Mutagenetix > Incidental Mutation

Incidental Mutation 'R7052:Pax1'

547641

Institutional Source

Beutler Lab

Gene Symbol

Pax1

Ensembl Gene

ENSMUSG00000037034

Gene Name

paired box 1

Synonyms

hunchback, wavy tail, hbs, wt, Pax-1

MMRRC Submission

045149-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.644) question?

Stock #

R7052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147203850-147216972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 147207824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 232 (R232H)

Ref Sequence

ENSEMBL: ENSMUSP00000119667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109968] [ENSMUST00000126068]

AlphaFold

P09084

Predicted Effect

probably damaging
Transcript: ENSMUST00000109968
AA Change: R144H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105594
Gene: ENSMUSG00000037034
AA Change: R144H

Domain	Start	End	E-Value	Type
low complexity region	9	55	N/A	INTRINSIC
PAX	89	213	9.13e-91	SMART
low complexity region	380	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126068
AA Change: R232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119667
Gene: ENSMUSG00000037034
AA Change: R232H

Domain	Start	End	E-Value	Type
low complexity region	97	143	N/A	INTRINSIC
PAX	177	301	9.13e-91	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for several mutations exhibit variably severe morphological alterations of vertebral column, sternum, scapula, skull, and thymus, with reduced adult survival and fertility. Some heterozygotes show milder skeletal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,604,261 (GRCm39)	R658H	probably benign	Het
Als2cl	C	T	9: 110,727,151 (GRCm39)	R906C	probably damaging	Het
Asb8	T	C	15: 98,034,282 (GRCm39)	H91R	probably damaging	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Bves	G	A	10: 45,222,386 (GRCm39)	R172H	possibly damaging	Het
C6	A	T	15: 4,763,177 (GRCm39)	N59I	probably damaging	Het
Capn15	A	T	17: 26,180,724 (GRCm39)	V782D	probably damaging	Het
Ccdc168	T	A	1: 44,096,466 (GRCm39)	Y1544F	possibly damaging	Het
Ccdc18	T	C	5: 108,309,554 (GRCm39)	L383S	probably benign	Het
Coro6	C	A	11: 77,357,056 (GRCm39)	N119K	probably benign	Het
Cps1	T	A	1: 67,237,569 (GRCm39)	D1023E	probably damaging	Het
Dctn1	T	A	6: 83,172,262 (GRCm39)		probably null	Het
Ero1a	T	A	14: 45,544,040 (GRCm39)	K55*	probably null	Het
Fam209	G	A	2: 172,314,751 (GRCm39)	G80D	possibly damaging	Het
Fam89b	G	A	19: 5,779,276 (GRCm39)	R94C	probably damaging	Het
Fut1	A	G	7: 45,269,181 (GRCm39)	*323W	probably null	Het
Garin2	C	T	12: 78,766,176 (GRCm39)	T315I	probably benign	Het
Gm47985	T	A	1: 151,058,890 (GRCm39)	F177Y	possibly damaging	Het
Gstm7	T	A	3: 107,838,633 (GRCm39)	D37V	probably damaging	Het
H2-Aa	T	A	17: 34,503,484 (GRCm39)	S38C	possibly damaging	Het
Ighg2c	T	C	12: 113,252,343 (GRCm39)	T70A		Het
Ino80	A	G	2: 119,257,068 (GRCm39)		probably null	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Kcnt2	A	G	1: 140,310,785 (GRCm39)	N197S	probably damaging	Het
Kif11	T	A	19: 37,373,040 (GRCm39)	C86*	probably null	Het
Lonp1	A	T	17: 56,933,549 (GRCm39)	F109I	probably benign	Het
Mlkl	G	A	8: 112,046,074 (GRCm39)	S312L	possibly damaging	Het
Mroh9	T	A	1: 162,866,525 (GRCm39)	Q706L	possibly damaging	Het
Mtmr7	T	C	8: 41,008,874 (GRCm39)	H315R	possibly damaging	Het
Myh7b	G	C	2: 155,456,053 (GRCm39)	R146P	probably damaging	Het
Naip5	A	G	13: 100,358,855 (GRCm39)	Y794H	probably benign	Het
Nup153	A	T	13: 46,840,949 (GRCm39)	N886K	probably benign	Het
Nup205	A	G	6: 35,192,077 (GRCm39)	R1047G	possibly damaging	Het
Oog3	A	T	4: 143,887,027 (GRCm39)	L31Q	probably damaging	Het
Or5b123	T	A	19: 13,596,990 (GRCm39)	S155T	probably benign	Het
Or6c38	T	C	10: 128,929,744 (GRCm39)	Y33C	probably damaging	Het
Palmd	T	C	3: 116,717,012 (GRCm39)	N495S	probably benign	Het
Patj	A	G	4: 98,565,497 (GRCm39)	Q1070R	probably benign	Het
Pcdhb1	A	G	18: 37,399,582 (GRCm39)	N511S	probably damaging	Het
Pigs	C	T	11: 78,232,211 (GRCm39)	L448F	probably damaging	Het
Pih1d2	A	G	9: 50,533,077 (GRCm39)	Y235C	probably damaging	Het
Pkd2l2	T	A	18: 34,558,212 (GRCm39)	I297K	possibly damaging	Het
Pou2f1	C	T	1: 165,742,684 (GRCm39)	V82I	possibly damaging	Het
Pramel1	T	C	4: 143,123,074 (GRCm39)	L17P	probably damaging	Het
Riok1	C	T	13: 38,220,991 (GRCm39)		probably benign	Het
Scg3	C	A	9: 75,568,664 (GRCm39)	E358*	probably null	Het
Siglec15	T	C	18: 78,091,946 (GRCm39)	E85G	probably damaging	Het
Snx20	T	C	8: 89,356,606 (GRCm39)	H70R	probably benign	Het
Spi1	T	A	2: 90,943,685 (GRCm39)	S76R	probably damaging	Het
Stat5a	T	C	11: 100,770,111 (GRCm39)	S463P	probably damaging	Het
Svs5	A	G	2: 164,080,126 (GRCm39)	I13T	unknown	Het
Tmem132e	T	C	11: 82,328,189 (GRCm39)	S406P	probably damaging	Het
Top1mt	T	C	15: 75,540,560 (GRCm39)	N237S	possibly damaging	Het
Trav6d-4	G	A	14: 52,991,053 (GRCm39)	V30M	possibly damaging	Het
Trp73	A	T	4: 154,149,140 (GRCm39)	M217K	probably damaging	Het
Vmn1r58	A	G	7: 5,414,134 (GRCm39)	I32T	probably benign	Het
Vmn1r9	T	C	6: 57,048,396 (GRCm39)	M157T	probably benign	Het
Vmn2r100	C	T	17: 19,751,556 (GRCm39)	S533F	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,507 (GRCm39)	M160K	probably benign	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Pax1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
wavy	UTSW	2	147,207,722 (GRCm39)	missense	probably damaging	1.00
R0030:Pax1	UTSW	2	147,210,502 (GRCm39)	missense	probably damaging	0.99
R0147:Pax1	UTSW	2	147,215,654 (GRCm39)	missense	probably benign	0.17
R0304:Pax1	UTSW	2	147,208,067 (GRCm39)	missense	probably benign	0.20
R1544:Pax1	UTSW	2	147,210,321 (GRCm39)	missense	probably damaging	0.99
R1583:Pax1	UTSW	2	147,208,175 (GRCm39)	missense	possibly damaging	0.94
R1937:Pax1	UTSW	2	147,209,809 (GRCm39)	missense	possibly damaging	0.78
R2143:Pax1	UTSW	2	147,207,802 (GRCm39)	missense	probably damaging	1.00
R2208:Pax1	UTSW	2	147,207,722 (GRCm39)	missense	probably damaging	1.00
R2915:Pax1	UTSW	2	147,210,348 (GRCm39)	missense	probably damaging	1.00
R3878:Pax1	UTSW	2	147,204,228 (GRCm39)	unclassified	probably benign
R4788:Pax1	UTSW	2	147,208,124 (GRCm39)	missense	possibly damaging	0.94
R6323:Pax1	UTSW	2	147,210,321 (GRCm39)	missense	probably damaging	1.00
R6842:Pax1	UTSW	2	147,215,640 (GRCm39)	missense	probably benign	0.00
R7117:Pax1	UTSW	2	147,208,190 (GRCm39)	missense	probably damaging	0.98
R7703:Pax1	UTSW	2	147,208,034 (GRCm39)	missense	probably damaging	1.00
R8487:Pax1	UTSW	2	147,206,968 (GRCm39)	start codon destroyed	probably null
R8958:Pax1	UTSW	2	147,210,517 (GRCm39)	critical splice donor site	probably null
R9092:Pax1	UTSW	2	147,204,287 (GRCm39)	missense	unknown
Z1177:Pax1	UTSW	2	147,210,431 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGACACCCTTGAGTAACCC -3'
(R):5'- ACGTTGTACTTGTCACAAACG -3'

Sequencing Primer
(F):5'- GAGTAACCCGCCGGTGTTTTC -3'
(R):5'- TTGTACTTGTCACAAACGCCATCAG -3'

Posted On

2019-05-13