Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Pbx1'

65817

Institutional Source

Beutler Lab

Gene Symbol

Pbx1

Ensembl Gene

ENSMUSG00000052534

Gene Name

pre B cell leukemia homeobox 1

Synonyms

Pbx1a, Pbx1b, 2310056B04Rik, Pbx-1, D230003C07Rik

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0240 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

167946933-168259839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 168031051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 189 (T189I)

Ref Sequence

ENSEMBL: ENSMUSP00000140606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064438] [ENSMUST00000072863] [ENSMUST00000176540] [ENSMUST00000176790] [ENSMUST00000188912]

AlphaFold

P41778

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064438
AA Change: T189I

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: T189I

Domain	Start	End	E-Value	Type
Pfam:PBC	35	232	2e-106	PFAM
HOX	233	290	5.15e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072863
AA Change: T189I

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: T189I

Domain	Start	End	E-Value	Type
Pfam:PBC	35	232	2.1e-106	PFAM
HOX	233	298	6.17e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176482

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176540
AA Change: T189I

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: T189I

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:PBC	40	232	6.9e-98	PFAM
HOX	233	298	6.17e-18	SMART
low complexity region	323	344	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176790
AA Change: T189I

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: T189I

Domain	Start	End	E-Value	Type
Pfam:PBC	35	232	2.1e-106	PFAM
HOX	233	298	6.17e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188912
AA Change: T189I

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: T189I

Domain	Start	End	E-Value	Type
Pfam:PBC	35	232	2.1e-106	PFAM
HOX	233	298	6.17e-18	SMART

Meta Mutation Damage Score

0.2129

Coding Region Coverage

1x: 98.7%
3x: 97.3%
10x: 91.2%
20x: 69.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a homeobox protein that belongs to the three-amino-acid loop extension/Pre-B cell leukemia transcription factor (TALE/PBX) family of proteins. The encoded protein is involved in several biological processes during embryogenesis including steroidogenesis, sexual development and the maintenance of hematopoietic stem cells. This protein functions in the development of several organ systems and plays a role in skeletal patterning and programming. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous disruption of this gene causes late gestational death, hypoplasia/aplasia of many organs, impaired hematopoiesis, anemia, skin edema, axial and appendicular skeleton defects, absent adrenal glands, abnormal chondrocyte differentiation, and abnormal bone, kidney and pancreas development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Atp7a	T	A	X: 105,153,447 (GRCm39)	N1117K	probably damaging	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Ganab	A	G	19: 8,890,177 (GRCm39)	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kcnh1	T	A	1: 192,187,648 (GRCm39)	I703N	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 165,896,320 (GRCm39)	T408A	probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Stk25	A	T	1: 93,554,782 (GRCm39)	L131Q	probably damaging	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	probably benign	Het

Other mutations in Pbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Pbx1	APN	1	168,018,873 (GRCm39)	missense	probably benign	0.00
IGL02256:Pbx1	APN	1	168,011,171 (GRCm39)	missense	possibly damaging	0.88
IGL03040:Pbx1	APN	1	168,255,515 (GRCm39)	splice site	probably benign
root_cause	UTSW	1	168,037,103 (GRCm39)	missense	probably damaging	1.00
R0240:Pbx1	UTSW	1	168,031,051 (GRCm39)	missense	possibly damaging	0.88
R0947:Pbx1	UTSW	1	168,030,935 (GRCm39)	missense	probably damaging	1.00
R1785:Pbx1	UTSW	1	168,258,947 (GRCm39)	missense	probably benign	0.09
R1893:Pbx1	UTSW	1	168,030,979 (GRCm39)	missense	possibly damaging	0.91
R3552:Pbx1	UTSW	1	167,986,362 (GRCm39)	missense	possibly damaging	0.88
R4176:Pbx1	UTSW	1	168,018,841 (GRCm39)	splice site	probably null
R4757:Pbx1	UTSW	1	168,023,450 (GRCm39)	missense	probably damaging	1.00
R5024:Pbx1	UTSW	1	168,011,158 (GRCm39)	missense	possibly damaging	0.93
R6102:Pbx1	UTSW	1	168,011,134 (GRCm39)	missense	probably benign	0.05
R6296:Pbx1	UTSW	1	168,011,184 (GRCm39)	missense	possibly damaging	0.71
R6302:Pbx1	UTSW	1	168,018,910 (GRCm39)	missense	probably benign
R6488:Pbx1	UTSW	1	168,018,964 (GRCm39)	missense	probably damaging	1.00
R6501:Pbx1	UTSW	1	168,037,103 (GRCm39)	missense	probably damaging	1.00
R7014:Pbx1	UTSW	1	168,258,949 (GRCm39)	missense	probably damaging	0.98
R7070:Pbx1	UTSW	1	168,023,337 (GRCm39)	missense	probably damaging	0.98
R7677:Pbx1	UTSW	1	168,030,995 (GRCm39)	missense	probably damaging	0.99
R7898:Pbx1	UTSW	1	168,012,616 (GRCm39)	missense	probably benign	0.12
R9374:Pbx1	UTSW	1	168,258,910 (GRCm39)	missense	possibly damaging	0.91
R9551:Pbx1	UTSW	1	168,258,910 (GRCm39)	missense	possibly damaging	0.91
R9552:Pbx1	UTSW	1	168,258,910 (GRCm39)	missense	possibly damaging	0.91
X0024:Pbx1	UTSW	1	168,258,934 (GRCm39)	nonsense	probably null
X0027:Pbx1	UTSW	1	168,011,181 (GRCm39)	missense	possibly damaging	0.81
Z1189:Pbx1	UTSW	1	168,012,524 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2013-08-19