het
Olfr608	T	A	7: 103,470,297	F86Y	probably damaging	Het
Olfr725	T	A	14: 50,034,795	S203C	probably damaging	Het
Olfr967	T	C	9: 39,751,121	I245T	probably damaging	Het
Pcdhga10	A	T	18: 37,748,592	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,854,375	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,565,305	N788T	probably benign	Het
Pms2	T	A	5: 143,931,091	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,536,562	V926D	probably damaging	Het
Pros1	A	T	16: 62,928,153	H663L	possibly damaging	Het
Prss55	T	C	14: 64,078,689		probably null	Het
Pum2	T	C	12: 8,713,904	Y283H	probably damaging	Het
Rad21	A	G	15: 51,965,026	S549P	probably benign	Het
Sap130	T	A	18: 31,648,129		probably null	Het
Sertad4	C	T	1: 192,846,881	S209N	probably benign	Het
Sez6	A	G	11: 77,953,842	T164A	probably benign	Het
Slc22a28	C	T	19: 8,101,473	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,836,925	K474R	probably benign	Het
Stx5a	T	C	19: 8,742,438	S56P	probably damaging	Het
Svopl	T	C	6: 38,014,809	T379A	probably damaging	Het
Sypl2	A	G	3: 108,217,692	F118L	probably damaging	Het
Tfrc	G	A	16: 32,617,149	V215M	probably benign	Het
Thnsl2	T	C	6: 71,138,668	N185S	probably damaging	Het
Tmem104	T	C	11: 115,243,754	I372T	probably damaging	Het
Tnfaip6	G	A	2: 52,051,058	G204S	probably damaging	Het
Trim12a	C	T	7: 104,304,128	E259K	probably benign	Het
Tubgcp6	G	A	15: 89,102,029	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,840,627	L246F	probably damaging	Het
Ubr4	G	T	4: 139,418,406	V216F		Het
Unc5a	A	G	13: 54,999,506	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,258,414	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,553,321	L157*	probably null	Het
Zcchc24	A	G	14: 25,719,761	Y160H	probably damaging	Het
Zfp184	A	T	13: 21,960,206	H694L	probably damaging	Het
Zfp345	A	C	2: 150,472,803	Y271*	probably null	Het
Zranb3	T	C	1: 128,102,934		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	splice site	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
R4591:Pbxip1	UTSW	3	89446160	missense	probably benign	0.33
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
R8218:Pbxip1	UTSW	3	89445595	missense	probably benign
X0012:Pbxip1	UTSW	3	89445523	missense	possibly damaging	0.91
X0012:Pbxip1	UTSW	3	89446383	missense	possibly damaging	0.48
Z1177:Pbxip1	UTSW	3	89447220	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GACTGAACTGGTAGAGACTCTGG -3'
(R):5'- CCCTCACTACAGTGGCAAAG -3'

Sequencing Primer
(F):5'- CTGGTAGAGACTCTGGGGAAC -3'
(R):5'- TGGCAAAGGGCGAGGCTC -3'

Posted On

2020-09-15