Mutagenetix > Incidental Mutation

Incidental Mutation 'BB003:Paxip1'

642213

Institutional Source

Beutler Lab

Gene Symbol

Paxip1

Ensembl Gene

ENSMUSG00000002221

Gene Name

PAX interacting (with transcription-activation domain) protein 1

Synonyms

D5Ertd149e, PTIP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

BB003

Quality Score

148.008

Status

Not validated

Chromosome

Chromosomal Location

27740080-27791691 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27791209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 24 (I24T)

Ref Sequence

ENSEMBL: ENSMUSP00000002291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002291] [ENSMUST00000196734]

AlphaFold

Q6NZQ4

Predicted Effect

unknown
Transcript: ENSMUST00000002291
AA Change: I24T

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: I24T

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

probably benign
Transcript: ENSMUST00000196734
AA Change: I24T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142578
Gene: ENSMUSG00000002221
AA Change: I24T

Domain	Start	End	E-Value	Type
Blast:BRCT	10	83	5e-48	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
BC016579	C	A	16: 45,629,462	D198Y	probably damaging	Het
Cep170	A	G	1: 176,761,413	S549P	probably damaging	Het
Cnih3	T	C	1: 181,450,001	L96P	probably damaging	Het
Cnn2	T	A	10: 79,993,326	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
Cnot10	A	G	9: 114,617,815	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,533,929	Y212*	probably null	Het
Dmxl2	T	C	9: 54,428,042	T665A	probably benign	Het
Dnmt1	C	A	9: 20,907,559	A1609S	unknown	Het
Dzip1	T	C	14: 118,883,499	D682G	probably benign	Het
Fam76a	A	G	4: 132,902,094	L249P	probably damaging	Het
Fgf10	T	C	13: 118,789,216	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gm340	T	C	19: 41,582,569	F67S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Itln1	G	A	1: 171,531,693	T73I	probably benign	Het
Jkamp	T	C	12: 72,094,816	Y197H	probably damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lmf2	G	A	15: 89,352,421	P514L	probably damaging	Het
Lmntd2	G	T	7: 141,210,345	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,145,722	S225P	probably damaging	Het
Mbd5	T	C	2: 49,256,323	Y182H	probably damaging	Het
Mki67	A	G	7: 135,697,140	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Myh8	C	T	11: 67,278,906	P17L	possibly damaging	Het
Myt1l	T	A	12: 29,811,652	D144E	unknown	Het
Nfatc1	T	C	18: 80,697,666	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,060,752	L418F	probably damaging	Het
Pdcl	C	T	2: 37,352,237	G167E	probably damaging	Het
Pdcl	A	C	2: 37,352,239	S166R	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Qsox1	C	T	1: 155,812,787	G5S	unknown	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Sass6	T	A	3: 116,628,770	S641T	possibly damaging	Het
Six1	T	C	12: 73,043,809	N194S	probably benign	Het
Tagap	T	C	17: 7,926,938		probably null	Het
Tiparp	T	C	3: 65,553,525	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,020,464	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,452,850	R352L	probably benign	Het
Tslp	A	G	18: 32,817,193	E105G	possibly damaging	Het
Ttc41	A	G	10: 86,776,047	E1093G	probably benign	Het
Ush2a	G	A	1: 188,728,600	R2686H	probably benign	Het
Usp54	A	T	14: 20,576,968	Y541N	probably damaging	Het

Other mutations in Paxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Paxip1	APN	5	27772552	utr 3 prime	probably benign
IGL01705:Paxip1	APN	5	27748859	missense	probably damaging	1.00
IGL01844:Paxip1	APN	5	27751038	missense	probably benign	0.17
IGL02143:Paxip1	APN	5	27775598	utr 3 prime	probably benign
IGL02863:Paxip1	APN	5	27759395	missense	probably benign	0.30
IGL02903:Paxip1	APN	5	27748872	missense	probably damaging	1.00
IGL03008:Paxip1	APN	5	27752766	missense	probably benign	0.01
BB013:Paxip1	UTSW	5	27791209	missense	unknown
R0128:Paxip1	UTSW	5	27744185	splice site	probably benign
R0130:Paxip1	UTSW	5	27744185	splice site	probably benign
R0331:Paxip1	UTSW	5	27765232	missense	probably damaging	0.96
R0357:Paxip1	UTSW	5	27758623	splice site	probably benign
R0370:Paxip1	UTSW	5	27760086	missense	probably damaging	1.00
R0625:Paxip1	UTSW	5	27765942	nonsense	probably null
R1969:Paxip1	UTSW	5	27744136	missense	probably damaging	1.00
R2214:Paxip1	UTSW	5	27742501	missense	probably damaging	1.00
R3424:Paxip1	UTSW	5	27775673	utr 3 prime	probably benign
R3808:Paxip1	UTSW	5	27772029	unclassified	probably benign
R3809:Paxip1	UTSW	5	27772029	unclassified	probably benign
R3881:Paxip1	UTSW	5	27748839	missense	probably damaging	1.00
R3882:Paxip1	UTSW	5	27748839	missense	probably damaging	1.00
R4685:Paxip1	UTSW	5	27761677	splice site	probably null
R4692:Paxip1	UTSW	5	27772097	unclassified	probably benign
R4776:Paxip1	UTSW	5	27765206	missense	probably damaging	1.00
R5093:Paxip1	UTSW	5	27766284	missense	unknown
R5388:Paxip1	UTSW	5	27781455	utr 3 prime	probably benign
R5397:Paxip1	UTSW	5	27772004	unclassified	probably benign
R5553:Paxip1	UTSW	5	27775639	utr 3 prime	probably benign
R6151:Paxip1	UTSW	5	27761618	missense	probably damaging	1.00
R6216:Paxip1	UTSW	5	27766173	missense	unknown
R6276:Paxip1	UTSW	5	27761668	missense	probably damaging	1.00
R6290:Paxip1	UTSW	5	27765578	splice site	probably null
R6584:Paxip1	UTSW	5	27758452	missense	probably damaging	0.98
R6688:Paxip1	UTSW	5	27744137	missense	probably benign	0.18
R6908:Paxip1	UTSW	5	27791224	missense	possibly damaging	0.90
R6981:Paxip1	UTSW	5	27765768	nonsense	probably null
R7252:Paxip1	UTSW	5	27760086	missense	probably damaging	0.96
R7385:Paxip1	UTSW	5	27781420	critical splice donor site	probably null
R7585:Paxip1	UTSW	5	27772004	missense	unknown
R7665:Paxip1	UTSW	5	27765738	missense	unknown
R7926:Paxip1	UTSW	5	27791209	missense	unknown
R8169:Paxip1	UTSW	5	27772095	missense	unknown
R8335:Paxip1	UTSW	5	27766124	missense	unknown
R8732:Paxip1	UTSW	5	27744543	missense	probably damaging	1.00
R8790:Paxip1	UTSW	5	27772080	missense	unknown
X0066:Paxip1	UTSW	5	27766018	missense	unknown
Z1176:Paxip1	UTSW	5	27783729	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGACCGTGTAAGCAAGGGTAC -3'
(R):5'- GTGCCGTACGAACTATTGTAGAC -3'

Sequencing Primer
(F):5'- TTGGCAAGGGACACGCTC -3'
(R):5'- GAACTATTGTAGACCATCAGCACTG -3'

Posted On

2020-08-01