Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Paxip1'

573014

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

045467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27945078-27996689 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 27986418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002291 (fasta)

Gene Model

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

AlphaFold

Q6NZQ4

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000196734

SMART Domains

Protein: ENSMUSP00000142578
Gene: ENSMUSG00000002221

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	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
R0130: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
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'- ACTCCTTGGAGTTATCTGCTAAGG -3'
(R):5'- TTTCTAAGAACGAGCGGGAG -3'

Sequencing Primer
(F):5'- AGAAATCCTTAGACTAAGTCTGAGTG -3'
(R):5'- ACGAGCGGGAGGGAGTG -3'

Posted On

2019-09-13