Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:Paxip1'

60507

Institutional Source

Beutler Lab

Gene Symbol

Paxip1

Ensembl Gene

ENSMUSG00000002221

Gene Name

PAX interacting (with transcription-activation domain) protein 1

Synonyms

D5Ertd149e, PTIP

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0128 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27740080-27791691 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 27744185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002291]

AlphaFold

Q6NZQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000002291

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221

Domain	Start	End	E-Value	Type
BRCT	10	83	6.72e1	SMART
BRCT	96	173	8.83e-15	SMART
low complexity region	189	208	N/A	INTRINSIC
low complexity region	214	223	N/A	INTRINSIC
coiled coil region	489	547	N/A	INTRINSIC
BRCT	590	671	5.74e-14	SMART
BRCT	690	766	1.67e-15	SMART
BRCT	845	924	4.03e-9	SMART
BRCT	957	1046	3.54e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197625

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,575,639 (GRCm38)		probably benign	Het
Abcd4	T	G	12: 84,612,352 (GRCm38)	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,809,176 (GRCm38)		probably benign	Het
Actl6b	A	G	5: 137,555,065 (GRCm38)	N113S	probably benign	Het
Actn3	A	T	19: 4,871,615 (GRCm38)	V179E	probably damaging	Het
Aff4	C	A	11: 53,415,466 (GRCm38)	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,591,859 (GRCm38)	Q431*	probably null	Het
Anxa9	A	G	3: 95,302,422 (GRCm38)	S129P	probably benign	Het
Arfgef2	T	G	2: 166,835,719 (GRCm38)	I88S	probably damaging	Het
Asap3	C	A	4: 136,234,604 (GRCm38)	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,713,184 (GRCm38)	N477S	probably damaging	Het
Atp7b	C	T	8: 22,028,172 (GRCm38)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm38)		probably null	Het
C87436	G	A	6: 86,469,827 (GRCm38)	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,528,360 (GRCm38)	I314N	probably damaging	Het
Ccs	A	G	19: 4,825,626 (GRCm38)	F237S	probably damaging	Het
Ccz1	T	G	5: 144,009,294 (GRCm38)		probably benign	Het
Cdcp2	C	T	4: 107,106,707 (GRCm38)		probably benign	Het
Chd1	A	G	17: 17,393,567 (GRCm38)	N531S	probably damaging	Het
Clptm1	A	T	7: 19,635,007 (GRCm38)	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm38)	P568L	unknown	Het
Cped1	T	A	6: 22,121,039 (GRCm38)	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231 (GRCm38)	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771 (GRCm38)		probably benign	Het
Dcdc2a	A	T	13: 25,187,672 (GRCm38)		probably benign	Het
Dlg1	G	T	16: 31,858,065 (GRCm38)		probably null	Het
Epb41l5	A	C	1: 119,549,902 (GRCm38)	V705G	possibly damaging	Het
Ergic3	C	A	2: 156,011,140 (GRCm38)	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092 (GRCm38)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982 (GRCm38)	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995 (GRCm38)	T443A	probably damaging	Het
Ghrl	A	T	6: 113,717,168 (GRCm38)		probably benign	Het
Gm1141	T	C	X: 71,939,555 (GRCm38)	C378R	possibly damaging	Het
Gm12166	A	G	11: 46,052,293 (GRCm38)	M1T	probably null	Het
Gm4787	T	A	12: 81,377,747 (GRCm38)	K546*	probably null	Het
Gm498	G	T	7: 143,891,755 (GRCm38)	G178C	probably damaging	Het
Gm6576	C	G	15: 27,026,000 (GRCm38)		noncoding transcript	Het
Got1	C	T	19: 43,524,377 (GRCm38)	D27N	probably benign	Het
Gucy2c	C	T	6: 136,704,249 (GRCm38)	V946I	probably damaging	Het
Hectd4	T	C	5: 121,349,243 (GRCm38)	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209 (GRCm38)	S348F	probably damaging	Het
Itpr1	A	G	6: 108,471,209 (GRCm38)		probably benign	Het
Kctd1	G	A	18: 14,974,180 (GRCm38)	P743S	probably benign	Het
Klhl23	T	C	2: 69,833,966 (GRCm38)	V553A	probably damaging	Het
Krt24	T	C	11: 99,280,267 (GRCm38)	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,077,143 (GRCm38)		probably null	Het
Lipo3	C	T	19: 33,557,106 (GRCm38)		probably null	Het
Lman2l	G	T	1: 36,424,864 (GRCm38)	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508 (GRCm38)	D378G	probably damaging	Het
Map3k4	T	A	17: 12,248,063 (GRCm38)	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,461,223 (GRCm38)	V15A	probably benign	Het
Narf	C	T	11: 121,250,836 (GRCm38)	R356C	probably damaging	Het
Nebl	T	A	2: 17,393,023 (GRCm38)	Q487H	possibly damaging	Het
Olfm5	G	A	7: 104,160,926 (GRCm38)	A76V	probably benign	Het
Olfr1090	T	C	2: 86,753,887 (GRCm38)	M284V	probably benign	Het
Olfr339	T	A	2: 36,422,287 (GRCm38)	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400 (GRCm38)	T240M	probably damaging	Het
Olfr656	A	T	7: 104,618,581 (GRCm38)	I301F	probably damaging	Het
Olfr992	T	A	2: 85,399,961 (GRCm38)	S191C	probably damaging	Het
Palb2	A	T	7: 122,128,166 (GRCm38)	Y160*	probably null	Het
Pclo	A	G	5: 14,679,797 (GRCm38)		probably benign	Het
Pdcd11	G	A	19: 47,119,862 (GRCm38)	V1223I	probably benign	Het
Pde6c	T	C	19: 38,169,365 (GRCm38)		probably benign	Het
Prr12	A	G	7: 45,050,039 (GRCm38)		probably benign	Het
Prss39	T	A	1: 34,502,200 (GRCm38)		probably benign	Het
Samd5	A	G	10: 9,674,939 (GRCm38)	W9R	probably damaging	Het
Sfr1	A	G	19: 47,735,018 (GRCm38)	*320W	probably null	Het
Sh3bp4	A	G	1: 89,145,314 (GRCm38)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961 (GRCm38)	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,636,209 (GRCm38)	M519V	probably benign	Het
Smcp	T	A	3: 92,584,520 (GRCm38)	T7S	unknown	Het
Sp4	A	G	12: 118,300,816 (GRCm38)		probably benign	Het
Spag9	T	A	11: 94,093,539 (GRCm38)	I327N	probably damaging	Het
Thbs4	G	T	13: 92,754,410 (GRCm38)	H850N	probably benign	Het
Ubap2l	A	T	3: 90,021,373 (GRCm38)	S478T	possibly damaging	Het
Unc79	A	G	12: 103,088,434 (GRCm38)		probably benign	Het
Vmn2r85	A	G	10: 130,419,185 (GRCm38)		probably benign	Het
Wrap73	A	G	4: 154,142,500 (GRCm38)	D19G	possibly damaging	Het

Other mutations in Paxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Paxip1	APN	5	27,772,552 (GRCm38)	utr 3 prime	probably benign
IGL01705:Paxip1	APN	5	27,748,859 (GRCm38)	missense	probably damaging	1.00
IGL01844:Paxip1	APN	5	27,751,038 (GRCm38)	missense	probably benign	0.17
IGL02143:Paxip1	APN	5	27,775,598 (GRCm38)	utr 3 prime	probably benign
IGL02863:Paxip1	APN	5	27,759,395 (GRCm38)	missense	probably benign	0.30
IGL02903:Paxip1	APN	5	27,748,872 (GRCm38)	missense	probably damaging	1.00
IGL03008:Paxip1	APN	5	27,752,766 (GRCm38)	missense	probably benign	0.01
BB003:Paxip1	UTSW	5	27,791,209 (GRCm38)	missense	unknown
BB013:Paxip1	UTSW	5	27,791,209 (GRCm38)	missense	unknown
R0130:Paxip1	UTSW	5	27,744,185 (GRCm38)	splice site	probably benign
R0331:Paxip1	UTSW	5	27,765,232 (GRCm38)	missense	probably damaging	0.96
R0357:Paxip1	UTSW	5	27,758,623 (GRCm38)	splice site	probably benign
R0370:Paxip1	UTSW	5	27,760,086 (GRCm38)	missense	probably damaging	1.00
R0625:Paxip1	UTSW	5	27,765,942 (GRCm38)	nonsense	probably null
R1969:Paxip1	UTSW	5	27,744,136 (GRCm38)	missense	probably damaging	1.00
R2214:Paxip1	UTSW	5	27,742,501 (GRCm38)	missense	probably damaging	1.00
R3424:Paxip1	UTSW	5	27,775,673 (GRCm38)	utr 3 prime	probably benign
R3808:Paxip1	UTSW	5	27,772,029 (GRCm38)	unclassified	probably benign
R3809:Paxip1	UTSW	5	27,772,029 (GRCm38)	unclassified	probably benign
R3881:Paxip1	UTSW	5	27,748,839 (GRCm38)	missense	probably damaging	1.00
R3882:Paxip1	UTSW	5	27,748,839 (GRCm38)	missense	probably damaging	1.00
R4685:Paxip1	UTSW	5	27,761,677 (GRCm38)	splice site	probably null
R4692:Paxip1	UTSW	5	27,772,097 (GRCm38)	unclassified	probably benign
R4776:Paxip1	UTSW	5	27,765,206 (GRCm38)	missense	probably damaging	1.00
R5093:Paxip1	UTSW	5	27,766,284 (GRCm38)	missense	unknown
R5388:Paxip1	UTSW	5	27,781,455 (GRCm38)	utr 3 prime	probably benign
R5397:Paxip1	UTSW	5	27,772,004 (GRCm38)	unclassified	probably benign
R5553:Paxip1	UTSW	5	27,775,639 (GRCm38)	utr 3 prime	probably benign
R6151:Paxip1	UTSW	5	27,761,618 (GRCm38)	missense	probably damaging	1.00
R6216:Paxip1	UTSW	5	27,766,173 (GRCm38)	missense	unknown
R6276:Paxip1	UTSW	5	27,761,668 (GRCm38)	missense	probably damaging	1.00
R6290:Paxip1	UTSW	5	27,765,578 (GRCm38)	splice site	probably null
R6584:Paxip1	UTSW	5	27,758,452 (GRCm38)	missense	probably damaging	0.98
R6688:Paxip1	UTSW	5	27,744,137 (GRCm38)	missense	probably benign	0.18
R6908:Paxip1	UTSW	5	27,791,224 (GRCm38)	missense	possibly damaging	0.90
R6981:Paxip1	UTSW	5	27,765,768 (GRCm38)	nonsense	probably null
R7252:Paxip1	UTSW	5	27,760,086 (GRCm38)	missense	probably damaging	0.96
R7385:Paxip1	UTSW	5	27,781,420 (GRCm38)	critical splice donor site	probably null
R7585:Paxip1	UTSW	5	27,772,004 (GRCm38)	missense	unknown
R7665:Paxip1	UTSW	5	27,765,738 (GRCm38)	missense	unknown
R7926:Paxip1	UTSW	5	27,791,209 (GRCm38)	missense	unknown
R8169:Paxip1	UTSW	5	27,772,095 (GRCm38)	missense	unknown
R8335:Paxip1	UTSW	5	27,766,124 (GRCm38)	missense	unknown
R8732:Paxip1	UTSW	5	27,744,543 (GRCm38)	missense	probably damaging	1.00
R8790:Paxip1	UTSW	5	27,772,080 (GRCm38)	missense	unknown
X0066:Paxip1	UTSW	5	27,766,018 (GRCm38)	missense	unknown
Z1176:Paxip1	UTSW	5	27,783,729 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGAGACCAGAACCATGATGCC -3'
(R):5'- TGCCCAAGCCTTGCAACTATGAAG -3'

Sequencing Primer
(F):5'- AGAACCATGATGCCCCTTTTTAAC -3'
(R):5'- CGGAAGCTCATGGAGCAC -3'

Posted On

2013-07-24