Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Pbx3'

707118

Institutional Source

Beutler Lab

Gene Symbol

Pbx3

Ensembl Gene

ENSMUSG00000038718

Gene Name

pre B cell leukemia homeobox 3

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34171457-34373142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34371820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 34 (H34L)

Ref Sequence

ENSEMBL: ENSMUSP00000045281 (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: H34L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: H34L

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: H34L

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

SMART Domains

Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: H34L

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 benign
Transcript: ENSMUST00000143776
AA Change: H34L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718
AA Change: H34L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153278
AA Change: H34L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718
AA Change: H34L

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

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 147,945,033	R487C	probably benign	Het
2610044O15Rik8	A	T	8: 129,217,668	D91E	unknown	Het
2900026A02Rik	A	T	5: 113,093,100		probably null	Het
9130011E15Rik	A	T	19: 45,956,681	M277K	probably damaging	Het
Adamts15	T	A	9: 30,904,789	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,322,027	V675A	probably benign	Het
Ank3	A	T	10: 69,973,748	T1120S	probably benign	Het
Babam2	A	T	5: 31,701,850	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,341,219	Q261*	probably null	Het
Cdc27	A	T	11: 104,505,670	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494	V324I	probably benign	Het
Cfap44	T	C	16: 44,422,444	I737T	probably damaging	Het
Chrm3	A	T	13: 9,878,616	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,904,441	S743T	probably benign	Het
Ddias	A	G	7: 92,858,106	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,678,587	T814R	possibly damaging	Het
Dgka	A	T	10: 128,731,066		probably null	Het
Dnah9	A	T	11: 65,870,949	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,524,685	Q271K	probably benign	Het
Dvl2	T	A	11: 70,006,354	I294N	probably damaging	Het
E2f3	G	A	13: 29,911,256	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,505,277	D457N	probably damaging	Het
Erbb3	T	C	10: 128,585,060	T125A	probably benign	Het
Etv5	A	C	16: 22,435,877	C78G	probably benign	Het
Frrs1	G	A	3: 116,890,933	R263H	probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Hivep3	A	T	4: 120,095,203	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,682,828	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901		probably null	Het
Igkv1-88	T	A	6: 68,862,329	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,409,167	N185S	probably benign	Het
Kmt2d	A	C	15: 98,845,816	L3821R	unknown	Het
Krtap22-2	T	G	16: 89,010,590	Y40S	unknown	Het
Lrrc1	A	G	9: 77,442,198	V362A	probably damaging	Het
Malsu1	T	A	6: 49,084,515	I171N	probably damaging	Het
Mark1	C	T	1: 184,916,148	G314S	possibly damaging	Het
Mib2	T	C	4: 155,658,937	N135S	probably benign	Het
Mos	A	T	4: 3,870,886	L310Q	probably damaging	Het
Muc4	C	T	16: 32,750,938	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,880,238	T1654A		Het
Napsa	G	T	7: 44,582,345	G153W	probably damaging	Het
Nos3	A	C	5: 24,379,763	I722L	probably benign	Het
Olfr1457	A	T	19: 13,095,149	S166R	probably benign	Het
Olfr406	A	T	11: 74,269,917	D176V	probably damaging	Het
Olfr419	A	T	1: 174,250,113	D271E	probably damaging	Het
Olfr555	A	T	7: 102,658,992	H57L	probably damaging	Het
P4ha2	T	A	11: 54,111,564	D109E	possibly damaging	Het
Pappa	G	T	4: 65,124,681	C47F	unknown	Het
Pcca	A	G	14: 122,650,326	T234A	probably benign	Het
Pcdha11	C	T	18: 37,011,461	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,662,198	V85G	probably damaging	Het
Pclo	A	G	5: 14,676,548	I1807V	unknown	Het
Pgm3	A	T	9: 86,555,360	F528Y	probably benign	Het
Pigz	T	C	16: 31,944,876	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,875,435	Q687H		Het
Pja2	A	T	17: 64,283,437	N700K	unknown	Het
Pkd2l2	T	C	18: 34,428,105	F389L	probably damaging	Het
Plcz1	T	A	6: 140,039,720	T32S	possibly damaging	Het
Pola2	A	G	19: 5,941,001	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,049,660	C541G	probably benign	Het
Prr15l	A	T	11: 96,934,773	K76N	probably damaging	Het
Psg28	C	A	7: 18,422,980	K443N	possibly damaging	Het
Ptch2	G	T	4: 117,097,000	A76S	probably damaging	Het
Ptch2	A	G	4: 117,109,579	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,856	S982P	probably benign	Het
Rnd3	T	C	2: 51,148,832	I15V	probably benign	Het
Rtn3	T	C	19: 7,482,963	K41E	unknown	Het
Sap25	T	C	5: 137,641,723	S30P	probably benign	Het
Scfd2	A	T	5: 74,531,345	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108	Y106C	probably damaging	Het
Sell	T	C	1: 164,065,608	I131T	probably damaging	Het
Sesn3	T	A	9: 14,314,554	V195D	probably damaging	Het
Setdb2	A	G	14: 59,423,367	V109A	unknown	Het
Skint2	T	C	4: 112,625,857	I153T	probably benign	Het
Slc22a1	A	G	17: 12,667,255	S164P	probably damaging	Het
Sowahc	G	A	10: 59,222,483	G147D	probably benign	Het
Strip2	G	C	6: 29,931,825	G456R	probably benign	Het
Synpo	G	T	18: 60,602,400	R825S	probably damaging	Het
Tango6	A	G	8: 106,689,069	D174G	probably benign	Het
Tas1r2	T	C	4: 139,662,005	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,434,943	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,208,961	F512S	probably damaging	Het
Tenm3	A	T	8: 48,417,080	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,894,953	M771K	probably benign	Het
Trim29	T	C	9: 43,327,053	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,358,853	K144E	probably benign	Het
Ttc21b	A	G	2: 66,226,943	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,137,271	H269R	probably benign	Het
Utp20	A	G	10: 88,813,936	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,525,201	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,210,010	V680A	probably damaging	Het
Wee1	G	A	7: 110,122,482	G45S	probably damaging	Het
Zfp518a	G	A	19: 40,912,781	V385I	probably benign	Het

Other mutations in Pbx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02468:Pbx3	APN	2	34224577	missense	probably damaging	1.00
IGL02524:Pbx3	APN	2	34370818	splice site	probably benign
PIT4812001:Pbx3	UTSW	2	34224619	missense	probably damaging	0.96
R0302:Pbx3	UTSW	2	34224560	missense	probably benign	0.42
R1526:Pbx3	UTSW	2	34371764	missense	probably damaging	1.00
R1529:Pbx3	UTSW	2	34204859	missense	probably damaging	1.00
R1627:Pbx3	UTSW	2	34175953	missense	probably benign	0.00
R1652:Pbx3	UTSW	2	34224556	missense	probably damaging	1.00
R1791:Pbx3	UTSW	2	34224452	missense	possibly damaging	0.95
R1850:Pbx3	UTSW	2	34176820	missense	probably benign	0.34
R2908:Pbx3	UTSW	2	34172921	missense	probably damaging	0.96
R4073:Pbx3	UTSW	2	34224412	missense	probably damaging	1.00
R5212:Pbx3	UTSW	2	34288781	intron	probably benign
R5897:Pbx3	UTSW	2	34371908	missense	probably benign	0.01
R7376:Pbx3	UTSW	2	34204877	missense	probably damaging	0.96
R7504:Pbx3	UTSW	2	34175924	missense	probably damaging	0.99
R7812:Pbx3	UTSW	2	34224466	missense	probably damaging	1.00
R8079:Pbx3	UTSW	2	34178228	missense	probably benign	0.36
R9104:Pbx3	UTSW	2	34224617	missense	probably damaging	1.00
R9114:Pbx3	UTSW	2	34213259	missense	probably damaging	1.00
R9225:Pbx3	UTSW	2	34370926	unclassified	probably benign
R9420:Pbx3	UTSW	2	34213336	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCGAGTTTGTCCCGAGCC -3'
(R):5'- CTGAGGACCAAGTTGTGCGG -3'

Sequencing Primer
(F):5'- AACTTTGCCCGCGCGATG -3'
(R):5'- CGCCGCTGTCCTCAGTC -3'

Posted On

2022-04-18