Mutagenetix > Incidental Mutation

Incidental Mutation 'R1526:Pbx3'

167413

Institutional Source

Beutler Lab

Gene Symbol

Pbx3

Ensembl Gene

ENSMUSG00000038718

Gene Name

pre B cell leukemia homeobox 3

Synonyms

MMRRC Submission

039566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1526 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

34061469-34262375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34261776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 53 (I53V)

Ref Sequence

ENSEMBL: ENSMUSP00000123567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040638] [ENSMUST00000113132] [ENSMUST00000127353] [ENSMUST00000138021] [ENSMUST00000141653] [ENSMUST00000143776] [ENSMUST00000153278]

AlphaFold

O35317

Predicted Effect

probably benign
Transcript: ENSMUST00000040638
AA Change: I53V

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: I53V

Domain	Start	End	E-Value	Type
Pfam:PBC	43	234	2.7e-97	PFAM
HOX	235	300	1.74e-17	SMART
low complexity region	308	341	N/A	INTRINSIC
Blast:HOX	342	385	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113132
AA Change: I53V

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: I53V

Domain	Start	End	E-Value	Type
Pfam:PBC	38	234	8.5e-103	PFAM
HOX	235	300	8.8e-20	SMART
low complexity region	308	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127353

SMART Domains

Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718

Domain	Start	End	E-Value	Type
Pfam:PBC	1	54	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138021

SMART Domains

Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718

Domain	Start	End	E-Value	Type
Pfam:PBC	3	128	3.7e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141653

SMART Domains

Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718

Domain	Start	End	E-Value	Type
Pfam:PBC	1	96	6.7e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143776
AA Change: I53V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718
AA Change: I53V

Domain	Start	End	E-Value	Type
Pfam:PBC	38	93	4.9e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153278
AA Change: I53V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718
AA Change: I53V

Domain	Start	End	E-Value	Type
Pfam:PBC	38	93	4.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155423

Predicted Effect

probably benign
Transcript: ENSMUST00000175855

SMART Domains

Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718

Domain	Start	End	E-Value	Type
Pfam:PBC	1	53	1.6e-27	PFAM
HOX	54	119	8.8e-20	SMART
low complexity region	127	155	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display neonatal lethality with hypoventilation and respiratory failure. [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
Asap2	G	T	12: 21,235,188 (GRCm39)	A97S	probably damaging	Het
Brd10	T	C	19: 29,712,545 (GRCm39)	K785E	probably damaging	Het
C1qtnf1	A	T	11: 118,334,616 (GRCm39)	E32V	possibly damaging	Het
Ccdc81	A	G	7: 89,525,081 (GRCm39)	L500P	probably damaging	Het
Cdo1	T	C	18: 46,861,130 (GRCm39)	E27G	probably benign	Het
Ceacam5	G	A	7: 17,484,620 (GRCm39)	G454D	probably damaging	Het
Cemip	T	C	7: 83,600,648 (GRCm39)	D991G	probably damaging	Het
Cep170	A	C	1: 176,616,071 (GRCm39)	I79S	probably damaging	Het
Cep19	A	G	16: 31,926,039 (GRCm39)	Q149R	possibly damaging	Het
Cideb	A	T	14: 55,992,619 (GRCm39)	L99*	probably null	Het
Cntnap5a	A	G	1: 116,356,207 (GRCm39)	N746S	probably benign	Het
Col12a1	T	C	9: 79,564,080 (GRCm39)	N1715S	probably benign	Het
Col3a1	T	C	1: 45,360,848 (GRCm39)	S93P	unknown	Het
Csmd3	C	A	15: 47,449,028 (GRCm39)		probably null	Het
Disp3	T	C	4: 148,344,373 (GRCm39)	I510V	probably benign	Het
Drosha	T	A	15: 12,914,070 (GRCm39)	V1115E	probably damaging	Het
Dzip3	A	C	16: 48,757,369 (GRCm39)	L888R	probably damaging	Het
Emx2	C	A	19: 59,452,442 (GRCm39)	A242E	probably benign	Het
Fto	G	A	8: 92,168,314 (GRCm39)	E256K	possibly damaging	Het
Gabrb2	A	C	11: 42,482,715 (GRCm39)	Y191S	possibly damaging	Het
Gm6526	A	T	14: 43,987,394 (GRCm39)	H110L	probably damaging	Het
Grin3b	T	A	10: 79,810,436 (GRCm39)	N647K	probably damaging	Het
Ifit2	T	G	19: 34,550,602 (GRCm39)	S47R	probably benign	Het
Il5ra	A	T	6: 106,712,781 (GRCm39)	V244E	possibly damaging	Het
Inppl1	A	G	7: 101,482,153 (GRCm39)	L141P	probably benign	Het
Iws1	A	G	18: 32,213,178 (GRCm39)	D202G	probably benign	Het
Kctd4	A	C	14: 76,200,523 (GRCm39)	I165L	probably benign	Het
Lrch3	G	A	16: 32,770,746 (GRCm39)	C116Y	probably damaging	Het
Mettl25	T	C	10: 105,668,844 (GRCm39)	T93A	possibly damaging	Het
Mgat4d	A	G	8: 84,095,666 (GRCm39)	I314V	probably benign	Het
Mrgprb4	A	T	7: 47,848,159 (GRCm39)	Y256*	probably null	Het
Myo9b	G	T	8: 71,808,408 (GRCm39)	V1672L	probably damaging	Het
Nek1	C	T	8: 61,502,975 (GRCm39)	P449L	probably benign	Het
Nucb2	G	A	7: 116,123,642 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,919,412 (GRCm39)	Y6864C	probably damaging	Het
Omt2b	A	T	9: 78,235,420 (GRCm39)		probably benign	Het
Or2y3	T	A	17: 38,393,486 (GRCm39)	I128F	probably damaging	Het
Or4p18	C	T	2: 88,232,777 (GRCm39)	C167Y	probably damaging	Het
Or5ac15	G	A	16: 58,940,293 (GRCm39)	L47F	probably damaging	Het
Or6c208	A	G	10: 129,224,176 (GRCm39)	K225E	probably benign	Het
Otogl	G	T	10: 107,705,387 (GRCm39)	P647T	probably damaging	Het
Oxnad1	A	G	14: 31,824,244 (GRCm39)	D271G	probably benign	Het
Pds5b	T	A	5: 150,639,865 (GRCm39)		probably null	Het
Ppp4r3a	A	T	12: 101,007,000 (GRCm39)	D810E	probably damaging	Het
Ptpro	A	T	6: 137,438,724 (GRCm39)	D1189V	probably damaging	Het
Ryr3	T	C	2: 112,492,002 (GRCm39)	N3758S	probably damaging	Het
Scarb2	G	A	5: 92,594,200 (GRCm39)	T454M	possibly damaging	Het
Sec23a	A	C	12: 59,032,972 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,095,502 (GRCm39)	A535V	probably benign	Het
Svopl	A	T	6: 38,006,570 (GRCm39)	F142L	probably benign	Het
Tas2r144	T	C	6: 42,192,674 (GRCm39)	I138T	probably benign	Het
Tbc1d15	A	G	10: 115,039,135 (GRCm39)	M535T	probably benign	Het
Tnfaip1	C	T	11: 78,420,971 (GRCm39)	V30M	possibly damaging	Het
Topaz1	T	A	9: 122,625,108 (GRCm39)	W1398R	probably damaging	Het
Tpo	A	G	12: 30,134,694 (GRCm39)	S755P	probably damaging	Het
Ttn	G	T	2: 76,606,460 (GRCm39)	S18116R	probably damaging	Het
Vmn2r78	A	G	7: 86,571,465 (GRCm39)		probably null	Het
Wdr49	T	A	3: 75,304,227 (GRCm39)	K494M	probably benign	Het
Yeats2	A	G	16: 20,024,836 (GRCm39)	M697V	probably damaging	Het
Zfp407	G	A	18: 84,579,158 (GRCm39)	P652S	possibly damaging	Het
Zfp462	A	G	4: 55,009,002 (GRCm39)	M323V	probably benign	Het
Zfp629	G	T	7: 127,209,931 (GRCm39)	P626Q	possibly damaging	Het
Zfp804a	A	T	2: 82,088,532 (GRCm39)	Y787F	probably benign	Het

Other mutations in Pbx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02468:Pbx3	APN	2	34,114,589 (GRCm39)	missense	probably damaging	1.00
IGL02524:Pbx3	APN	2	34,260,830 (GRCm39)	splice site	probably benign
PIT4812001:Pbx3	UTSW	2	34,114,631 (GRCm39)	missense	probably damaging	0.96
R0302:Pbx3	UTSW	2	34,114,572 (GRCm39)	missense	probably benign	0.42
R1529:Pbx3	UTSW	2	34,094,871 (GRCm39)	missense	probably damaging	1.00
R1627:Pbx3	UTSW	2	34,065,965 (GRCm39)	missense	probably benign	0.00
R1652:Pbx3	UTSW	2	34,114,568 (GRCm39)	missense	probably damaging	1.00
R1791:Pbx3	UTSW	2	34,114,464 (GRCm39)	missense	possibly damaging	0.95
R1850:Pbx3	UTSW	2	34,066,832 (GRCm39)	missense	probably benign	0.34
R2908:Pbx3	UTSW	2	34,062,933 (GRCm39)	missense	probably damaging	0.96
R4073:Pbx3	UTSW	2	34,114,424 (GRCm39)	missense	probably damaging	1.00
R5212:Pbx3	UTSW	2	34,178,793 (GRCm39)	intron	probably benign
R5897:Pbx3	UTSW	2	34,261,920 (GRCm39)	missense	probably benign	0.01
R7376:Pbx3	UTSW	2	34,094,889 (GRCm39)	missense	probably damaging	0.96
R7504:Pbx3	UTSW	2	34,065,936 (GRCm39)	missense	probably damaging	0.99
R7812:Pbx3	UTSW	2	34,114,478 (GRCm39)	missense	probably damaging	1.00
R8079:Pbx3	UTSW	2	34,068,240 (GRCm39)	missense	probably benign	0.36
R9104:Pbx3	UTSW	2	34,114,629 (GRCm39)	missense	probably damaging	1.00
R9114:Pbx3	UTSW	2	34,103,271 (GRCm39)	missense	probably damaging	1.00
R9225:Pbx3	UTSW	2	34,260,938 (GRCm39)	unclassified	probably benign
R9336:Pbx3	UTSW	2	34,261,832 (GRCm39)	missense	probably benign	0.30
R9420:Pbx3	UTSW	2	34,103,348 (GRCm39)	missense	probably damaging	0.96
R9445:Pbx3	UTSW	2	34,114,555 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACAGCTCCGCAAAGTTTGCC -3'
(R):5'- TGGACGATCAATCCAGGATGCTGC -3'

Sequencing Primer
(F):5'- CGAAGCAATGATCGAGTTTGTCC -3'
(R):5'- ACTCTGGCCGGGGTGAA -3'

Posted On

2014-04-13