Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Pbx1'

508743

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

044407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167946933-168259839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168011184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 372 (D372G)

Ref Sequence

ENSEMBL: ENSMUSP00000135516 (fasta)

Gene Model

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

AlphaFold

P41778

Predicted Effect

probably benign
Transcript: ENSMUST00000064438
AA Change: D281G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: D281G

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

Predicted Effect

silent
Transcript: ENSMUST00000072863

SMART Domains

Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534

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: ENSMUST00000176540
AA Change: D372G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: D372G

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

silent
Transcript: ENSMUST00000176790

SMART Domains

Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534

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

Predicted Effect

silent
Transcript: ENSMUST00000188912

SMART Domains

Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Adcy5	A	G	16: 35,124,080 (GRCm39)	Y1253C	probably damaging	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Adm	A	G	7: 110,227,561 (GRCm39)	T26A	probably benign	Het
Ahnak	T	G	19: 8,980,669 (GRCm39)	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,045,532 (GRCm39)	V358I	probably benign	Het
Ankar	T	G	1: 72,682,417 (GRCm39)	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,602,053 (GRCm39)	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Cfap54	T	C	10: 92,902,708 (GRCm39)	Y148C	probably damaging	Het
Coa5	A	G	1: 37,467,428 (GRCm39)	S60P	probably damaging	Het
Col6a2	T	C	10: 76,446,883 (GRCm39)	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,318,705 (GRCm39)	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Epn1	G	A	7: 5,093,122 (GRCm39)	A145T	probably damaging	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Gm6358	T	C	16: 88,937,970 (GRCm39)	S70P	unknown	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hsfy2	T	A	1: 56,676,351 (GRCm39)	H62L	probably benign	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,212,783 (GRCm39)		noncoding transcript	Het
Inava	C	T	1: 136,148,809 (GRCm39)		probably null	Het
Irx1	A	C	13: 72,107,787 (GRCm39)	S298R	probably damaging	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,084,740 (GRCm39)	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lipo3	T	C	19: 33,757,737 (GRCm39)	D244G	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Macf1	A	T	4: 123,326,668 (GRCm39)	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or5ac25	T	C	16: 59,181,769 (GRCm39)	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pikfyve	T	A	1: 65,302,112 (GRCm39)	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499 (GRCm39)	H231N	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,222,894 (GRCm39)	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,614 (GRCm39)	I332N	probably damaging	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rnf214	A	G	9: 45,779,119 (GRCm39)	S389P	probably benign	Het
Rxfp1	A	C	3: 79,575,155 (GRCm39)	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,073,211 (GRCm39)	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stard13	A	T	5: 150,986,138 (GRCm39)	S339R	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Supt6	C	T	11: 78,116,885 (GRCm39)	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,904,217 (GRCm39)	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,289,349 (GRCm39)	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,108,103 (GRCm39)	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,719,331 (GRCm39)	L1985R	unknown	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572 (GRCm39)	Q215K	probably benign	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,286,793 (GRCm39)	T466A	probably benign	Het
Zfp451	T	A	1: 33,808,898 (GRCm39)	K988*	probably null	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	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
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
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'- ACTAAGTGGCATTCTGGGC -3'
(R):5'- TGCAGTCTGTCTCAGTTTCAAG -3'

Sequencing Primer
(F):5'- CCCTGTGGCTTTGAAATAATTGACAG -3'
(R):5'- CTCATAAGTGACAATGGATTTGCC -3'

Posted On

2018-04-02