Incidental Mutation 'R3881:Paxip1'
ID 308754
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 040795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3881 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 27945078-27996689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 27953837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 953 (R953Q)
Ref Sequence ENSEMBL: ENSMUSP00000002291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002291]
AlphaFold Q6NZQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000002291
AA Change: R953Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: R953Q

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1145 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik T G 19: 4,548,417 (GRCm39) K44T possibly damaging Het
4933402N03Rik T C 7: 130,740,823 (GRCm39) E131G probably benign Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Cep41 A G 6: 30,658,397 (GRCm39) S201P probably damaging Het
Cep95 A G 11: 106,697,118 (GRCm39) I257V probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cyfip2 A G 11: 46,099,162 (GRCm39) L716P probably damaging Het
Cyp2d34 T A 15: 82,502,818 (GRCm39) Q136L probably benign Het
Def6 T C 17: 28,439,189 (GRCm39) C267R probably damaging Het
Dgat2 G A 7: 98,818,950 (GRCm39) Q69* probably null Het
Dlgap1 T A 17: 71,093,810 (GRCm39) S710R probably damaging Het
Dnah10 T C 5: 124,850,095 (GRCm39) I1539T probably benign Het
Dnah2 T A 11: 69,342,173 (GRCm39) I2932F possibly damaging Het
Enpp2 A G 15: 54,783,088 (GRCm39) S76P probably damaging Het
Esr2 T C 12: 76,214,394 (GRCm39) D19G probably damaging Het
Fam13b A T 18: 34,595,112 (GRCm39) probably null Het
Fbxw14 A T 9: 109,100,262 (GRCm39) V464D possibly damaging Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Gm21961 A G 15: 64,886,716 (GRCm39) probably null Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hps5 A G 7: 46,421,420 (GRCm39) V648A possibly damaging Het
Ints4 A G 7: 97,165,464 (GRCm39) T517A possibly damaging Het
Itpr3 A G 17: 27,332,814 (GRCm39) N1860S probably benign Het
Itsn2 G A 12: 4,684,546 (GRCm39) probably benign Het
Jup A G 11: 100,269,207 (GRCm39) V402A probably benign Het
Letm2 C A 8: 26,083,884 (GRCm39) E116* probably null Het
Ly6c1 T C 15: 74,917,436 (GRCm39) T71A probably benign Het
Mcm3ap G A 10: 76,342,280 (GRCm39) S1591N probably benign Het
Mier2 C T 10: 79,384,584 (GRCm39) probably null Het
Mocs2 T A 13: 114,955,882 (GRCm39) L10* probably null Het
Myo6 A G 9: 80,171,538 (GRCm39) D513G probably damaging Het
Myoz2 T C 3: 122,807,369 (GRCm39) Y147C probably damaging Het
Nin C T 12: 70,089,315 (GRCm39) V1367M probably benign Het
Nr2f6 C T 8: 71,828,675 (GRCm39) A200T probably damaging Het
Obscn C T 11: 58,947,775 (GRCm39) C4418Y probably damaging Het
Or10ak9 A G 4: 118,726,550 (GRCm39) M191V probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or5g26 T A 2: 85,494,769 (GRCm39) H3L probably benign Het
Pcdha1 A T 18: 37,064,454 (GRCm39) I373F possibly damaging Het
Pcdha7 G A 18: 37,108,432 (GRCm39) E486K probably benign Het
Recql5 G A 11: 115,784,780 (GRCm39) P849L probably benign Het
Recql5 G T 11: 115,784,781 (GRCm39) P849T probably benign Het
Rnf180 A T 13: 105,386,915 (GRCm39) M131K possibly damaging Het
Rplp1 A G 9: 61,821,704 (GRCm39) S3P probably benign Het
Rpp38 T A 2: 3,330,283 (GRCm39) R206S probably benign Het
Sdha G T 13: 74,487,311 (GRCm39) P159Q probably damaging Het
Shank2 T C 7: 143,959,121 (GRCm39) V199A probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Timm50 C A 7: 28,010,432 (GRCm39) A41S probably benign Het
Tmbim1 A G 1: 74,329,157 (GRCm39) probably benign Het
Tmprss11a C T 5: 86,593,664 (GRCm39) V29M possibly damaging Het
Ttc28 A T 5: 111,331,106 (GRCm39) H411L probably damaging Het
Ube4b A T 4: 149,449,861 (GRCm39) probably null Het
Zdhhc22 T A 12: 87,030,400 (GRCm39) M183L probably benign Het
Zfp106 A G 2: 120,362,630 (GRCm39) S830P probably benign Het
Other mutations in Paxip1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CCATCAGAGTAAAGAATGTTCCTG -3'
(R):5'- CCCAAGTCACAGGATGAGTGTG -3'

Sequencing Primer
(F):5'- CAGTCTGATCTAGCTACACAGTGAG -3'
(R):5'- CACAGGATGAGTGTGGCTGTG -3'
Posted On 2015-04-17