Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Paxip1'

538855

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6908 (G1)

Quality Score

137.008

Status

Validated

Chromosome

Chromosomal Location

27740080-27791691 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27791224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 19 (Y19C)

Ref Sequence

ENSEMBL: ENSMUSP00000142578 (fasta)

Gene Model

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

AlphaFold

Q6NZQ4

Predicted Effect

unknown
Transcript: ENSMUST00000002291
AA Change: Y19C

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: Y19C

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

possibly damaging
Transcript: ENSMUST00000196734
AA Change: Y19C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142578
Gene: ENSMUSG00000002221
AA Change: Y19C

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: 98.2%

Validation Efficiency

95% (52/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly 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
BB003:Paxip1	UTSW	5	27791209	missense	unknown
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
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'- TGCCGTACGAACTATTGTAGACC -3'

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

Posted On

2018-11-06