Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Paxip1'

591849

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27740080-27791691 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27765738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 538 (M538L)

Ref Sequence

ENSEMBL: ENSMUSP00000002291 (fasta)

Gene Model

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

AlphaFold

Q6NZQ4

Predicted Effect

unknown
Transcript: ENSMUST00000002291
AA Change: M538L

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: M538L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	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
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
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
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'- ACTTGATAGGCGCCATGCTC -3'
(R):5'- ATCGTCCTCAACAGCAGCTG -3'

Sequencing Primer
(F):5'- ACGCAAGCTTGTAACTTGTGAG -3'
(R):5'- AGCAGCTGCAGCCATTTCAG -3'

Posted On

2019-11-12