Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01588:Pbx2'

91516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pbx2

Ensembl Gene

ENSMUSG00000034673

Gene Name

pre B cell leukemia homeobox 2

Synonyms

G17

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01588

Quality Score

Status

Chromosome

Chromosomal Location

34811233-34816374 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34814592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000038149] [ENSMUST00000038244] [ENSMUST00000150924] [ENSMUST00000173328] [ENSMUST00000183827] [ENSMUST00000173992] [ENSMUST00000174532] [ENSMUST00000174496] [ENSMUST00000173772] [ENSMUST00000174069]

AlphaFold

O35984

Predicted Effect

probably benign
Transcript: ENSMUST00000015596

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	4.3e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038149

SMART Domains

Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
low complexity region	7	49	N/A	INTRINSIC
Pfam:PBC	50	243	1.3e-97	PFAM
HOX	244	309	1.9e-18	SMART
low complexity region	327	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038244

SMART Domains

Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
GoLoco	61	83	2.02e-6	SMART
low complexity region	86	100	N/A	INTRINSIC
GoLoco	103	125	2.42e-4	SMART
GoLoco	131	154	4.05e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172932

SMART Domains

Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173328

SMART Domains

Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	161	5e-84	PFAM
HOX	162	227	1.9e-18	SMART
low complexity region	245	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183827

SMART Domains

Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	183	9.5e-98	PFAM
HOX	184	249	1.9e-18	SMART
low complexity region	267	293	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173589

SMART Domains

Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

probably benign
Transcript: ENSMUST00000173992

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	108	3.23e-7	SMART
Pfam:C2-set_2	114	208	3.3e-24	PFAM
IGc2	239	297	7.63e-18	SMART
transmembrane domain	321	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174532

SMART Domains

Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	148	3.5e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174496

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	3.4e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	330	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173772

SMART Domains

Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786

Domain	Start	End	E-Value	Type
GoLoco	27	50	4.05e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174069

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	2.5e-24	PFAM
IGc2	248	306	7.63e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	A	1: 139,405,900 (GRCm39)	S1596T	probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Csn2	T	C	5: 87,842,508 (GRCm39)	H165R	probably benign	Het
Dido1	A	G	2: 180,330,668 (GRCm39)	V260A	probably benign	Het
Ece1	C	T	4: 137,684,517 (GRCm39)		probably benign	Het
Garem1	T	G	18: 21,262,854 (GRCm39)	R653S	probably damaging	Het
Gpatch2	A	T	1: 186,962,991 (GRCm39)	S261C	probably damaging	Het
Ing4	A	G	6: 125,020,949 (GRCm39)	N24D	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,257 (GRCm39)	V230D	probably damaging	Het
Ly96	G	A	1: 16,779,678 (GRCm39)	V116I	probably benign	Het
Myom1	C	T	17: 71,424,432 (GRCm39)	T1427M	possibly damaging	Het
Nedd1	C	A	10: 92,522,124 (GRCm39)	V638L	probably benign	Het
Or52d3	C	T	7: 104,229,150 (GRCm39)	S99F	probably damaging	Het
Or5d35	T	C	2: 87,855,417 (GRCm39)	V117A	probably benign	Het
Or8g30	G	A	9: 39,230,128 (GRCm39)	Q261*	probably null	Het
Phlpp1	A	T	1: 106,308,119 (GRCm39)	H1132L	probably damaging	Het
Plpp5	T	A	8: 26,214,195 (GRCm39)	H237Q	probably damaging	Het
Stard13	C	T	5: 150,968,702 (GRCm39)	R856H	probably damaging	Het
Sult1e1	T	C	5: 87,724,102 (GRCm39)	K285R	probably benign	Het
Ubxn8	C	T	8: 34,111,587 (GRCm39)	V269M	probably damaging	Het
Usp29	A	T	7: 6,965,610 (GRCm39)	K484N	probably benign	Het
Whrn	C	T	4: 63,391,015 (GRCm39)	V80M	probably damaging	Het
Znhit6	A	G	3: 145,301,962 (GRCm39)		probably benign	Het

Other mutations in Pbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Pbx2	APN	17	34,813,024 (GRCm39)	missense	probably damaging	1.00
R1748:Pbx2	UTSW	17	34,812,951 (GRCm39)	missense	possibly damaging	0.81
R2182:Pbx2	UTSW	17	34,814,640 (GRCm39)	nonsense	probably null
R4257:Pbx2	UTSW	17	34,813,619 (GRCm39)	missense	probably damaging	1.00
R5011:Pbx2	UTSW	17	34,813,673 (GRCm39)	nonsense	probably null
R6161:Pbx2	UTSW	17	34,812,574 (GRCm39)	missense	probably damaging	1.00
R6888:Pbx2	UTSW	17	34,813,081 (GRCm39)	missense	possibly damaging	0.75
R8047:Pbx2	UTSW	17	34,814,262 (GRCm39)	missense	probably benign	0.00
R8315:Pbx2	UTSW	17	34,811,707 (GRCm39)	missense	probably damaging	0.99
R8930:Pbx2	UTSW	17	34,813,563 (GRCm39)	missense	probably damaging	1.00
R8932:Pbx2	UTSW	17	34,813,563 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09