Mutagenetix > Incidental Mutation

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

4732463H20Rik

MMRRC Submission

046021-MU

Accession Numbers

Essential gene?

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

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89344013-89358259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 89353648 bp (GRCm39)

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]

AlphaFold

Q3TVI8

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: 88,786,315 (GRCm39)	L101P	unknown	Het
Actn3	G	A	19: 4,917,950 (GRCm39)	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,423 (GRCm39)	C595Y	probably damaging	Het
Adrm1b	T	A	3: 92,336,406 (GRCm39)	K99*	probably null	Het
Agl	A	T	3: 116,585,830 (GRCm39)	N99K	probably benign	Het
Aplp1	A	T	7: 30,134,992 (GRCm39)	M592K	probably benign	Het
Arhgef11	C	T	3: 87,605,297 (GRCm39)	R251C	probably benign	Het
Arhgef12	A	T	9: 42,882,595 (GRCm39)	C1416*	probably null	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Asxl2	A	T	12: 3,546,630 (GRCm39)	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Btbd16	C	A	7: 130,426,097 (GRCm39)	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,609,326 (GRCm39)	E22G	probably benign	Het
Catspere2	G	T	1: 177,830,610 (GRCm39)		probably null	Het
Cdc25a	T	A	9: 109,708,949 (GRCm39)	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,139,166 (GRCm39)		probably benign	Het
Cdcp3	T	A	7: 130,836,506 (GRCm39)	V400E	probably damaging	Het
Cfap54	T	C	10: 92,817,922 (GRCm39)	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,681,415 (GRCm39)	H11R	probably damaging	Het
Chil4	T	C	3: 106,110,060 (GRCm39)	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,079,719 (GRCm39)	I1283V	probably benign	Het
Dagla	C	T	19: 10,229,406 (GRCm39)	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,738,077 (GRCm39)	V224M	possibly damaging	Het
Dohh	C	T	10: 81,223,726 (GRCm39)	R260*	probably null	Het
Dsg3	A	T	18: 20,664,417 (GRCm39)	N472Y	probably benign	Het
Duox1	T	A	2: 122,177,801 (GRCm39)	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,783,205 (GRCm39)	Y559H	probably damaging	Het
Esp4	A	G	17: 40,913,192 (GRCm39)	T20A	possibly damaging	Het
Fbxw21	T	C	9: 108,985,639 (GRCm39)		probably null	Het
Gcc2	T	A	10: 58,114,574 (GRCm39)		probably null	Het
Grin3b	C	T	10: 79,811,559 (GRCm39)	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,764,170 (GRCm39)		probably null	Het
Hspa4	A	T	11: 53,171,404 (GRCm39)	S267T	probably benign	Het
Hspd1	A	G	1: 55,117,785 (GRCm39)	V491A	possibly damaging	Het
Idua	A	G	5: 108,828,486 (GRCm39)	E280G	probably benign	Het
Ift172	T	A	5: 31,417,988 (GRCm39)	E1267V	probably benign	Het
Itsn1	T	A	16: 91,702,182 (GRCm39)	V1448E	unknown	Het
Kat6a	A	G	8: 23,416,432 (GRCm39)	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif1b	A	T	4: 149,354,378 (GRCm39)	F221I	probably damaging	Het
Lama2	G	T	10: 27,239,609 (GRCm39)	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,720,096 (GRCm39)	L235F	probably damaging	Het
Map2k6	T	A	11: 110,390,210 (GRCm39)	I248N		Het
Mgat5	A	G	1: 127,407,248 (GRCm39)	Q638R	probably benign	Het
Mia2	A	G	12: 59,155,651 (GRCm39)	K455E	probably damaging	Het
Mrs2	A	G	13: 25,204,221 (GRCm39)	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,187,357 (GRCm39)	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,021,229 (GRCm39)	Q186L	probably benign	Het
Oas1f	A	G	5: 120,989,538 (GRCm39)	E159G	probably benign	Het
Or2g7	A	T	17: 38,378,412 (GRCm39)	M117L	possibly damaging	Het
Or4k15b	T	A	14: 50,272,252 (GRCm39)	S203C	probably damaging	Het
Or52ae7	T	A	7: 103,119,504 (GRCm39)	F86Y	probably damaging	Het
Or52e19b	T	A	7: 103,032,970 (GRCm39)	I80F	probably damaging	Het
Or52s1b	T	A	7: 102,822,242 (GRCm39)	S201C	probably damaging	Het
Or5m12	A	G	2: 85,734,942 (GRCm39)	F152S	probably benign	Het
Or8g4	T	C	9: 39,662,417 (GRCm39)	I245T	probably damaging	Het
Or9a4	T	A	6: 40,549,154 (GRCm39)	I278N	probably benign	Het
Pcdhga10	A	T	18: 37,881,645 (GRCm39)	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,604,464 (GRCm39)	N788T	probably benign	Het
Pms2	T	A	5: 143,867,909 (GRCm39)	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,586,562 (GRCm39)	V926D	probably damaging	Het
Pros1	A	T	16: 62,748,516 (GRCm39)	H663L	possibly damaging	Het
Prss55	T	C	14: 64,316,138 (GRCm39)		probably null	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad21	A	G	15: 51,828,422 (GRCm39)	S549P	probably benign	Het
Sap130	T	A	18: 31,781,182 (GRCm39)		probably null	Het
Sertad4	C	T	1: 192,529,189 (GRCm39)	S209N	probably benign	Het
Sez6	A	G	11: 77,844,668 (GRCm39)	T164A	probably benign	Het
Slc22a28	C	T	19: 8,078,837 (GRCm39)	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,764,650 (GRCm39)	K474R	probably benign	Het
Stx5a	T	C	19: 8,719,802 (GRCm39)	S56P	probably damaging	Het
Svopl	T	C	6: 37,991,744 (GRCm39)	T379A	probably damaging	Het
Sypl2	A	G	3: 108,125,008 (GRCm39)	F118L	probably damaging	Het
Tfrc	G	A	16: 32,435,967 (GRCm39)	V215M	probably benign	Het
Thnsl2	T	C	6: 71,115,652 (GRCm39)	N185S	probably damaging	Het
Tmem104	T	C	11: 115,134,580 (GRCm39)	I372T	probably damaging	Het
Tnfaip6	G	A	2: 51,941,070 (GRCm39)	G204S	probably damaging	Het
Trim12a	C	T	7: 103,953,335 (GRCm39)	E259K	probably benign	Het
Tubgcp6	G	A	15: 88,986,232 (GRCm39)	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,758,864 (GRCm39)	L246F	probably damaging	Het
Ubr4	G	T	4: 139,145,717 (GRCm39)	V216F		Het
Unc5a	A	G	13: 55,147,319 (GRCm39)	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,235,399 (GRCm39)	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,530,305 (GRCm39)	L157*	probably null	Het
Zcchc24	A	G	14: 25,720,185 (GRCm39)	Y160H	probably damaging	Het
Zfp184	A	T	13: 22,144,376 (GRCm39)	H694L	probably damaging	Het
Zfp345	A	C	2: 150,314,723 (GRCm39)	Y271*	probably null	Het
Zranb3	T	C	1: 128,030,671 (GRCm39)		probably benign	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
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'- GACTGAACTGGTAGAGACTCTGG -3'
(R):5'- CCCTCACTACAGTGGCAAAG -3'

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

Posted On

2020-09-15