Incidental Mutation 'R2045:Trp53bp1'
ID 221772
Institutional Source Beutler Lab
Gene Symbol Trp53bp1
Ensembl Gene ENSMUSG00000043909
Gene Name transformation related protein 53 binding protein 1
Synonyms 53BP1, p53BP1
MMRRC Submission 040052-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2045 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 121023762-121101888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121034964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 108 (A108S)
Ref Sequence ENSEMBL: ENSMUSP00000117548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000154426]
AlphaFold P70399
Predicted Effect probably benign
Transcript: ENSMUST00000110647
AA Change: A1589S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: A1589S

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 1031 1042 N/A INTRINSIC
low complexity region 1099 1112 N/A INTRINSIC
low complexity region 1260 1272 N/A INTRINSIC
low complexity region 1290 1332 N/A INTRINSIC
Pfam:53-BP1_Tudor 1430 1551 2.5e-80 PFAM
low complexity region 1581 1601 N/A INTRINSIC
BRCT 1673 1785 7.13e-1 SMART
BRCT 1813 1901 1.03e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110648
AA Change: A1639S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: A1639S

DomainStartEndE-ValueType
low complexity region 136 149 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 647 661 N/A INTRINSIC
low complexity region 1031 1042 N/A INTRINSIC
low complexity region 1099 1112 N/A INTRINSIC
low complexity region 1260 1272 N/A INTRINSIC
low complexity region 1290 1332 N/A INTRINSIC
low complexity region 1389 1409 N/A INTRINSIC
Pfam:53-BP1_Tudor 1480 1601 1.5e-80 PFAM
low complexity region 1631 1651 N/A INTRINSIC
BRCT 1723 1835 7.13e-1 SMART
BRCT 1863 1951 1.03e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124411
Predicted Effect probably benign
Transcript: ENSMUST00000124554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135890
Predicted Effect probably benign
Transcript: ENSMUST00000147540
Predicted Effect probably benign
Transcript: ENSMUST00000154426
AA Change: A108S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117548
Gene: ENSMUSG00000043909
AA Change: A108S

DomainStartEndE-ValueType
Pfam:53-BP1_Tudor 1 70 2.5e-44 PFAM
low complexity region 100 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147554
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (74/74)
MGI Phenotype PHENOTYPE: Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C T 19: 34,220,799 (GRCm39) G303E probably damaging Het
Adamts1 A T 16: 85,592,864 (GRCm39) Y515N probably damaging Het
Ankef1 T C 2: 136,396,658 (GRCm39) V695A probably benign Het
Ankrd63 C A 2: 118,533,834 (GRCm39) probably benign Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Atf2 A C 2: 73,693,552 (GRCm39) D3E probably damaging Het
Atp5pb T C 3: 105,851,190 (GRCm39) probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bms1 A C 6: 118,369,588 (GRCm39) L960W probably damaging Het
Cacna1c A G 6: 118,633,098 (GRCm39) V977A probably damaging Het
Cadps2 A G 6: 23,839,121 (GRCm39) S6P possibly damaging Het
Capn8 A G 1: 182,440,951 (GRCm39) T462A probably benign Het
Cd226 T C 18: 89,225,486 (GRCm39) S128P probably benign Het
Cd33 G T 7: 43,179,316 (GRCm39) H278N probably benign Het
Cdh1 T C 8: 107,392,814 (GRCm39) probably benign Het
Cfap54 T C 10: 92,874,671 (GRCm39) probably null Het
Chit1 A G 1: 134,078,882 (GRCm39) I397M probably benign Het
Cic C A 7: 24,970,961 (GRCm39) Q231K possibly damaging Het
Clca4b A G 3: 144,630,924 (GRCm39) V312A probably damaging Het
Cngb1 T A 8: 96,023,713 (GRCm39) probably null Het
Cyfip2 T C 11: 46,140,616 (GRCm39) I430V probably benign Het
Dnah12 A G 14: 26,503,485 (GRCm39) E1613G probably null Het
Dock2 T C 11: 34,244,106 (GRCm39) probably null Het
Dync2h1 A T 9: 7,160,171 (GRCm39) F646I probably damaging Het
Eef1b2 A T 1: 63,218,646 (GRCm39) K144* probably null Het
Erap1 T C 13: 74,817,569 (GRCm39) V137A probably benign Het
Far1 A T 7: 113,138,478 (GRCm39) probably null Het
Fbn2 A T 18: 58,223,730 (GRCm39) C807S probably damaging Het
Fgfr1 A G 8: 26,048,231 (GRCm39) K209R probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Frem2 A T 3: 53,443,165 (GRCm39) V2533D probably damaging Het
Hip1r T C 5: 124,138,794 (GRCm39) M839T probably benign Het
Igfbp2 A G 1: 72,891,310 (GRCm39) S303G probably benign Het
Insyn2a T G 7: 134,520,159 (GRCm39) K124Q probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itgb3 T G 11: 104,514,239 (GRCm39) S27A probably benign Het
Kif21b G A 1: 136,088,051 (GRCm39) D1015N probably damaging Het
Krt7 A T 15: 101,321,365 (GRCm39) probably null Het
Krtdap T A 7: 30,490,010 (GRCm39) F80L probably benign Het
Lcp1 A T 14: 75,437,841 (GRCm39) T84S probably benign Het
Lipi G A 16: 75,347,087 (GRCm39) T444I probably damaging Het
Lrguk A T 6: 34,048,003 (GRCm39) E316V probably damaging Het
Lypd1 G A 1: 125,838,272 (GRCm39) probably benign Het
Med12l A T 3: 59,169,731 (GRCm39) K1632* probably null Het
Mrgpra9 A T 7: 46,885,583 (GRCm39) M28K probably benign Het
Mylk A G 16: 34,774,023 (GRCm39) K1291E probably benign Het
Nek4 T A 14: 30,675,880 (GRCm39) W72R probably damaging Het
Nudt8 T C 19: 4,051,899 (GRCm39) V170A probably damaging Het
Oosp3 T A 19: 11,676,733 (GRCm39) Y31N probably benign Het
Padi2 A T 4: 140,665,241 (GRCm39) R449W probably damaging Het
Pcf11 G T 7: 92,311,087 (GRCm39) N300K probably damaging Het
Pcsk5 T C 19: 17,558,508 (GRCm39) D633G possibly damaging Het
Phlpp2 T A 8: 110,634,232 (GRCm39) W271R probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pkhd1l1 A T 15: 44,343,050 (GRCm39) N176Y probably damaging Het
Pop5 T G 5: 115,376,271 (GRCm39) V33G possibly damaging Het
Prkag2 A G 5: 25,152,580 (GRCm39) F175L possibly damaging Het
Ptpn22 T A 3: 103,781,337 (GRCm39) D79E possibly damaging Het
Rab32 T G 10: 10,426,577 (GRCm39) D123A probably damaging Het
Rnpc3 T C 3: 113,402,009 (GRCm39) K513E possibly damaging Het
Senp1 A T 15: 97,957,825 (GRCm39) F358I possibly damaging Het
Sft2d2 A G 1: 165,012,647 (GRCm39) L83P probably damaging Het
Slc9c1 G A 16: 45,400,613 (GRCm39) R741H probably damaging Het
Smad4 A T 18: 73,782,877 (GRCm39) Y352* probably null Het
Tamm41 T A 6: 114,993,056 (GRCm39) Q232H probably benign Het
Tbx6 T A 7: 126,382,055 (GRCm39) L131Q probably damaging Het
Trappc10 T C 10: 78,045,313 (GRCm39) probably benign Het
Tut7 T C 13: 59,948,470 (GRCm39) Y215C probably damaging Het
Unc13b G A 4: 43,091,266 (GRCm39) V31M probably damaging Het
Usp24 T C 4: 106,258,177 (GRCm39) M1525T possibly damaging Het
Vax2 G A 6: 83,688,252 (GRCm39) probably benign Het
Vcan T A 13: 89,839,104 (GRCm39) I2147L probably benign Het
Zbtb7a C A 10: 80,980,244 (GRCm39) A146E probably benign Het
Zfp287 A G 11: 62,618,395 (GRCm39) L157P probably damaging Het
Other mutations in Trp53bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Trp53bp1 APN 2 121,087,060 (GRCm39) missense possibly damaging 0.69
IGL00690:Trp53bp1 APN 2 121,066,476 (GRCm39) missense probably damaging 1.00
IGL00922:Trp53bp1 APN 2 121,038,963 (GRCm39) missense probably damaging 0.96
IGL01475:Trp53bp1 APN 2 121,100,800 (GRCm39) splice site probably null
IGL01639:Trp53bp1 APN 2 121,033,173 (GRCm39) missense possibly damaging 0.51
IGL01662:Trp53bp1 APN 2 121,066,506 (GRCm39) missense probably damaging 1.00
IGL01757:Trp53bp1 APN 2 121,041,785 (GRCm39) missense probably damaging 0.99
IGL01829:Trp53bp1 APN 2 121,046,377 (GRCm39) missense probably benign 0.39
IGL02247:Trp53bp1 APN 2 121,067,070 (GRCm39) missense probably damaging 1.00
IGL02349:Trp53bp1 APN 2 121,029,555 (GRCm39) missense probably damaging 1.00
IGL02391:Trp53bp1 APN 2 121,033,191 (GRCm39) missense possibly damaging 0.67
chives UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
concur UTSW 2 121,100,800 (GRCm39) splice site probably null
confirmation UTSW 2 121,035,594 (GRCm39) critical splice acceptor site probably null
Infra UTSW 2 121,077,980 (GRCm39) critical splice donor site probably null
Legume UTSW 2 121,029,523 (GRCm39) missense probably damaging 0.99
lentil UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
lentil2 UTSW 2 121,038,368 (GRCm39) missense probably damaging 1.00
Profundus UTSW 2 121,038,284 (GRCm39) missense probably damaging 1.00
split_pea UTSW 2 121,059,087 (GRCm39) nonsense probably null
verily UTSW 2 121,041,794 (GRCm39) missense probably damaging 1.00
PIT1430001:Trp53bp1 UTSW 2 121,101,756 (GRCm39) missense probably damaging 1.00
R0045:Trp53bp1 UTSW 2 121,034,978 (GRCm39) missense probably benign
R0060:Trp53bp1 UTSW 2 121,035,006 (GRCm39) missense probably damaging 1.00
R0060:Trp53bp1 UTSW 2 121,035,006 (GRCm39) missense probably damaging 1.00
R0103:Trp53bp1 UTSW 2 121,067,240 (GRCm39) missense possibly damaging 0.92
R0103:Trp53bp1 UTSW 2 121,067,240 (GRCm39) missense possibly damaging 0.92
R0281:Trp53bp1 UTSW 2 121,100,718 (GRCm39) missense probably damaging 1.00
R0386:Trp53bp1 UTSW 2 121,035,424 (GRCm39) missense probably damaging 1.00
R0427:Trp53bp1 UTSW 2 121,066,498 (GRCm39) missense probably damaging 1.00
R0505:Trp53bp1 UTSW 2 121,100,450 (GRCm39) missense probably damaging 0.99
R0522:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0523:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0525:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0543:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0559:Trp53bp1 UTSW 2 121,058,282 (GRCm39) missense probably damaging 1.00
R0573:Trp53bp1 UTSW 2 121,058,653 (GRCm39) splice site probably benign
R0593:Trp53bp1 UTSW 2 121,101,009 (GRCm39) missense possibly damaging 0.95
R0648:Trp53bp1 UTSW 2 121,066,188 (GRCm39) missense probably benign 0.20
R0680:Trp53bp1 UTSW 2 121,082,349 (GRCm39) missense probably null 0.13
R0732:Trp53bp1 UTSW 2 121,078,745 (GRCm39) missense probably null 0.96
R0905:Trp53bp1 UTSW 2 121,034,799 (GRCm39) splice site probably benign
R1377:Trp53bp1 UTSW 2 121,101,123 (GRCm39) missense probably damaging 1.00
R1415:Trp53bp1 UTSW 2 121,066,665 (GRCm39) missense probably damaging 1.00
R1725:Trp53bp1 UTSW 2 121,082,481 (GRCm39) missense possibly damaging 0.46
R1971:Trp53bp1 UTSW 2 121,035,517 (GRCm39) missense probably damaging 1.00
R2143:Trp53bp1 UTSW 2 121,046,545 (GRCm39) missense probably benign 0.00
R2282:Trp53bp1 UTSW 2 121,100,754 (GRCm39) nonsense probably null
R2296:Trp53bp1 UTSW 2 121,039,728 (GRCm39) missense possibly damaging 0.96
R3106:Trp53bp1 UTSW 2 121,067,133 (GRCm39) missense probably damaging 1.00
R3792:Trp53bp1 UTSW 2 121,030,810 (GRCm39) missense probably damaging 1.00
R3793:Trp53bp1 UTSW 2 121,030,810 (GRCm39) missense probably damaging 1.00
R3946:Trp53bp1 UTSW 2 121,059,107 (GRCm39) missense probably damaging 0.99
R4001:Trp53bp1 UTSW 2 121,035,566 (GRCm39) missense probably damaging 1.00
R4327:Trp53bp1 UTSW 2 121,087,131 (GRCm39) missense probably damaging 1.00
R4585:Trp53bp1 UTSW 2 121,038,432 (GRCm39) missense probably damaging 1.00
R4630:Trp53bp1 UTSW 2 121,038,368 (GRCm39) missense probably damaging 1.00
R4744:Trp53bp1 UTSW 2 121,041,794 (GRCm39) missense probably damaging 1.00
R4751:Trp53bp1 UTSW 2 121,058,290 (GRCm39) missense probably damaging 1.00
R4754:Trp53bp1 UTSW 2 121,038,360 (GRCm39) missense probably damaging 1.00
R4755:Trp53bp1 UTSW 2 121,059,087 (GRCm39) nonsense probably null
R4850:Trp53bp1 UTSW 2 121,035,594 (GRCm39) critical splice acceptor site probably null
R4870:Trp53bp1 UTSW 2 121,087,122 (GRCm39) missense probably damaging 1.00
R4879:Trp53bp1 UTSW 2 121,033,084 (GRCm39) missense probably damaging 0.99
R4924:Trp53bp1 UTSW 2 121,051,701 (GRCm39) nonsense probably null
R4962:Trp53bp1 UTSW 2 121,101,027 (GRCm39) missense probably benign 0.12
R5019:Trp53bp1 UTSW 2 121,100,800 (GRCm39) splice site probably null
R5111:Trp53bp1 UTSW 2 121,041,868 (GRCm39) missense probably damaging 0.99
R5149:Trp53bp1 UTSW 2 121,046,598 (GRCm39) missense probably benign 0.00
R5252:Trp53bp1 UTSW 2 121,074,464 (GRCm39) missense probably benign 0.40
R5533:Trp53bp1 UTSW 2 121,038,227 (GRCm39) missense probably damaging 1.00
R5642:Trp53bp1 UTSW 2 121,067,143 (GRCm39) missense probably benign 0.00
R5773:Trp53bp1 UTSW 2 121,074,395 (GRCm39) missense probably damaging 1.00
R5819:Trp53bp1 UTSW 2 121,038,873 (GRCm39) nonsense probably null
R5886:Trp53bp1 UTSW 2 121,035,502 (GRCm39) missense probably damaging 1.00
R5908:Trp53bp1 UTSW 2 121,067,304 (GRCm39) missense probably benign 0.06
R6012:Trp53bp1 UTSW 2 121,087,083 (GRCm39) missense probably benign 0.07
R6351:Trp53bp1 UTSW 2 121,100,426 (GRCm39) missense probably damaging 1.00
R6406:Trp53bp1 UTSW 2 121,101,093 (GRCm39) missense probably damaging 0.99
R6575:Trp53bp1 UTSW 2 121,059,084 (GRCm39) missense probably damaging 1.00
R6619:Trp53bp1 UTSW 2 121,077,980 (GRCm39) critical splice donor site probably null
R6626:Trp53bp1 UTSW 2 121,038,284 (GRCm39) missense probably damaging 1.00
R6754:Trp53bp1 UTSW 2 121,101,057 (GRCm39) missense possibly damaging 0.83
R6765:Trp53bp1 UTSW 2 121,039,790 (GRCm39) missense probably damaging 1.00
R6806:Trp53bp1 UTSW 2 121,059,147 (GRCm39) missense probably damaging 0.99
R6860:Trp53bp1 UTSW 2 121,029,594 (GRCm39) missense probably damaging 1.00
R6991:Trp53bp1 UTSW 2 121,038,521 (GRCm39) missense probably damaging 1.00
R7278:Trp53bp1 UTSW 2 121,029,516 (GRCm39) missense probably damaging 1.00
R7339:Trp53bp1 UTSW 2 121,066,950 (GRCm39) missense probably benign 0.00
R7357:Trp53bp1 UTSW 2 121,041,781 (GRCm39) missense probably damaging 1.00
R7477:Trp53bp1 UTSW 2 121,066,827 (GRCm39) missense probably benign 0.34
R7577:Trp53bp1 UTSW 2 121,067,119 (GRCm39) missense possibly damaging 0.65
R7643:Trp53bp1 UTSW 2 121,078,295 (GRCm39) splice site probably null
R7728:Trp53bp1 UTSW 2 121,038,380 (GRCm39) missense probably damaging 1.00
R7806:Trp53bp1 UTSW 2 121,035,542 (GRCm39) missense probably damaging 0.99
R7955:Trp53bp1 UTSW 2 121,066,225 (GRCm39) missense possibly damaging 0.59
R8099:Trp53bp1 UTSW 2 121,030,230 (GRCm39) missense probably damaging 1.00
R8200:Trp53bp1 UTSW 2 121,066,657 (GRCm39) missense probably benign 0.00
R8282:Trp53bp1 UTSW 2 121,029,523 (GRCm39) missense probably damaging 0.99
R9136:Trp53bp1 UTSW 2 121,067,092 (GRCm39) missense possibly damaging 0.84
R9152:Trp53bp1 UTSW 2 121,029,056 (GRCm39) missense probably damaging 0.99
R9292:Trp53bp1 UTSW 2 121,046,177 (GRCm39) missense probably damaging 0.97
R9340:Trp53bp1 UTSW 2 121,100,460 (GRCm39) missense probably benign 0.40
R9475:Trp53bp1 UTSW 2 121,039,761 (GRCm39) missense probably benign 0.00
R9616:Trp53bp1 UTSW 2 121,066,657 (GRCm39) missense probably benign 0.30
R9675:Trp53bp1 UTSW 2 121,087,089 (GRCm39) missense probably benign 0.03
R9779:Trp53bp1 UTSW 2 121,066,469 (GRCm39) missense probably damaging 1.00
RF046:Trp53bp1 UTSW 2 121,046,482 (GRCm39) frame shift probably null
Z1088:Trp53bp1 UTSW 2 121,084,126 (GRCm39) missense probably benign 0.04
Z1177:Trp53bp1 UTSW 2 121,074,541 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GACATCTGCATGTACTCGGC -3'
(R):5'- AATCTATCTCCGTCATGGCAGTG -3'

Sequencing Primer
(F):5'- CGGCTCCCATCTTACCAGG -3'
(R):5'- GCGTGGCTTTAAAAGGACATTTC -3'
Posted On 2014-08-25