Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02612:Pbxip1'

300528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pbxip1

Ensembl Gene

ENSMUSG00000042613

Gene Name

pre B cell leukemia transcription factor interacting protein 1

Synonyms

4732463H20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02612

Quality Score

Status

Chromosome

Chromosomal Location

89344013-89358259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89350988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 117 (T117M)

Ref Sequence

ENSEMBL: ENSMUSP00000118496 (fasta)

Gene Model

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

AlphaFold

Q3TVI8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038942
AA Change: T110M

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: T110M

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 damaging
Transcript: ENSMUST00000130858
AA Change: T117M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613
AA Change: T117M

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

possibly damaging
Transcript: ENSMUST00000145753
AA Change: T110M

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121658
Gene: ENSMUSG00000042613
AA Change: T110M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146630
AA Change: T117M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,971 (GRCm39)	M1432L	probably benign	Het
Alg11	A	G	8: 22,551,999 (GRCm39)	R48G	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Bmp4	T	A	14: 46,621,938 (GRCm39)	D202V	probably damaging	Het
Car12	T	G	9: 66,669,706 (GRCm39)	L300R	probably damaging	Het
Cdc37l1	T	A	19: 28,993,502 (GRCm39)	*336R	probably null	Het
Cep89	A	G	7: 35,124,080 (GRCm39)		probably null	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,445,033 (GRCm39)	D338G	probably damaging	Het
Crot	A	G	5: 9,019,945 (GRCm39)	C466R	probably damaging	Het
Dach2	T	C	X: 112,660,101 (GRCm39)	M194T	probably benign	Het
Dmrtc1b	A	G	X: 101,756,873 (GRCm39)	D100G	probably benign	Het
Epm2a	G	A	10: 11,332,980 (GRCm39)	R271H	probably damaging	Het
Fem1c	G	T	18: 46,638,781 (GRCm39)	T407K	probably benign	Het
Fer1l4	T	C	2: 155,889,848 (GRCm39)	Y273C	probably damaging	Het
Foxc2	C	A	8: 121,844,576 (GRCm39)	A408E	probably benign	Het
Gbp10	A	T	5: 105,366,368 (GRCm39)	M512K	possibly damaging	Het
Gm5134	T	C	10: 75,828,323 (GRCm39)	L301P	probably damaging	Het
Grk3	A	T	5: 113,117,100 (GRCm39)	D100E	probably benign	Het
Gsdma3	T	A	11: 98,526,707 (GRCm39)	D322E	probably damaging	Het
Gucy1a2	C	A	9: 3,894,556 (GRCm39)	L680I	possibly damaging	Het
Ighv7-2	T	C	12: 113,875,766 (GRCm39)	Y79C	probably damaging	Het
Igkv4-50	T	C	6: 69,678,024 (GRCm39)	T27A	probably benign	Het
Ints2	T	C	11: 86,106,404 (GRCm39)	D1002G	probably damaging	Het
Map4k5	T	A	12: 69,896,358 (GRCm39)	I169F	possibly damaging	Het
Mink1	T	C	11: 70,488,052 (GRCm39)	V39A	probably damaging	Het
Mms22l	T	A	4: 24,508,482 (GRCm39)	H301Q	probably benign	Het
Myh4	C	T	11: 67,147,305 (GRCm39)	T1650I	probably benign	Het
Or52n4	A	T	7: 104,293,870 (GRCm39)	D234E	probably benign	Het
Or8b37	T	A	9: 37,958,662 (GRCm39)	L48Q	probably damaging	Het
Or8b44	T	C	9: 38,410,769 (GRCm39)	M268T	probably benign	Het
Pate10	T	C	9: 35,653,460 (GRCm39)	I88T	possibly damaging	Het
Pgghg	C	T	7: 140,526,251 (GRCm39)	T572M	probably damaging	Het
Phactr2	G	A	10: 13,121,167 (GRCm39)	T511I	probably damaging	Het
Pip5k1a	T	C	3: 94,974,724 (GRCm39)	I385V	probably benign	Het
Pwp2	A	G	10: 78,018,828 (GRCm39)	C60R	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rttn	G	T	18: 88,991,750 (GRCm39)	D110Y	probably damaging	Het
Setbp1	G	T	18: 78,798,925 (GRCm39)	H1418Q	probably damaging	Het
Sf3b3	T	C	8: 111,569,608 (GRCm39)	I37V	probably benign	Het
Slc27a6	A	T	18: 58,689,977 (GRCm39)	I148F	probably benign	Het
Slmap	A	G	14: 26,180,621 (GRCm39)		probably benign	Het
Speer4a3	A	C	5: 26,156,614 (GRCm39)	Y122D	probably benign	Het
Stil	A	G	4: 114,880,893 (GRCm39)	Q479R	possibly damaging	Het
Svop	A	G	5: 114,166,321 (GRCm39)	*549Q	probably null	Het
Tnks	C	T	8: 35,316,453 (GRCm39)	V889I	possibly damaging	Het
Tnrc6c	T	A	11: 117,633,826 (GRCm39)	V1308E	possibly damaging	Het
Vmn1r208	C	A	13: 22,956,993 (GRCm39)	C168F	probably damaging	Het
Vmn2r117	A	T	17: 23,678,758 (GRCm39)	M822K	possibly damaging	Het
Vwa8	A	G	14: 79,420,552 (GRCm39)	N1751S	probably benign	Het
Vwde	A	T	6: 13,187,148 (GRCm39)	F780I	probably damaging	Het
Washc2	T	C	6: 116,197,577 (GRCm39)	I184T	possibly damaging	Het
Wdr26	A	T	1: 181,005,361 (GRCm39)		probably benign	Het
Zfp608	G	A	18: 55,031,273 (GRCm39)	T889M	probably damaging	Het
Zfp955a	G	T	17: 33,463,039 (GRCm39)	Q31K	probably damaging	Het
Zpbp2	T	C	11: 98,446,343 (GRCm39)	L145S	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
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
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

Posted On

2015-04-16