Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:Pax1'

682143

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

068794-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.644) question?

Stock #

R8958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147203850-147216972 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 147210517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105594 (fasta)

Gene Model

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

AlphaFold

P09084

Predicted Effect

probably null
Transcript: ENSMUST00000109968

SMART Domains

Protein: ENSMUSP00000105594
Gene: ENSMUSG00000037034

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 benign
Transcript: ENSMUST00000126068

SMART Domains

Protein: ENSMUSP00000119667
Gene: ENSMUSG00000037034

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: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Ccdc28a	T	C	10: 18,089,926 (GRCm39)	I113M	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 194,812,243 (GRCm39)	G27R	probably damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
E2f7	C	A	10: 110,601,615 (GRCm39)	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Gp1ba	C	G	11: 70,531,730 (GRCm39)		probably benign	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lipo2	T	A	19: 33,698,361 (GRCm39)	K339*	probably null	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het
Zmpste24	C	A	4: 120,944,508 (GRCm39)	E97*	probably null	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
R7052:Pax1	UTSW	2	147,207,824 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCTGTAGTCGGCTTCCAGC -3'
(R):5'- CACTTCTAAGGAGGGGCATAGTG -3'

Sequencing Primer
(F):5'- GCAGTGGGAGGCTTCCTTC -3'
(R):5'- AGGGGCATAGTGTCCACAC -3'

Posted On

2021-08-31