Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03008:Paxip1'

407625

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

27945078-27996689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27957764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 864 (V864A)

Ref Sequence

ENSEMBL: ENSMUSP00000002291 (fasta)

Gene Model

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

AlphaFold

Q6NZQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000002291
AA Change: V864A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: V864A

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

Coding Region Coverage

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,612,337 (GRCm39)	M1I	probably null	Het
Ankrd44	T	C	1: 54,805,968 (GRCm39)	H146R	probably damaging	Het
Bst1	A	G	5: 43,983,604 (GRCm39)		probably null	Het
Btbd8	T	G	5: 107,639,464 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,480,416 (GRCm39)	I211F	probably damaging	Het
Cenpj	G	T	14: 56,764,406 (GRCm39)	D1335E	probably benign	Het
Clpx	G	A	9: 65,230,057 (GRCm39)	V502I	possibly damaging	Het
Cntnap4	T	C	8: 113,500,222 (GRCm39)	S505P	probably benign	Het
Cog2	T	C	8: 125,262,131 (GRCm39)		probably benign	Het
Cped1	A	G	6: 22,233,601 (GRCm39)	Q819R	probably benign	Het
Cspg4	A	G	9: 56,805,759 (GRCm39)	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,679,368 (GRCm39)	R359Q	probably damaging	Het
Cul9	A	G	17: 46,813,623 (GRCm39)		probably benign	Het
Dab1	G	T	4: 104,584,777 (GRCm39)	V306F	probably damaging	Het
Dysf	A	G	6: 84,050,876 (GRCm39)	I438V	probably benign	Het
Eif4g3	G	T	4: 137,847,699 (GRCm39)	G380W	probably damaging	Het
Exd1	T	A	2: 119,350,862 (GRCm39)	K466N	probably benign	Het
Eya3	A	C	4: 132,434,294 (GRCm39)	D325A	probably damaging	Het
Fmn1	A	G	2: 113,195,445 (GRCm39)	T382A	unknown	Het
Fry	T	A	5: 150,269,021 (GRCm39)	D106E	possibly damaging	Het
Gm21957	T	A	7: 124,818,733 (GRCm39)		noncoding transcript	Het
Gm44511	A	G	6: 128,761,059 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,155,982 (GRCm39)	I983V	probably benign	Het
Lrpprc	A	T	17: 85,058,675 (GRCm39)	D5E	probably benign	Het
Lrrc37	T	C	11: 103,511,293 (GRCm39)	E225G	unknown	Het
Ltbp4	G	T	7: 27,023,789 (GRCm39)	N747K	probably damaging	Het
Minar1	A	G	9: 89,478,731 (GRCm39)	Y772H	probably damaging	Het
Mlh3	T	C	12: 85,287,625 (GRCm39)	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,229,185 (GRCm39)	C63S	possibly damaging	Het
Myh11	T	A	16: 14,022,617 (GRCm39)	M1661L	probably benign	Het
Myo1c	T	C	11: 75,549,240 (GRCm39)	M137T	probably benign	Het
Myocd	A	C	11: 65,078,392 (GRCm39)	L340V	probably damaging	Het
Napsa	A	T	7: 44,235,220 (GRCm39)	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,448,516 (GRCm39)	Q240K	probably benign	Het
Npepps	A	C	11: 97,128,984 (GRCm39)	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,304,738 (GRCm39)	E275V	probably benign	Het
Ofd1	T	C	X: 165,192,530 (GRCm39)	D501G	probably benign	Het
Or13a19	T	C	7: 139,903,445 (GRCm39)	Y278H	probably damaging	Het
Or4f6	A	G	2: 111,838,868 (GRCm39)	I221T	possibly damaging	Het
Or5p79	T	G	7: 108,221,490 (GRCm39)	L157R	probably damaging	Het
Or8k41	A	T	2: 86,313,678 (GRCm39)	M136K	probably damaging	Het
P2ry1	A	T	3: 60,910,947 (GRCm39)	T29S	probably benign	Het
Papss1	T	C	3: 131,290,860 (GRCm39)	V201A	possibly damaging	Het
Pcdhgc5	T	A	18: 37,954,887 (GRCm39)	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,694,023 (GRCm39)	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,544,690 (GRCm39)	I27T	probably damaging	Het
Rnf10	G	T	5: 115,389,355 (GRCm39)	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,392,855 (GRCm39)	S246P	probably damaging	Het
Sertad2	G	T	11: 20,597,798 (GRCm39)		probably benign	Het
Slc22a27	A	G	19: 7,887,067 (GRCm39)	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,782,058 (GRCm39)	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,748,138 (GRCm39)	F225I	probably benign	Het
Slc6a3	G	A	13: 73,706,404 (GRCm39)		probably null	Het
Smcr8	A	G	11: 60,669,287 (GRCm39)	E145G	probably damaging	Het
Spen	A	T	4: 141,203,448 (GRCm39)	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stag1	A	T	9: 100,658,844 (GRCm39)	N144Y	probably damaging	Het
Strada	T	C	11: 106,061,783 (GRCm39)	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r138	A	C	6: 40,590,116 (GRCm39)	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,733,642 (GRCm39)	K106*	probably null	Het
Trbv13-1	A	G	6: 41,093,229 (GRCm39)	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,165,932 (GRCm39)	V218A	probably benign	Het
Ttn	G	A	2: 76,611,203 (GRCm39)	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,560,282 (GRCm39)	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,477,908 (GRCm39)	M168V	probably benign	Het
Wdr11	T	C	7: 129,208,715 (GRCm39)		probably benign	Het
Wipf2	T	C	11: 98,783,554 (GRCm39)		probably benign	Het
Zranb2	T	A	3: 157,252,302 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02