Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Pbx1'

522470

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

044620-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

167946933-168259839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 168018964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 294 (N294Y)

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 damaging
Transcript: ENSMUST00000072863
AA Change: N294Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: N294Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176540
AA Change: N294Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: N294Y

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 damaging
Transcript: ENSMUST00000176790
AA Change: N294Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: N294Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188912
AA Change: N294Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: N294Y

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

0.3562

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

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
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Abhd15	T	C	11: 77,406,848 (GRCm39)	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,053,535 (GRCm39)	T27A	probably benign	Het
Ankar	A	G	1: 72,720,967 (GRCm39)		probably null	Het
Ap2a2	T	C	7: 141,182,220 (GRCm39)	V183A	probably benign	Het
Arhgef37	G	A	18: 61,651,123 (GRCm39)	A134V	probably benign	Het
Col3a1	C	A	1: 45,370,694 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,527,926 (GRCm39)	S10P	possibly damaging	Het
Cxcr5	A	G	9: 44,425,276 (GRCm39)	V127A	probably damaging	Het
Eif4b	T	A	15: 102,001,422 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fam83h	T	C	15: 75,873,902 (GRCm39)	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 27,792,963 (GRCm39)	D989G	probably damaging	Het
Fchsd1	T	C	18: 38,100,321 (GRCm39)		probably null	Het
Fcnb	T	C	2: 27,968,301 (GRCm39)	K219E	probably damaging	Het
Fndc7	T	C	3: 108,777,891 (GRCm39)	E355G	probably damaging	Het
Glis3	T	C	19: 28,276,253 (GRCm39)	H746R	probably benign	Het
Glod4	A	G	11: 76,128,611 (GRCm39)	V74A	probably damaging	Het
Gpc6	T	C	14: 118,202,125 (GRCm39)	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,355,946 (GRCm39)	D337G	probably damaging	Het
Hnf1a	T	C	5: 115,094,020 (GRCm39)	T190A	probably benign	Het
Iqgap1	G	C	7: 80,380,074 (GRCm39)	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,244,606 (GRCm39)	F299L	possibly damaging	Het
Kif26b	T	C	1: 178,357,138 (GRCm39)	V4A	unknown	Het
Kifbp	C	A	10: 62,395,437 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,518,903 (GRCm39)	R36S	unknown	Het
Lrpprc	T	C	17: 85,058,781 (GRCm39)	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mga	T	A	2: 119,791,388 (GRCm39)	N2424K	probably damaging	Het
Mgat4f	T	A	1: 134,318,626 (GRCm39)	V466D	probably damaging	Het
Mpdz	G	T	4: 81,205,970 (GRCm39)	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,764,452 (GRCm39)		probably null	Het
Mtus1	G	A	8: 41,494,545 (GRCm39)	S29L	possibly damaging	Het
Myo15a	A	T	11: 60,369,313 (GRCm39)	H691L	possibly damaging	Het
Nbea	T	C	3: 55,625,264 (GRCm39)	T2276A	probably damaging	Het
Npas4	A	G	19: 5,036,011 (GRCm39)	S718P	probably damaging	Het
Ntrk2	T	A	13: 59,009,170 (GRCm39)	N320K	possibly damaging	Het
Nup214	T	A	2: 31,881,384 (GRCm39)	I414N	possibly damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Or52z15	T	C	7: 103,332,285 (GRCm39)	I110T	probably damaging	Het
Or5b118	T	C	19: 13,448,981 (GRCm39)	Y216H	probably damaging	Het
Pabpc6	A	G	17: 9,888,528 (GRCm39)	Y8H	probably damaging	Het
Pcyt1a	T	C	16: 32,285,899 (GRCm39)	M190T	probably damaging	Het
Pogk	T	C	1: 166,226,991 (GRCm39)	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,152,741 (GRCm39)	L294P	probably benign	Het
Pramel51	T	C	12: 88,144,357 (GRCm39)	H152R	possibly damaging	Het
Ptprn2	T	A	12: 116,835,658 (GRCm39)	I331K	probably benign	Het
Ptpro	T	G	6: 137,370,673 (GRCm39)	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,516 (GRCm39)	L1202*	probably null	Het
Rab37	A	G	11: 115,048,789 (GRCm39)	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,508,161 (GRCm39)	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,340,951 (GRCm39)	D148E	probably damaging	Het
Rraga	G	A	4: 86,494,565 (GRCm39)	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,328,329 (GRCm39)	V73A	probably benign	Het
Siglec1	T	C	2: 130,923,227 (GRCm39)	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,862,602 (GRCm39)	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,117,394 (GRCm39)	A110T	probably damaging	Het
Thsd1	T	C	8: 22,733,733 (GRCm39)	V260A	probably benign	Het
Tpbg	T	A	9: 85,726,538 (GRCm39)	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,589,042 (GRCm39)	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,347,135 (GRCm39)	I108T	probably benign	Het
Vmn2r50	T	C	7: 9,771,644 (GRCm39)	I686V	probably damaging	Het
Zdhhc20	C	T	14: 58,078,289 (GRCm39)	R329K	probably benign	Het
Zfp64	A	G	2: 168,777,129 (GRCm39)		probably null	Het
Zfp941	C	T	7: 140,392,663 (GRCm39)	R232H	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
R6302:Pbx1	UTSW	1	168,018,910 (GRCm39)	missense	probably benign
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'- CGATGAGTCAAAACGCATACGC -3'
(R):5'- CCACAGTAGGTAGTTGGTCCTC -3'

Sequencing Primer
(F):5'- TCTCAAAGTAGGGAAAACGAATACAC -3'
(R):5'- ACAGTAGGTAGTTGGTCCTCTTTAAG -3'

Posted On

2018-06-06