Mutagenetix > Incidental Mutation

Incidental Mutation 'R6302:Pbx1'

509258

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

044467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6302 (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 A at 168018910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 312 (T312S)

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

SMART Domains

Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072863
AA Change: T312S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: T312S

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: ENSMUST00000176540
AA Change: T312S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: T312S

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
AA Change: T312S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: T312S

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
AA Change: T312S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: T312S

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	T	4: 144,396,760 (GRCm39)	S324*	probably null	Het
Actl11	T	G	9: 107,806,772 (GRCm39)	V365G	probably benign	Het
Adgrg6	T	A	10: 14,317,227 (GRCm39)	D531V	probably benign	Het
Ankrd11	A	G	8: 123,616,728 (GRCm39)	S2354P	probably benign	Het
Ano9	A	T	7: 140,684,221 (GRCm39)	W514R	probably damaging	Het
Arfgef3	A	T	10: 18,528,589 (GRCm39)	V266E	probably damaging	Het
Bahcc1	T	C	11: 120,167,634 (GRCm39)	I1345T	probably damaging	Het
Bpifb4	G	A	2: 153,801,587 (GRCm39)	M355I	probably benign	Het
Catsperb	T	C	12: 101,554,402 (GRCm39)	S699P	possibly damaging	Het
Cdh23	T	G	10: 60,140,872 (GRCm39)	I3161L	possibly damaging	Het
Chd3	T	C	11: 69,244,604 (GRCm39)	T1257A	probably damaging	Het
Cnnm4	C	T	1: 36,539,036 (GRCm39)	T638I	probably benign	Het
Cspg4b	A	G	13: 113,504,646 (GRCm39)	D1925G	probably damaging	Het
Cyp26c1	A	G	19: 37,674,936 (GRCm39)	T86A	probably damaging	Het
Cyp3a63-ps	A	G	5: 145,564,847 (GRCm39)		noncoding transcript	Het
Dnah14	T	A	1: 181,428,771 (GRCm39)	I259N	possibly damaging	Het
Dnah17	T	C	11: 118,019,981 (GRCm39)	D22G	probably benign	Het
Epn2	T	G	11: 61,437,312 (GRCm39)	T87P	probably damaging	Het
Fbxl18	A	G	5: 142,874,578 (GRCm39)	L81P	probably damaging	Het
Gas1	A	T	13: 60,323,970 (GRCm39)	D221E	probably damaging	Het
Gm8356	T	C	14: 17,691,275 (GRCm39)	Y130C	probably damaging	Het
Gpr151	T	G	18: 42,712,459 (GRCm39)	K73T	probably damaging	Het
Helq	A	C	5: 100,946,305 (GRCm39)	V12G	probably damaging	Het
Inpp4b	A	G	8: 82,494,806 (GRCm39)	T74A	probably benign	Het
Kirrel3	G	A	9: 34,919,045 (GRCm39)	V234I	probably damaging	Het
Kxd1	T	A	8: 70,972,713 (GRCm39)		probably null	Het
Lif	T	C	11: 4,218,924 (GRCm39)	Y68H	probably damaging	Het
Map6	A	G	7: 98,985,314 (GRCm39)	Q406R	probably damaging	Het
Mcoln3	A	T	3: 145,830,527 (GRCm39)	M86L	probably benign	Het
Mei1	T	A	15: 81,987,439 (GRCm39)	Y834*	probably null	Het
Mroh1	T	C	15: 76,320,319 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,777,065 (GRCm39)	I2319T	possibly damaging	Het
Myo7b	T	G	18: 32,127,439 (GRCm39)	D621A	probably damaging	Het
Naip5	C	T	13: 100,359,674 (GRCm39)	A521T	possibly damaging	Het
Nek7	T	C	1: 138,426,351 (GRCm39)	D254G	probably damaging	Het
Nsd2	A	G	5: 34,024,921 (GRCm39)	R560G	possibly damaging	Het
Or2t46	T	C	11: 58,472,464 (GRCm39)	F265L	probably benign	Het
Or52x1	A	T	7: 104,852,926 (GRCm39)	L208H	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,610,097 (GRCm39)	S390G	probably damaging	Het
Plcxd3	C	T	15: 4,546,239 (GRCm39)	T81M	probably damaging	Het
Pmf1	C	T	3: 88,307,017 (GRCm39)		probably null	Het
Rabep1	T	C	11: 70,825,947 (GRCm39)	V739A	probably damaging	Het
Rex2	A	G	4: 147,142,451 (GRCm39)	D313G	possibly damaging	Het
Rpia	C	T	6: 70,750,485 (GRCm39)	V216I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec13	T	A	6: 113,712,167 (GRCm39)	H56L	probably damaging	Het
Sec16a	A	T	2: 26,315,817 (GRCm39)	V1733D	probably damaging	Het
Sim2	G	A	16: 93,898,089 (GRCm39)	A108T	probably damaging	Het
Slc27a5	T	C	7: 12,722,479 (GRCm39)	D665G	probably damaging	Het
Slc38a6	T	A	12: 73,383,849 (GRCm39)	V180E	probably damaging	Het
Smarcad1	T	G	6: 65,052,122 (GRCm39)	N38K	possibly damaging	Het
Spem2	T	C	11: 69,709,091 (GRCm39)	T45A	possibly damaging	Het
Svil	T	C	18: 5,057,432 (GRCm39)	S714P	probably benign	Het
Taar7b	T	A	10: 23,876,158 (GRCm39)	S108T	possibly damaging	Het
Tbl3	T	C	17: 24,923,645 (GRCm39)	K256E	probably benign	Het
Tcam1	T	G	11: 106,177,276 (GRCm39)	C423G	probably damaging	Het
Trpm4	A	T	7: 44,977,143 (GRCm39)		probably null	Het
Ttyh2	T	C	11: 114,592,662 (GRCm39)	C231R	probably damaging	Het
Ugt3a1	C	T	15: 9,365,397 (GRCm39)	P337S	probably damaging	Het
Vmn2r83	A	C	10: 79,304,837 (GRCm39)	T16P	possibly damaging	Het
Vps52	T	C	17: 34,182,189 (GRCm39)	F589S	probably damaging	Het
Xkr4	T	C	1: 3,286,961 (GRCm39)	T410A	probably damaging	Het
Xkr9	A	G	1: 13,742,726 (GRCm39)	T4A	probably damaging	Het
Yars2	T	C	16: 16,122,438 (GRCm39)	L268P	probably damaging	Het
Zbtb41	C	A	1: 139,357,027 (GRCm39)	N427K	possibly damaging	Het
Zeb2	T	C	2: 44,887,771 (GRCm39)	T414A	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
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
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'- GCAGTATAAATCGATGAGTCAAAACGC -3'
(R):5'- TACTTTTGCTTCCTCGAGGG -3'

Sequencing Primer
(F):5'- TCGATGAGTCAAAACGCATACG -3'
(R):5'- GGGTGAGATCACACTATCCTG -3'

Posted On

2018-04-02