Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Pbx3'

24832

Institutional Source

Beutler Lab

Gene Symbol

Pbx3

Ensembl Gene

ENSMUSG00000038718

Gene Name

pre B cell leukemia homeobox 3

Synonyms

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34061469-34262375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34114572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 46 (S46T)

Ref Sequence

ENSEMBL: ENSMUSP00000114695 (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: S121T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: S121T

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: S121T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: S121T

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
AA Change: S46T

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718
AA Change: S46T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138021
AA Change: S63T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718
AA Change: S63T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141653
AA Change: S46T

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718
AA Change: S46T

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: S37T

SMART Domains

Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718
AA Change: S37T

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

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

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
Adprs	T	C	4: 126,211,185 (GRCm39)	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,356,229 (GRCm39)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,416,924 (GRCm39)		probably benign	Het
Ankra2	T	A	13: 98,408,200 (GRCm39)	S216R	probably damaging	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,028,342 (GRCm39)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,523 (GRCm39)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,376,796 (GRCm39)		probably benign	Het
Ccdc96	A	T	5: 36,643,445 (GRCm39)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,857,641 (GRCm39)		probably null	Het
Ccl4	T	A	11: 83,554,280 (GRCm39)		probably benign	Het
Cpt1b	A	G	15: 89,302,073 (GRCm39)	Y702H	probably benign	Het
Cr1l	G	A	1: 194,800,101 (GRCm39)	T153I	probably damaging	Het
Cyth2	C	A	7: 45,460,009 (GRCm39)	E57*	probably null	Het
Daxx	T	A	17: 34,132,594 (GRCm39)	S575T	probably damaging	Het
Depdc5	T	C	5: 33,061,890 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,521,956 (GRCm39)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,162,937 (GRCm39)	T428A	probably benign	Het
Dnm2	G	T	9: 21,411,639 (GRCm39)	A619S	probably benign	Het
Enpp2	T	C	15: 54,723,457 (GRCm39)	T639A	probably benign	Het
Epsti1	A	T	14: 78,177,366 (GRCm39)	H182L	probably damaging	Het
Exoc3l	C	T	8: 106,020,175 (GRCm39)	R250Q	probably benign	Het
Ggn	G	T	7: 28,870,665 (GRCm39)		probably null	Het
Il1rap	A	G	16: 26,511,544 (GRCm39)	N196S	probably benign	Het
Ints6	T	C	14: 62,946,961 (GRCm39)	T335A	probably damaging	Het
Itga1	G	A	13: 115,148,854 (GRCm39)		probably benign	Het
Kifc3	G	T	8: 95,830,098 (GRCm39)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,369,027 (GRCm39)	I422T	probably benign	Het
Lcn2	A	G	2: 32,274,901 (GRCm39)		probably benign	Het
Lonp2	A	G	8: 87,364,619 (GRCm39)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 85,047,506 (GRCm39)	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,598,552 (GRCm39)	R396L	probably benign	Het
Lypd6	T	G	2: 50,055,679 (GRCm39)		probably benign	Het
Man2b1	A	G	8: 85,819,645 (GRCm39)	N610S	probably damaging	Het
Map2	A	T	1: 66,453,987 (GRCm39)	N959I	probably benign	Het
Mctp2	C	T	7: 71,740,012 (GRCm39)	V793I	possibly damaging	Het
Med25	A	C	7: 44,529,982 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,616 (GRCm39)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,488,820 (GRCm39)	M499L	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Nfat5	T	C	8: 108,085,333 (GRCm39)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,022,358 (GRCm39)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,147,623 (GRCm39)		probably benign	Het
Oprl1	G	A	2: 181,361,021 (GRCm39)	C318Y	probably benign	Het
Or5d40	T	A	2: 88,015,854 (GRCm39)	I211N	possibly damaging	Het
Pign	A	T	1: 105,516,818 (GRCm39)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,713,091 (GRCm39)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,595,057 (GRCm39)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,477,468 (GRCm39)		probably benign	Het
Slc2a7	C	T	4: 150,233,978 (GRCm39)	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,340,218 (GRCm39)	D487G	probably damaging	Het
Son	G	T	16: 91,453,032 (GRCm39)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,850,964 (GRCm39)	N388S	probably benign	Het
Spg11	A	T	2: 121,922,668 (GRCm39)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,479,038 (GRCm39)	M1V	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,603 (GRCm39)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,779,824 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,353,438 (GRCm39)	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,968 (GRCm39)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,676,213 (GRCm39)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,087,170 (GRCm39)		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
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
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'- CCCTTTTATGAACAAAGCCAGTGCC -3'
(R):5'- AATGTGAGCCGTGAAGCTCTCAG -3'

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

Posted On

2013-04-16