Mutagenetix > Incidental Mutation

Incidental Mutation 'R5212:Pbx3'

403162

Institutional Source

Beutler Lab

Gene Symbol

Pbx3

Ensembl Gene

ENSMUSG00000038718

Gene Name

pre B cell leukemia homeobox 3

Synonyms

MMRRC Submission

042786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5212 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34061469-34262375 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 34178793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

O35317

Predicted Effect

probably benign
Transcript: ENSMUST00000040638

SMART Domains

Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718

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

SMART Domains

Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718

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

noncoding transcript
Transcript: ENSMUST00000131588

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

SMART Domains

Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718

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

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

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,771,611 (GRCm39)	S267T	possibly damaging	Het
Abca9	T	C	11: 109,998,052 (GRCm39)	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,584,980 (GRCm39)	D896V	probably damaging	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,733,843 (GRCm39)	R158W	probably damaging	Het
Arhgef7	A	G	8: 11,778,388 (GRCm39)	E46G	probably benign	Het
Atg2b	A	G	12: 105,613,055 (GRCm39)	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,417,886 (GRCm39)	K217N	probably damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,328,919 (GRCm39)	A845V	probably damaging	Het
Cd63	A	G	10: 128,747,722 (GRCm39)	Y105C	probably damaging	Het
Cdk11b	T	C	4: 155,723,072 (GRCm39)		probably null	Het
Clip1	T	A	5: 123,768,744 (GRCm39)	R618S	probably benign	Het
Crybg1	A	T	10: 43,843,739 (GRCm39)	F1731L	possibly damaging	Het
Dock1	A	C	7: 134,390,923 (GRCm39)	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,374,240 (GRCm39)	E180G	probably damaging	Het
F13b	A	T	1: 139,440,725 (GRCm39)	I394F	probably benign	Het
Fnta	A	G	8: 26,499,735 (GRCm39)	I155T	probably benign	Het
Fshr	T	A	17: 89,293,685 (GRCm39)	E331V	probably benign	Het
Fshr	T	A	17: 89,293,684 (GRCm39)	E331D	probably benign	Het
Gas2l1	A	T	11: 5,011,108 (GRCm39)	C574S	probably benign	Het
Ggnbp2	T	A	11: 84,744,847 (GRCm39)		probably benign	Het
Gm3371	A	C	14: 44,641,111 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,016 (GRCm39)		probably benign	Het
Hand1	A	C	11: 57,722,273 (GRCm39)	F114V	probably damaging	Het
Itga4	A	C	2: 79,110,939 (GRCm39)	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,262,245 (GRCm39)	H183L	probably benign	Het
Kifbp	A	T	10: 62,398,908 (GRCm39)		probably benign	Het
Krt8	G	T	15: 101,906,402 (GRCm39)	A369D	possibly damaging	Het
Krt82	T	C	15: 101,453,484 (GRCm39)	S301G	probably damaging	Het
Lig3	A	G	11: 82,678,504 (GRCm39)	T248A	probably benign	Het
Madcam1	C	G	10: 79,504,179 (GRCm39)	T255S	probably benign	Het
Med20	T	C	17: 47,929,775 (GRCm39)	Y71H	probably benign	Het
Mtss2	A	G	8: 111,455,850 (GRCm39)	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547 (GRCm39)	F328S	possibly damaging	Het
Ncbp3	A	G	11: 72,944,373 (GRCm39)		probably benign	Het
Nek8	T	C	11: 78,063,342 (GRCm39)	M1V	probably null	Het
Nufip1	A	T	14: 76,370,538 (GRCm39)	N413I	possibly damaging	Het
Plppr3	C	T	10: 79,698,279 (GRCm39)	G419R	probably benign	Het
Rfx1	G	T	8: 84,793,221 (GRCm39)		probably benign	Het
Rnpepl1	C	T	1: 92,839,045 (GRCm39)	A68V	probably benign	Het
Rsbn1l	A	T	5: 21,101,212 (GRCm39)	M776K	probably benign	Het
Setd7	A	T	3: 51,450,238 (GRCm39)	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snap47	T	C	11: 59,319,178 (GRCm39)	E320G	probably damaging	Het
Spaca6	C	A	17: 18,058,656 (GRCm39)	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,743,651 (GRCm39)	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,377,492 (GRCm39)	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,330,460 (GRCm39)	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,876,161 (GRCm39)	Q27L	probably benign	Het
Ttn	C	T	2: 76,731,957 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,619,945 (GRCm39)	I15908V	probably benign	Het
Ttn	T	A	2: 76,628,019 (GRCm39)	D12931V	probably damaging	Het
Ush2a	T	A	1: 188,176,902 (GRCm39)		probably null	Het
Wls	A	G	3: 159,578,645 (GRCm39)	N69S	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
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
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'- CATGTTATAAACCTTCACACTGCAG -3'
(R):5'- AATGGCCGGTGCTTGGTATC -3'

Sequencing Primer
(F):5'- AACCTTCACACTGCAGATTTTG -3'
(R):5'- GGTATCCTTGACAACAGTCCCG -3'

Posted On

2016-07-22