Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Pbx3'

188761

Institutional Source

Beutler Lab

Gene Symbol

Pbx3

Ensembl Gene

ENSMUSG00000038718

Gene Name

pre B cell leukemia homeobox 3

Synonyms

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34061469-34262375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34114568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 122 (G122D)

Ref Sequence

ENSEMBL: ENSMUSP00000108757 (fasta)

Gene Model

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

AlphaFold

O35317

Predicted Effect

probably damaging
Transcript: ENSMUST00000040638
AA Change: G122D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: G122D

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 damaging
Transcript: ENSMUST00000113132
AA Change: G122D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: G122D

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 damaging
Transcript: ENSMUST00000127353
AA Change: G47D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718
AA Change: G47D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138021
AA Change: G64D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718
AA Change: G64D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141653
AA Change: G47D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718
AA Change: G47D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143776

SMART Domains

Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153278

SMART Domains

Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718

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

Predicted Effect

unknown
Transcript: ENSMUST00000175855
AA Change: G38D

SMART Domains

Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718
AA Change: G38D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176213

SMART Domains

Protein: ENSMUSP00000135702
Gene: ENSMUSG00000038718

Domain	Start	End	E-Value	Type
Pfam:PBC	2	145	3.2e-76	PFAM
HOX	146	211	1.74e-17	SMART
low complexity region	219	247	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	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
R1526:Pbx3	UTSW	2	34,261,776 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCTTTTATGAACAAAGCCAGTGCC -3'
(R):5'- AATGTGAGCCGTGAAGCTCTCAG -3'

Sequencing Primer
(F):5'- TTCTTCAGGGCACCAAGTGAG -3'
(R):5'- CTCTCAGCATGAGTTGTAGTACAC -3'

Posted On

2014-05-09