Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Pbx1'

211667

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

039913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167946933-168259839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 168030979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 213 (M213K)

Ref Sequence

ENSEMBL: ENSMUSP00000140606 (fasta)

Gene Model

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

AlphaFold

P41778

Predicted Effect

probably benign
Transcript: ENSMUST00000064438
AA Change: M213K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: M213K

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: M213K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: M213K

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: M213K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: M213K

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: M213K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: M213K

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: M213K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: M213K

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

0.6122

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,928 (GRCm39)	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,825,725 (GRCm39)	R347Q	probably benign	Het
Abca15	A	T	7: 119,939,776 (GRCm39)	M293L	possibly damaging	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,328,400 (GRCm39)	N772K	probably damaging	Het
Ascc2	T	A	11: 4,622,305 (GRCm39)	L457Q	probably benign	Het
Aspm	T	A	1: 139,407,605 (GRCm39)	I2164N	probably damaging	Het
Cabs1	A	G	5: 88,127,894 (GRCm39)	T182A	probably benign	Het
Carmil1	T	C	13: 24,208,446 (GRCm39)	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 95,640,171 (GRCm39)	T41M	probably damaging	Het
Cimap1c	A	G	9: 56,756,498 (GRCm39)	Y173H	probably benign	Het
Clec2h	T	C	6: 128,647,795 (GRCm39)	V48A	probably benign	Het
Cpb2	G	A	14: 75,493,403 (GRCm39)	V27I	probably benign	Het
Cr2	T	C	1: 194,837,495 (GRCm39)	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,336,807 (GRCm39)	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,183,864 (GRCm39)	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,150,731 (GRCm39)	S336L	possibly damaging	Het
Dnah10	T	C	5: 124,831,381 (GRCm39)	V803A	probably benign	Het
Dnah17	T	A	11: 117,957,794 (GRCm39)	T2745S	probably benign	Het
Ep300	T	A	15: 81,515,847 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,388,762 (GRCm39)	S829P	probably damaging	Het
Fads3	C	A	19: 10,033,868 (GRCm39)	H418N	probably benign	Het
Fat1	T	C	8: 45,476,893 (GRCm39)	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,732,844 (GRCm39)	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,580,669 (GRCm39)	R337H	probably benign	Het
Gbp2	G	T	3: 142,335,933 (GRCm39)		probably benign	Het
Gja10	G	A	4: 32,601,541 (GRCm39)	S281L	probably benign	Het
Gm5422	G	A	10: 31,125,609 (GRCm39)		noncoding transcript	Het
Gmpr	T	A	13: 45,674,423 (GRCm39)	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,724,374 (GRCm39)	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,648,140 (GRCm39)	V111A	probably benign	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hpn	T	A	7: 30,798,773 (GRCm39)	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,850,680 (GRCm39)	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,652,245 (GRCm39)	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,271,898 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,477,642 (GRCm39)		probably null	Het
Lrrn1	A	T	6: 107,545,083 (GRCm39)	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,904,567 (GRCm39)	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,040,717 (GRCm39)	V579E	probably benign	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mdga1	A	T	17: 30,068,200 (GRCm39)	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,024,993 (GRCm39)		probably null	Het
Mnx1	C	T	5: 29,682,828 (GRCm39)	G149D	unknown	Het
Mtbp	T	A	15: 55,421,064 (GRCm39)	S17T	probably benign	Het
Neu3	T	C	7: 99,472,627 (GRCm39)	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,792 (GRCm39)		probably null	Het
Or10al2	A	T	17: 37,983,747 (GRCm39)	K278*	probably null	Het
Or10g6	A	T	9: 39,934,270 (GRCm39)	I194F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,734 (GRCm39)	N43S	probably damaging	Het
Or9s18	T	A	13: 65,300,806 (GRCm39)	M256K	possibly damaging	Het
Osr2	A	G	15: 35,300,608 (GRCm39)	T55A	possibly damaging	Het
Palld	A	G	8: 61,969,655 (GRCm39)	V981A	probably damaging	Het
Pcdhb12	C	A	18: 37,570,136 (GRCm39)	H427Q	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Phaf1	G	T	8: 105,973,133 (GRCm39)	V248F	probably damaging	Het
Polm	T	C	11: 5,785,574 (GRCm39)	T162A	possibly damaging	Het
Prox1	A	G	1: 189,892,715 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,062,641 (GRCm39)	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rab21	T	C	10: 115,126,805 (GRCm39)	T181A	probably benign	Het
Rab38	A	T	7: 88,139,924 (GRCm39)	T198S	probably benign	Het
Rnase4	C	G	14: 51,342,395 (GRCm39)	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,307,274 (GRCm39)	W645R	probably damaging	Het
Rnf8	A	G	17: 29,840,524 (GRCm39)	I51M	probably damaging	Het
Sbpl	T	A	17: 24,172,241 (GRCm39)	D226V	unknown	Het
Sdf4	T	G	4: 156,085,205 (GRCm39)	I180S	probably benign	Het
Simc1	A	G	13: 54,687,528 (GRCm39)	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,837,398 (GRCm39)	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,780,342 (GRCm39)		probably null	Het
Slco5a1	C	A	1: 12,964,696 (GRCm39)	C527F	probably damaging	Het
Sox6	T	A	7: 115,143,803 (GRCm39)	N405I	probably benign	Het
Sphkap	G	A	1: 83,256,687 (GRCm39)	P354L	probably benign	Het
Spi1	A	G	2: 90,944,702 (GRCm39)	D149G	probably benign	Het
Sptan1	T	A	2: 29,910,472 (GRCm39)	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Sult2a6	T	C	7: 13,959,814 (GRCm39)	T240A	probably benign	Het
Tacc2	A	G	7: 130,227,055 (GRCm39)	S1247G	probably benign	Het
Taf4	T	C	2: 179,574,823 (GRCm39)	D594G	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Ticam1	T	C	17: 56,578,894 (GRCm39)	N67S	probably benign	Het
Tlr6	A	G	5: 65,110,556 (GRCm39)	F784L	probably damaging	Het
Tmprss15	A	G	16: 78,868,306 (GRCm39)	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,259,193 (GRCm39)	V82A	probably benign	Het
Ube2o	C	T	11: 116,439,661 (GRCm39)	V170I	possibly damaging	Het
Ube2q2l	A	G	6: 136,378,825 (GRCm39)	S2P	possibly damaging	Het
Vmn1r177	G	A	7: 23,565,573 (GRCm39)	T101I	probably benign	Het
Vmn2r68	A	T	7: 84,883,867 (GRCm39)	Y79*	probably null	Het
Wdr35	A	C	12: 9,035,994 (GRCm39)	Y255S	probably benign	Het
Zfp507	A	T	7: 35,502,052 (GRCm39)		probably benign	Het
Zfp688	G	A	7: 127,018,409 (GRCm39)	R239C	probably damaging	Het
Zfp74	T	A	7: 29,635,470 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,069 (GRCm39)	N223D	possibly damaging	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
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
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

PCR Primer
(F):5'- GTGTTTCTCGGACCTTAGACC -3'
(R):5'- AGCCAGATATTTCAGTTCACCCC -3'

Sequencing Primer
(F):5'- TTAGACCTTCACACAAGCTAGTG -3'
(R):5'- CATGTTTACCGTGTTACCACTGCAG -3'

Posted On

2014-06-30