Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Paxip1'

50108

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

038415-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0130 (G1)

Quality Score

155

Status

Validated (trace)

Chromosome

Chromosomal Location

27945078-27996689 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 27949183 bp (GRCm39)

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: 97.7%
10x: 93.4%
20x: 80.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,994,094 (GRCm39)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Apol7c	A	G	15: 77,410,562 (GRCm39)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Arfip2	A	G	7: 105,288,205 (GRCm39)		probably benign	Het
Atp5mf	A	T	5: 145,124,992 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,569,389 (GRCm39)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,119,990 (GRCm39)	T613A	probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Cenpc1	A	T	5: 86,194,405 (GRCm39)	D120E	probably benign	Het
Chd3	T	A	11: 69,250,656 (GRCm39)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,922,059 (GRCm39)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,585,108 (GRCm39)	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,858,716 (GRCm39)		probably benign	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,142,944 (GRCm39)	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Gde1	A	T	7: 118,294,283 (GRCm39)	F63L	probably benign	Het
Gjc3	A	G	5: 137,956,202 (GRCm39)	S28P	probably benign	Het
Gm10250	G	A	15: 5,150,473 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,740,843 (GRCm39)	L190P	probably damaging	Het
Mki67	T	A	7: 135,298,188 (GRCm39)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,285,990 (GRCm39)	I272F	probably damaging	Het
Myom1	A	T	17: 71,352,750 (GRCm39)	D358V	probably damaging	Het
Nebl	T	C	2: 17,395,737 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,325,417 (GRCm39)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,035,514 (GRCm39)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pld2	T	G	11: 70,445,174 (GRCm39)	N591K	probably benign	Het
Plekha7	A	G	7: 115,769,939 (GRCm39)	M276T	probably damaging	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Prtg	A	G	9: 72,716,998 (GRCm39)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,099,749 (GRCm39)	I88N	probably damaging	Het
Rbfox2	A	G	15: 76,976,057 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,047,233 (GRCm39)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,070,620 (GRCm39)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Tectb	G	T	19: 55,170,393 (GRCm39)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Tiam1	T	C	16: 89,694,642 (GRCm39)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,967,233 (GRCm39)		noncoding transcript	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het

Other mutations in Paxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Paxip1	APN	5	27,977,550 (GRCm39)	utr 3 prime	probably benign
IGL01705:Paxip1	APN	5	27,953,857 (GRCm39)	missense	probably damaging	1.00
IGL01844:Paxip1	APN	5	27,956,036 (GRCm39)	missense	probably benign	0.17
IGL02143:Paxip1	APN	5	27,980,596 (GRCm39)	utr 3 prime	probably benign
IGL02863:Paxip1	APN	5	27,964,393 (GRCm39)	missense	probably benign	0.30
IGL02903:Paxip1	APN	5	27,953,870 (GRCm39)	missense	probably damaging	1.00
IGL03008:Paxip1	APN	5	27,957,764 (GRCm39)	missense	probably benign	0.01
BB003:Paxip1	UTSW	5	27,996,207 (GRCm39)	missense	unknown
BB013:Paxip1	UTSW	5	27,996,207 (GRCm39)	missense	unknown
R0128:Paxip1	UTSW	5	27,949,183 (GRCm39)	splice site	probably benign
R0331:Paxip1	UTSW	5	27,970,230 (GRCm39)	missense	probably damaging	0.96
R0357:Paxip1	UTSW	5	27,963,621 (GRCm39)	splice site	probably benign
R0370:Paxip1	UTSW	5	27,965,084 (GRCm39)	missense	probably damaging	1.00
R0625:Paxip1	UTSW	5	27,970,940 (GRCm39)	nonsense	probably null
R1969:Paxip1	UTSW	5	27,949,134 (GRCm39)	missense	probably damaging	1.00
R2214:Paxip1	UTSW	5	27,947,499 (GRCm39)	missense	probably damaging	1.00
R3424:Paxip1	UTSW	5	27,980,671 (GRCm39)	utr 3 prime	probably benign
R3808:Paxip1	UTSW	5	27,977,027 (GRCm39)	unclassified	probably benign
R3809:Paxip1	UTSW	5	27,977,027 (GRCm39)	unclassified	probably benign
R3881:Paxip1	UTSW	5	27,953,837 (GRCm39)	missense	probably damaging	1.00
R3882:Paxip1	UTSW	5	27,953,837 (GRCm39)	missense	probably damaging	1.00
R4685:Paxip1	UTSW	5	27,966,675 (GRCm39)	splice site	probably null
R4692:Paxip1	UTSW	5	27,977,095 (GRCm39)	unclassified	probably benign
R4776:Paxip1	UTSW	5	27,970,204 (GRCm39)	missense	probably damaging	1.00
R5093:Paxip1	UTSW	5	27,971,282 (GRCm39)	missense	unknown
R5388:Paxip1	UTSW	5	27,986,453 (GRCm39)	utr 3 prime	probably benign
R5397:Paxip1	UTSW	5	27,977,002 (GRCm39)	unclassified	probably benign
R5553:Paxip1	UTSW	5	27,980,637 (GRCm39)	utr 3 prime	probably benign
R6151:Paxip1	UTSW	5	27,966,616 (GRCm39)	missense	probably damaging	1.00
R6216:Paxip1	UTSW	5	27,971,171 (GRCm39)	missense	unknown
R6276:Paxip1	UTSW	5	27,966,666 (GRCm39)	missense	probably damaging	1.00
R6290:Paxip1	UTSW	5	27,970,576 (GRCm39)	splice site	probably null
R6584:Paxip1	UTSW	5	27,963,450 (GRCm39)	missense	probably damaging	0.98
R6688:Paxip1	UTSW	5	27,949,135 (GRCm39)	missense	probably benign	0.18
R6908:Paxip1	UTSW	5	27,996,222 (GRCm39)	missense	possibly damaging	0.90
R6981:Paxip1	UTSW	5	27,970,766 (GRCm39)	nonsense	probably null
R7252:Paxip1	UTSW	5	27,965,084 (GRCm39)	missense	probably damaging	0.96
R7385:Paxip1	UTSW	5	27,986,418 (GRCm39)	critical splice donor site	probably null
R7585:Paxip1	UTSW	5	27,977,002 (GRCm39)	missense	unknown
R7665:Paxip1	UTSW	5	27,970,736 (GRCm39)	missense	unknown
R7926:Paxip1	UTSW	5	27,996,207 (GRCm39)	missense	unknown
R8169:Paxip1	UTSW	5	27,977,093 (GRCm39)	missense	unknown
R8335:Paxip1	UTSW	5	27,971,122 (GRCm39)	missense	unknown
R8732:Paxip1	UTSW	5	27,949,541 (GRCm39)	missense	probably damaging	1.00
R8790:Paxip1	UTSW	5	27,977,078 (GRCm39)	missense	unknown
X0066:Paxip1	UTSW	5	27,971,016 (GRCm39)	missense	unknown
Z1176:Paxip1	UTSW	5	27,988,727 (GRCm39)	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

2013-06-12