Incidental Mutation 'R6151:Paxip1'
ID 489248
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 044298-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6151 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 27945078-27996689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27966616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 637 (H637N)
Ref Sequence ENSEMBL: ENSMUSP00000002291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002291]
AlphaFold Q6NZQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000002291
AA Change: H637N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: H637N

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: ENSMUST00000196641
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,099,216 (GRCm39) probably null Het
4930550C14Rik G T 9: 53,325,683 (GRCm39) R73S probably damaging Het
Abca1 A G 4: 53,085,261 (GRCm39) V517A probably benign Het
Adck5 A T 15: 76,478,887 (GRCm39) K370N possibly damaging Het
Akap6 A C 12: 53,072,575 (GRCm39) D981A probably damaging Het
Apbb1 G A 7: 105,223,459 (GRCm39) R51* probably null Het
Arhgap23 A G 11: 97,391,238 (GRCm39) M1252V probably benign Het
Arhgef1 A G 7: 24,617,367 (GRCm39) T354A probably benign Het
Arid1a G T 4: 133,412,287 (GRCm39) Q1636K unknown Het
Asmt C T X: 169,110,202 (GRCm39) A237V possibly damaging Het
Brat1 T A 5: 140,691,716 (GRCm39) C43S probably benign Het
Cd36 T C 5: 18,000,593 (GRCm39) Y370C probably damaging Het
Ceacam12 A T 7: 17,803,030 (GRCm39) L145F probably benign Het
Col24a1 C T 3: 145,019,815 (GRCm39) T62I probably damaging Het
Col6a3 G T 1: 90,741,475 (GRCm39) N652K possibly damaging Het
Dcbld1 T C 10: 52,180,756 (GRCm39) L140P probably damaging Het
Dhrs13 G A 11: 77,927,808 (GRCm39) C218Y probably damaging Het
Diaph1 T G 18: 37,986,406 (GRCm39) E1158A probably damaging Het
Emp2 A C 16: 10,110,145 (GRCm39) F20C probably damaging Het
Enpep T C 3: 129,126,067 (GRCm39) I22V possibly damaging Het
Epha2 A G 4: 141,045,791 (GRCm39) probably null Het
Eprs1 G T 1: 185,139,951 (GRCm39) probably null Het
Etl4 T A 2: 20,718,171 (GRCm39) I304N probably damaging Het
Exoc3l2 C A 7: 19,225,670 (GRCm39) S89* probably null Het
F5 A T 1: 164,009,204 (GRCm39) I325F probably damaging Het
F5 G A 1: 164,017,756 (GRCm39) C611Y probably damaging Het
Fam133b A T 5: 3,609,133 (GRCm39) S116C probably null Het
Fam13b A T 18: 34,627,330 (GRCm39) D190E probably damaging Het
Fam169a T G 13: 97,230,138 (GRCm39) Y58D probably damaging Het
Far1 G A 7: 113,160,603 (GRCm39) R383H possibly damaging Het
Fnbp1l T C 3: 122,364,579 (GRCm39) K52R possibly damaging Het
Foxj3 C A 4: 119,480,468 (GRCm39) Q469K unknown Het
Frs3 A T 17: 48,000,013 (GRCm39) probably benign Het
Gdpd3 A G 7: 126,374,674 (GRCm39) S290G probably benign Het
Gmip T A 8: 70,269,735 (GRCm39) L610Q probably damaging Het
Gprc5c T A 11: 114,754,851 (GRCm39) I176N probably damaging Het
Grm3 A G 5: 9,561,556 (GRCm39) F765L probably damaging Het
Hhat A T 1: 192,442,065 (GRCm39) L2Q probably damaging Het
Hspbap1 T C 16: 35,637,592 (GRCm39) S214P probably damaging Het
Ighv1-62-3 C A 12: 115,424,909 (GRCm39) V21F probably damaging Het
Kcnj15 A T 16: 95,096,527 (GRCm39) K50* probably null Het
Kidins220 T C 12: 25,106,908 (GRCm39) S1454P possibly damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Klhl23 T G 2: 69,655,198 (GRCm39) L356R probably damaging Het
Kndc1 A T 7: 139,501,129 (GRCm39) D806V probably benign Het
Krt26 T C 11: 99,228,315 (GRCm39) E139G probably benign Het
Lefty1 T C 1: 180,762,681 (GRCm39) F3L unknown Het
Madd A C 2: 90,995,802 (GRCm39) Y853* probably null Het
Map1a T A 2: 121,120,304 (GRCm39) D63E probably benign Het
Mdn1 T A 4: 32,684,735 (GRCm39) V815E probably damaging Het
Mettl3 A G 14: 52,532,477 (GRCm39) Y569H probably damaging Het
Mknk2 T C 10: 80,504,859 (GRCm39) probably null Het
Mpp3 C A 11: 101,899,392 (GRCm39) R376S probably benign Het
Ncoa4-ps T G 12: 119,224,841 (GRCm39) noncoding transcript Het
Nup160 T A 2: 90,520,449 (GRCm39) Y293* probably null Het
Nup58 A T 14: 60,482,065 (GRCm39) F100I possibly damaging Het
Nxpe2 A C 9: 48,237,491 (GRCm39) L255V probably benign Het
Or10ab4 A G 7: 107,655,106 (GRCm39) I306V probably benign Het
Or1e30 T A 11: 73,678,521 (GRCm39) Y252* probably null Het
Or2l5 A T 16: 19,334,281 (GRCm39) L35Q probably damaging Het
Or4d11 T C 19: 12,014,100 (GRCm39) E2G probably benign Het
Padi3 A T 4: 140,523,705 (GRCm39) D248E probably damaging Het
Pde4b T A 4: 102,458,748 (GRCm39) M296K probably damaging Het
Pkd1 A G 17: 24,794,580 (GRCm39) H2089R probably benign Het
Plaat5 C T 19: 7,596,656 (GRCm39) P148S probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Rhebl1 T C 15: 98,776,160 (GRCm39) I165V probably benign Het
Rock1 A T 18: 10,106,426 (GRCm39) V481E possibly damaging Het
Rtca T A 3: 116,301,476 (GRCm39) T24S probably benign Het
Serpina3c T A 12: 104,118,327 (GRCm39) I4F possibly damaging Het
Serpina3j C A 12: 104,283,649 (GRCm39) A249E possibly damaging Het
Slc38a9 A G 13: 112,825,910 (GRCm39) N116S probably damaging Het
Slco2b1 C T 7: 99,339,770 (GRCm39) V58I possibly damaging Het
Slfn8 T A 11: 82,908,147 (GRCm39) Y132F probably damaging Het
Smg6 T G 11: 75,047,033 (GRCm39) I1242S probably damaging Het
Tap2 G T 17: 34,431,021 (GRCm39) V374L probably benign Het
Tbc1d10b G A 7: 126,807,168 (GRCm39) T123M probably damaging Het
Tenm2 A C 11: 35,899,610 (GRCm39) V2516G probably damaging Het
Tenm3 C T 8: 48,848,608 (GRCm39) R12Q probably damaging Het
Tmem130 T A 5: 144,674,661 (GRCm39) M355L probably benign Het
Tns4 C T 11: 98,966,376 (GRCm39) S433N probably benign Het
Traip G T 9: 107,847,818 (GRCm39) probably null Het
Trmo G A 4: 46,389,390 (GRCm39) R2C probably damaging Het
Ttn A T 2: 76,774,504 (GRCm39) I2134N probably damaging Het
Uba1y A G Y: 825,984 (GRCm39) D380G probably benign Het
Ube2t T A 1: 134,895,698 (GRCm39) probably null Het
Ugdh A T 5: 65,574,924 (GRCm39) Y367* probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vmn1r84 G T 7: 12,095,841 (GRCm39) T284K possibly damaging Het
Vmn1r91 T A 7: 19,835,360 (GRCm39) F93Y probably benign Het
Vmn2r77 T A 7: 86,450,878 (GRCm39) Y255N probably benign Het
Vmn2r96 A T 17: 18,804,221 (GRCm39) Q490H probably benign Het
Vwa2 A G 19: 56,891,897 (GRCm39) probably null Het
Vwf A G 6: 125,634,028 (GRCm39) K169E unknown Het
Zc3h7b G C 15: 81,662,911 (GRCm39) probably null Het
Zfp458 T A 13: 67,405,662 (GRCm39) H259L possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp804b A G 5: 6,819,910 (GRCm39) V1051A probably benign Het
Zfp998 A T 13: 66,579,740 (GRCm39) C248S probably damaging 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
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
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'- CAGTCAAGGCTGCTGGGA -3'
(R):5'- TCTGCGAATGGGGAGTGC -3'

Sequencing Primer
(F):5'- CTGAAGTTTGGGACTACTGACCAC -3'
(R):5'- AATGGGGAGTGCGGCAC -3'
Posted On 2017-10-10