Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Pbx1'

268967

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

040669-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168119364-168432270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 168158793 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 411 (P411L)

Ref Sequence

ENSEMBL: ENSMUSP00000135516 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064438
AA Change: P320L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: P320L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097471

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176540
AA Change: P411L

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: P411L

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

probably benign
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

probably benign
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

Meta Mutation Damage Score

0.1501

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
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
R6296:Pbx1	UTSW	1	168183615	missense	possibly damaging	0.71
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

Predicted Primers

PCR Primer
(F):5'- CTGATTGCTTCGACCTCCAG -3'
(R):5'- TCCAAAGGCTCTCTGGAAAATG -3'

Sequencing Primer
(F):5'- TCGACCTCCAGTCTGACCG -3'
(R):5'- GGCTCTCTGGAAAATGAACTCATCTG -3'

Posted On

2015-02-19