Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Pax9'

58247

Institutional Source

Beutler Lab

Gene Symbol

Pax9

Ensembl Gene

ENSMUSG00000001497

Gene Name

paired box 9

Synonyms

Pax-9

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0008 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

56738552-56759607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56756528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 289 (T289A)

Ref Sequence

ENSEMBL: ENSMUSP00000117928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001538] [ENSMUST00000044634] [ENSMUST00000110680] [ENSMUST00000153250] [ENSMUST00000217690]

AlphaFold

P47242

Predicted Effect

probably benign
Transcript: ENSMUST00000001538
AA Change: T289A

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

SMART Domains

Protein: ENSMUSP00000001538
Gene: ENSMUSG00000001497
AA Change: T289A

Domain	Start	End	E-Value	Type
PAX	4	128	6.81e-90	SMART
low complexity region	265	274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000044634

SMART Domains

Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	10	104	2.3e-24	PFAM
Pfam:Mito_carr	107	200	1.3e-16	PFAM
Pfam:Mito_carr	202	298	3.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110680

SMART Domains

Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	28	111	4.7e-21	PFAM
Pfam:Mito_carr	114	207	7.7e-17	PFAM
Pfam:Mito_carr	209	305	2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152848

Predicted Effect

probably benign
Transcript: ENSMUST00000153250
AA Change: T289A

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

SMART Domains

Protein: ENSMUSP00000117928
Gene: ENSMUSG00000001497
AA Change: T289A

Domain	Start	End	E-Value	Type
PAX	4	128	6.81e-90	SMART
low complexity region	265	274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217690

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (109/111)

MGI Phenotype

FUNCTION: This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal tooth development and absent teeth and may lead to lack of pharyngeal pouch derivatives, athymia, craniofacial and limb anomalies, a small tympanic ring, various defects of the skeleton and musculature, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,882,346 (GRCm39)	K118R	possibly damaging	Het
Adtrp	T	C	13: 41,920,941 (GRCm39)	T88A	probably damaging	Het
Afap1l1	A	G	18: 61,889,976 (GRCm39)	S87P	probably benign	Het
Ankrd27	A	G	7: 35,303,125 (GRCm39)	K196R	probably benign	Het
Apoe	G	A	7: 19,431,005 (GRCm39)	T79M	probably damaging	Het
Arrdc3	T	A	13: 81,032,011 (GRCm39)	Y81*	probably null	Het
Arrdc3	T	A	13: 81,039,194 (GRCm39)	I75N	probably damaging	Het
Asah2	T	A	19: 31,981,131 (GRCm39)	K629*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
C130074G19Rik	A	G	1: 184,615,119 (GRCm39)	S24P	probably benign	Het
C87436	A	G	6: 86,423,265 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,203,618 (GRCm39)	D54G	probably benign	Het
Clcn2	T	C	16: 20,529,140 (GRCm39)	N367S	probably null	Het
Cnot1	G	T	8: 96,487,969 (GRCm39)	D562E	probably damaging	Het
Commd6	G	A	14: 101,877,709 (GRCm39)		probably benign	Het
Cox6a2	G	A	7: 127,805,212 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,022,287 (GRCm39)	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,439,032 (GRCm39)	V64A	probably damaging	Het
Eng	T	C	2: 32,567,692 (GRCm39)	V110A	probably damaging	Het
Esyt3	T	C	9: 99,220,860 (GRCm39)	I114M	possibly damaging	Het
Fam83h	A	T	15: 75,875,811 (GRCm39)	Y509N	probably damaging	Het
Fat2	A	T	11: 55,202,075 (GRCm39)	L333H	probably damaging	Het
Fbxo21	A	G	5: 118,146,078 (GRCm39)	N567S	possibly damaging	Het
Fcsk	T	C	8: 111,610,865 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,879 (GRCm39)	L1964Q	probably damaging	Het
Gorasp1	G	T	9: 119,757,312 (GRCm39)	S353R	possibly damaging	Het
Grk2	C	T	19: 4,337,262 (GRCm39)	E646K	probably damaging	Het
Hoxc11	T	C	15: 102,863,397 (GRCm39)	V146A	probably damaging	Het
Igf2bp2	T	C	16: 21,894,841 (GRCm39)	T301A	probably benign	Het
Il11	T	C	7: 4,776,658 (GRCm39)	S111G	probably benign	Het
Ist1	A	T	8: 110,403,418 (GRCm39)	I273K	probably benign	Het
Kdm2b	G	A	5: 123,019,806 (GRCm39)	S738L	probably benign	Het
Lrp2	T	A	2: 69,346,895 (GRCm39)	N784Y	probably benign	Het
Lrp6	T	C	6: 134,462,716 (GRCm39)	E648G	probably damaging	Het
Mapk15	G	A	15: 75,870,103 (GRCm39)	E408K	probably benign	Het
Mdn1	T	A	4: 32,718,317 (GRCm39)	F2191I	possibly damaging	Het
Metrn	C	A	17: 26,015,479 (GRCm39)	V79F	possibly damaging	Het
Mtbp	T	A	15: 55,449,889 (GRCm39)		probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo3a	T	A	2: 22,469,753 (GRCm39)	I508N	probably damaging	Het
Nat9	A	T	11: 115,075,941 (GRCm39)	Y27N	probably damaging	Het
Ncapg2	T	C	12: 116,393,455 (GRCm39)	F553S	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112 (GRCm39)	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,449,274 (GRCm39)	H852L	probably benign	Het
Or2d3b	A	G	7: 106,514,226 (GRCm39)	I274V	probably benign	Het
Or2t6	T	A	14: 14,176,092 (GRCm38)		probably benign	Het
Or4a78	T	A	2: 89,497,428 (GRCm39)	K267N	probably damaging	Het
Or52e3	A	T	7: 102,869,558 (GRCm39)	D211V	probably damaging	Het
Or52e3	G	A	7: 102,869,584 (GRCm39)	A220T	probably benign	Het
Or5b122	A	G	19: 13,563,240 (GRCm39)	I191V	probably benign	Het
Pcyt2	A	T	11: 120,506,695 (GRCm39)	I53N	possibly damaging	Het
Pdlim4	C	T	11: 53,945,875 (GRCm39)	V327M	probably damaging	Het
Pdzph1	T	A	17: 59,229,756 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,704 (GRCm39)		probably benign	Het
Ppt1	T	C	4: 122,742,216 (GRCm39)		probably benign	Het
Prdm1	C	T	10: 44,317,675 (GRCm39)	E398K	probably damaging	Het
Prep	T	C	10: 44,991,174 (GRCm39)	V280A	probably benign	Het
Prkdc	T	A	16: 15,526,565 (GRCm39)		probably benign	Het
Proser3	G	A	7: 30,239,563 (GRCm39)	R514C	probably damaging	Het
Ptk7	G	A	17: 46,883,688 (GRCm39)		probably benign	Het
Rbm45	T	C	2: 76,208,742 (GRCm39)	Y293H	probably damaging	Het
Rnf213	A	C	11: 119,355,878 (GRCm39)	E4108A	possibly damaging	Het
Sdk2	A	G	11: 113,747,581 (GRCm39)	L643P	probably damaging	Het
Sec24d	C	A	3: 123,144,525 (GRCm39)		probably benign	Het
Sh2d3c	C	G	2: 32,643,033 (GRCm39)	H587D	probably damaging	Het
Slc1a1	G	A	19: 28,878,884 (GRCm39)	G208S	probably benign	Het
Slc35b4	A	T	6: 34,135,452 (GRCm39)	Y287N	probably damaging	Het
Slc46a2	T	A	4: 59,914,544 (GRCm39)	L126F	probably damaging	Het
Slc4a8	T	C	15: 100,698,374 (GRCm39)	M621T	possibly damaging	Het
Slc9b2	T	A	3: 135,042,269 (GRCm39)	V516D	possibly damaging	Het
Slco1a6	T	A	6: 142,102,948 (GRCm39)		probably benign	Het
Sncg	C	T	14: 34,096,495 (GRCm39)	V15I	probably benign	Het
Srgap2	T	C	1: 131,283,302 (GRCm39)	T260A	probably damaging	Het
Stk10	T	A	11: 32,537,305 (GRCm39)		probably benign	Het
Taf5	A	G	19: 47,064,301 (GRCm39)	S415G	possibly damaging	Het
Tdp1	C	T	12: 99,921,217 (GRCm39)		probably benign	Het
Tdp2	T	G	13: 25,025,333 (GRCm39)		probably null	Het
Tgfbi	T	A	13: 56,777,587 (GRCm39)	I357N	probably benign	Het
Tmem116	A	G	5: 121,633,159 (GRCm39)	T178A	probably damaging	Het
Tnrc6a	G	A	7: 122,769,617 (GRCm39)	R469H	probably benign	Het
Top2a	A	T	11: 98,893,729 (GRCm39)	L1055*	probably null	Het
Tox	T	A	4: 6,842,411 (GRCm39)	M40L	probably benign	Het
Trib2	A	T	12: 15,859,930 (GRCm39)	H110Q	probably benign	Het
Trpa1	A	G	1: 14,973,439 (GRCm39)	I293T	possibly damaging	Het
Trpv2	A	G	11: 62,481,086 (GRCm39)	Y395C	probably damaging	Het
Ubn2	T	A	6: 38,411,535 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,157,487 (GRCm39)	T2348M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn1r33	C	A	6: 66,589,510 (GRCm39)	G15*	probably null	Het
Vmn1r37	T	A	6: 66,708,769 (GRCm39)	S95T	probably benign	Het
Vmn2r57	A	G	7: 41,050,076 (GRCm39)	C558R	probably damaging	Het
Vnn1	T	C	10: 23,774,500 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,826,544 (GRCm39)	V1395A	probably benign	Het
Vwa7	A	G	17: 35,238,781 (GRCm39)	I290V	probably benign	Het
Wdr93	A	G	7: 79,408,221 (GRCm39)	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,246,291 (GRCm39)	S245R	probably benign	Het
Zfp942	A	T	17: 22,147,319 (GRCm39)	C437S	probably damaging	Het
Zfyve9	T	A	4: 108,575,902 (GRCm39)	E393V	possibly damaging	Het

Other mutations in Pax9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Pax9	APN	12	56,746,860 (GRCm39)	missense	probably benign
IGL02724:Pax9	APN	12	56,756,604 (GRCm39)	missense	possibly damaging	0.76
R0008:Pax9	UTSW	12	56,756,528 (GRCm39)	missense	probably benign
R1836:Pax9	UTSW	12	56,746,839 (GRCm39)	missense	probably benign	0.03
R1916:Pax9	UTSW	12	56,743,923 (GRCm39)	missense	possibly damaging	0.60
R2907:Pax9	UTSW	12	56,756,529 (GRCm39)	missense	probably benign	0.03
R3778:Pax9	UTSW	12	56,743,533 (GRCm39)	missense	probably damaging	1.00
R4905:Pax9	UTSW	12	56,743,411 (GRCm39)	missense	probably damaging	1.00
R6247:Pax9	UTSW	12	56,756,480 (GRCm39)	missense	probably benign
R6469:Pax9	UTSW	12	56,743,648 (GRCm39)	missense	probably damaging	1.00
R6693:Pax9	UTSW	12	56,756,516 (GRCm39)	missense	probably benign	0.08
R7343:Pax9	UTSW	12	56,742,647 (GRCm39)	start codon destroyed	probably null	0.48
R7739:Pax9	UTSW	12	56,746,884 (GRCm39)	missense	probably benign	0.00
R7807:Pax9	UTSW	12	56,743,850 (GRCm39)	missense	possibly damaging	0.95
R8458:Pax9	UTSW	12	56,743,550 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TAGAGCCAGAGGGCTGTTAACTCC -3'
(R):5'- CTTGAGGCAGTAAAGCTGGACCAC -3'

Sequencing Primer
(F):5'- AGGGCTGTTAACTCCCTCAG -3'
(R):5'- CAGTAAAGCTGGACCACTGGAG -3'

Posted On

2013-07-11