Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00587:Paxip1'

12914

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 #

IGL00587

Quality Score

Status

Chromosome

Chromosomal Location

27945078-27996689 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 27977550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142578 (fasta)

Gene Model

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

AlphaFold

Q6NZQ4

Predicted Effect

unknown
Transcript: ENSMUST00000002291
AA Change: S171P

SMART Domains

Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: S171P

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo2	A	C	15: 97,143,327 (GRCm39)	M365R	possibly damaging	Het
Atat1	T	C	17: 36,208,775 (GRCm39)	D352G	probably benign	Het
Bbs12	A	G	3: 37,374,346 (GRCm39)	T265A	probably damaging	Het
Cd300c	A	T	11: 114,850,616 (GRCm39)	N62K	probably benign	Het
Cdk5rap3	A	G	11: 96,804,225 (GRCm39)	S43P	probably damaging	Het
Chchd6	A	T	6: 89,546,399 (GRCm39)		probably null	Het
Cr2	C	T	1: 194,836,559 (GRCm39)	R868Q	possibly damaging	Het
Cyp2d9	T	C	15: 82,339,344 (GRCm39)	S126P	possibly damaging	Het
Dsg3	T	A	18: 20,672,711 (GRCm39)	I794N	probably damaging	Het
Fga	A	T	3: 82,937,596 (GRCm39)	S158C	possibly damaging	Het
Gm14240	T	C	2: 155,894,870 (GRCm39)		probably null	Het
Itga1	C	A	13: 115,148,785 (GRCm39)	V279L	probably damaging	Het
Kdm1b	T	C	13: 47,222,016 (GRCm39)	V485A	probably benign	Het
Mfap3l	T	C	8: 61,124,943 (GRCm39)	V395A	probably benign	Het
Nlrp14	T	A	7: 106,780,974 (GRCm39)	V57E	probably benign	Het
P2ry12	A	T	3: 59,125,303 (GRCm39)	I124K	probably damaging	Het
Prkdc	T	C	16: 15,470,222 (GRCm39)		probably benign	Het
Rab28	T	C	5: 41,860,799 (GRCm39)	R52G	probably benign	Het
Rrp15	T	C	1: 186,453,745 (GRCm39)		probably null	Het
Sel1l2	G	A	2: 140,085,864 (GRCm39)	L539F	possibly damaging	Het
Ticam2	T	C	18: 46,693,880 (GRCm39)	E69G	probably benign	Het
Zcchc2	T	A	1: 105,957,993 (GRCm39)	S821R	probably benign	Het
Zcchc4	T	A	5: 52,973,511 (GRCm39)	S379T	probably benign	Het
Zfp53	T	C	17: 21,728,600 (GRCm39)	V211A	probably benign	Het
Zmym2	T	G	14: 57,140,817 (GRCm39)	S219A	possibly damaging	Het

Other mutations in Paxip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06