Mutagenetix > Incidental Mutations

Incidental Mutation 'R6296:Pbx1'

508743

Institutional Source

Beutler Lab

Gene Symbol

Pbx1

Ensembl Gene

ENSMUSG00000052534

Gene Name

pre B cell leukemia homeobox 1

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

168119364-168432270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168183615 bp

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]

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
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
5730559C18Rik	C	T	1: 136,221,071		probably null	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Adcy5	A	G	16: 35,303,710	Y1253C	probably damaging	Het
Adgra3	G	A	5: 49,960,847	P1120S	probably benign	Het
Adm	A	G	7: 110,628,354	T26A	probably benign	Het
Ahnak	T	G	19: 9,003,305	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,318,221	V358I	probably benign	Het
Ankar	T	G	1: 72,643,258	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,383,079	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Cfap54	T	C	10: 93,066,846	Y148C	probably damaging	Het
Coa5	A	G	1: 37,428,347	S60P	probably damaging	Het
Col6a2	T	C	10: 76,611,049	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,330,261	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,150,729		probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Epn1	G	A	7: 5,090,123	A145T	probably damaging	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Gm6358	T	C	16: 89,141,082	S70P	unknown	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hsfy2	T	A	1: 56,637,192	H62L	probably benign	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,235,799		noncoding transcript	Het
Irx1	A	C	13: 71,959,668	S298R	probably damaging	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,435,316	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lipo1	T	C	19: 33,780,337	D244G	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557	A369T	probably damaging	Homo
Macf1	A	T	4: 123,432,875	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr209	T	C	16: 59,361,406	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,819,503		probably null	Het
Pikfyve	T	A	1: 65,262,953	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499	H231N	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,393,826	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rassf9	T	A	10: 102,545,753	I332N	probably damaging	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rhbdl1	A	G	17: 25,834,969	L309P	probably damaging	Het
Rnf214	A	G	9: 45,867,821	S389P	probably benign	Het
Rxfp1	A	C	3: 79,667,848	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,145,489	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stard13	A	T	5: 151,062,673	S339R	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Supt6	C	T	11: 78,226,059	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,996,935	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,361,611	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,223,902	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,733,576	L1985R	unknown	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572	Q215K	probably benign	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,216,570	T466A	probably benign	Het
Zfp451	T	A	1: 33,769,817	K988*	probably null	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	possibly damaging	Het

Other mutations in Pbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Pbx1	APN	1	168191304	missense	probably benign	0.00
IGL02256:Pbx1	APN	1	168183602	missense	possibly damaging	0.88
IGL03040:Pbx1	APN	1	168427946	splice site	probably benign
root_cause	UTSW	1	168209534	missense	probably damaging	1.00
R0240:Pbx1	UTSW	1	168203482	missense	possibly damaging	0.88
R0240:Pbx1	UTSW	1	168203482	missense	possibly damaging	0.88
R0947:Pbx1	UTSW	1	168203366	missense	probably damaging	1.00
R1785:Pbx1	UTSW	1	168431378	missense	probably benign	0.09
R1893:Pbx1	UTSW	1	168203410	missense	possibly damaging	0.91
R3552:Pbx1	UTSW	1	168158793	missense	possibly damaging	0.88
R4176:Pbx1	UTSW	1	168191272	splice site	probably null
R4757:Pbx1	UTSW	1	168195881	missense	probably damaging	1.00
R5024:Pbx1	UTSW	1	168183589	missense	possibly damaging	0.93
R6102:Pbx1	UTSW	1	168183565	missense	probably benign	0.05
R6302:Pbx1	UTSW	1	168191341	missense	probably benign
R6488:Pbx1	UTSW	1	168191395	missense	probably damaging	1.00
R6501:Pbx1	UTSW	1	168209534	missense	probably damaging	1.00
R7014:Pbx1	UTSW	1	168431380	missense	probably damaging	0.98
R7070:Pbx1	UTSW	1	168195768	missense	probably damaging	0.98
R7677:Pbx1	UTSW	1	168203426	missense	probably damaging	0.99
R7898:Pbx1	UTSW	1	168185047	missense	probably benign	0.12
X0024:Pbx1	UTSW	1	168431365	nonsense	probably null
X0027:Pbx1	UTSW	1	168183612	missense	possibly damaging	0.81
Z1189:Pbx1	UTSW	1	168184955	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