Mutagenetix > Incidental Mutation

Incidental Mutation 'R9104:Pbx3'

691865

Institutional Source

Beutler Lab

Gene Symbol

Pbx3

Ensembl Gene

ENSMUSG00000038718

Gene Name

pre B cell leukemia homeobox 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34061469-34262375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34114629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 102 (D102Y)

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 damaging
Transcript: ENSMUST00000040638
AA Change: D102Y

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

SMART Domains

Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: D102Y

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: D102Y

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: D102Y

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: D27Y

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

SMART Domains

Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718
AA Change: D27Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138021
AA Change: D44Y

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718
AA Change: D44Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141653
AA Change: D27Y

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

SMART Domains

Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718
AA Change: D27Y

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

SMART Domains

Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718
AA Change: D18Y

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,023,108 (GRCm39)	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,457,912 (GRCm39)	A14V	probably benign	Het
Adra2b	A	G	2: 127,205,858 (GRCm39)	Y125C	probably damaging	Het
Ahnak	T	A	19: 8,987,711 (GRCm39)	H2998Q	probably benign	Het
B3galt1	C	A	2: 67,948,406 (GRCm39)	H40Q	probably benign	Het
Best3	T	G	10: 116,860,680 (GRCm39)	L647V	probably benign	Het
Brip1	T	A	11: 86,077,897 (GRCm39)	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,409,109 (GRCm39)	D246G	probably benign	Het
C4b	G	A	17: 34,948,233 (GRCm39)	T1622M	probably benign	Het
Catip	G	A	1: 74,401,682 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,348,982 (GRCm39)	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,526,879 (GRCm39)	H243R	probably damaging	Het
Cep19	C	T	16: 31,925,883 (GRCm39)	T97M	probably damaging	Het
Copz2	G	A	11: 96,747,514 (GRCm39)	D166N	possibly damaging	Het
Dedd	C	T	1: 171,168,572 (GRCm39)	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,497,713 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,339,484 (GRCm39)	S348T	probably damaging	Het
Eci3	A	G	13: 35,144,382 (GRCm39)		probably null	Het
Egr4	A	G	6: 85,490,337 (GRCm39)	S15P	probably benign	Het
Elp6	A	G	9: 110,134,397 (GRCm39)	T12A	probably benign	Het
Ewsr1	G	T	11: 5,041,367 (GRCm39)	P113T	unknown	Het
Exosc10	T	G	4: 148,664,859 (GRCm39)	L789R	probably benign	Het
Flt4	A	G	11: 49,525,161 (GRCm39)	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,836,517 (GRCm39)	F333I	probably damaging	Het
Frs2	G	T	10: 116,910,070 (GRCm39)	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm19410	T	C	8: 36,247,621 (GRCm39)	Y478H	probably damaging	Het
Gm3629	G	A	14: 17,834,542 (GRCm39)	R150C		Het
Grik4	A	C	9: 42,571,168 (GRCm39)	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,730,941 (GRCm39)		probably null	Het
Il20ra	T	A	10: 19,635,364 (GRCm39)	M535K	probably benign	Het
Il9	A	G	13: 56,628,401 (GRCm39)	V96A	possibly damaging	Het
Itgal	A	G	7: 126,910,794 (GRCm39)	D592G	probably damaging	Het
Klk1b11	C	T	7: 43,427,875 (GRCm39)		probably benign	Het
Klk1b27	G	A	7: 43,705,310 (GRCm39)	W159*	probably null	Het
Mapk9	T	C	11: 49,760,000 (GRCm39)	Y105H	probably damaging	Het
Mmp7	A	G	9: 7,697,947 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,286,224 (GRCm39)	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,566,724 (GRCm39)	N131D	unknown	Het
Nbea	A	C	3: 55,862,809 (GRCm39)	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Or1j8	T	C	2: 36,191,956 (GRCm39)	V135A		Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or8g27	G	A	9: 39,128,831 (GRCm39)	M59I	probably damaging	Het
Pdia6	G	A	12: 17,320,492 (GRCm39)	V44I	probably benign	Het
Pkdcc	G	A	17: 83,528,471 (GRCm39)	R280H	probably damaging	Het
Ppm1h	A	G	10: 122,638,264 (GRCm39)	E178G	probably benign	Het
Prom1	C	T	5: 44,172,161 (GRCm39)	S619N	probably benign	Het
Prtg	A	C	9: 72,755,607 (GRCm39)	I270L	probably damaging	Het
Rfx6	A	T	10: 51,599,106 (GRCm39)	H487L	probably damaging	Het
Rpl18a	A	C	8: 71,348,788 (GRCm39)	Y63D	probably benign	Het
Rtl1	T	A	12: 109,560,718 (GRCm39)	M374L	probably benign	Het
Scaper	A	G	9: 55,819,400 (GRCm39)	L105P	unknown	Het
Slc16a13	T	A	11: 70,111,530 (GRCm39)		probably benign	Het
Slc6a13	A	G	6: 121,313,044 (GRCm39)	K487R	probably benign	Het
Slc7a11	T	A	3: 50,332,082 (GRCm39)	T459S	probably benign	Het
Smarcad1	A	G	6: 65,075,649 (GRCm39)	Q708R	probably benign	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Syde1	T	C	10: 78,421,670 (GRCm39)	H627R	probably benign	Het
Tas2r113	G	A	6: 132,870,116 (GRCm39)	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,038,626 (GRCm39)	Y690C	probably damaging	Het
Tchh	A	T	3: 93,354,610 (GRCm39)	H1350L	unknown	Het
Tex15	T	A	8: 34,060,950 (GRCm39)	Y127N	possibly damaging	Het
Thsd4	T	C	9: 59,964,179 (GRCm39)	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,015,099 (GRCm39)	D216G	probably benign	Het
Tyk2	T	C	9: 21,026,762 (GRCm39)	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,743,217 (GRCm39)		probably null	Het
Uvssa	A	C	5: 33,571,404 (GRCm39)	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,457,166 (GRCm39)	M198K	probably benign	Het
Zfp772	T	A	7: 7,207,190 (GRCm39)	H167L	possibly damaging	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
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
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'- CTGATCTGGGTCAATTTGGCTC -3'
(R):5'- TAGGGGTCCTAGGATGCATG -3'

Sequencing Primer
(F):5'- GCTCTGTAATCTGAGTGTTCAATAG -3'
(R):5'- ACAATTCTCATAGCCAAGCTTG -3'

Posted On

2021-12-30