Incidental Mutation 'R0427:Trp53bp1'
ID 38717
Institutional Source Beutler Lab
Gene Symbol Trp53bp1
Ensembl Gene ENSMUSG00000043909
Gene Name transformation related protein 53 binding protein 1
Synonyms 53BP1, p53BP1
MMRRC Submission 038629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0427 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121023762-121101888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121066498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 743 (S743P)
Ref Sequence ENSEMBL: ENSMUSP00000114457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000129752] [ENSMUST00000131245]
AlphaFold P70399
Predicted Effect probably damaging
Transcript: ENSMUST00000110647
AA Change: S743P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: S743P

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 damaging
Transcript: ENSMUST00000110648
AA Change: S743P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: S743P

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: ENSMUST00000124031
Predicted Effect probably benign
Transcript: ENSMUST00000129752
Predicted Effect probably damaging
Transcript: ENSMUST00000131245
AA Change: S743P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909
AA Change: S743P

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 991 1002 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142400
Predicted Effect probably benign
Transcript: ENSMUST00000147540
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T G 8: 44,105,493 (GRCm39) T51P probably benign Het
Alpk1 A T 3: 127,464,720 (GRCm39) V1186E probably damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Armc2 A G 10: 41,876,406 (GRCm39) I127T possibly damaging Het
Atp6v1b2 T C 8: 69,554,084 (GRCm39) L87P probably damaging Het
Atp9a T A 2: 168,482,617 (GRCm39) probably null Het
BC048679 C G 7: 81,144,993 (GRCm39) V123L probably benign Het
Birc7 G A 2: 180,571,307 (GRCm39) probably null Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cacna1d T A 14: 30,068,774 (GRCm39) N155I probably damaging Het
Cd300lg T C 11: 101,933,852 (GRCm39) V33A probably damaging Het
Cep290 A G 10: 100,352,041 (GRCm39) D742G probably benign Het
Cep95 A G 11: 106,681,578 (GRCm39) N14S probably benign Het
Cfap74 A T 4: 155,525,734 (GRCm39) M728L probably benign Het
Ctsll3 T A 13: 60,949,205 (GRCm39) T9S probably benign Het
Cyp3a44 A G 5: 145,716,412 (GRCm39) S393P possibly damaging Het
Dmbt1 T A 7: 130,642,632 (GRCm39) L150* probably null Het
Dnah2 A G 11: 69,343,705 (GRCm39) I2868T probably damaging Het
Dop1a A G 9: 86,389,585 (GRCm39) H505R probably damaging Het
Exo1 A G 1: 175,733,519 (GRCm39) K781R probably damaging Het
Fam184a A G 10: 53,566,211 (GRCm39) Y459H probably damaging Het
Foxp1 C T 6: 98,907,164 (GRCm39) D540N probably damaging Het
Fstl5 T A 3: 76,615,034 (GRCm39) Y698* probably null Het
Gm5141 T C 13: 62,922,525 (GRCm39) K215E probably damaging Het
Grik5 C A 7: 24,757,923 (GRCm39) R386L probably benign Het
Ikbke A T 1: 131,185,647 (GRCm39) S620R possibly damaging Het
Kcnh3 A T 15: 99,131,180 (GRCm39) M518L probably benign Het
Lrrcc1 G T 3: 14,623,416 (GRCm39) A748S probably damaging Het
Mbd5 T G 2: 49,169,091 (GRCm39) S1191A probably benign Het
Med27 T C 2: 29,390,283 (GRCm39) I70T probably damaging Het
Mplkipl1 A G 19: 61,163,908 (GRCm39) Y176H probably damaging Het
Myh4 A G 11: 67,149,479 (GRCm39) D1737G probably damaging Het
Myo5a A G 9: 75,081,478 (GRCm39) D1021G probably benign Het
Ncor1 T C 11: 62,301,746 (GRCm39) E212G probably damaging Het
Neb A T 2: 52,133,896 (GRCm39) N3362K possibly damaging Het
Neb A G 2: 52,134,081 (GRCm39) S3301P probably damaging Het
Neurod1 T G 2: 79,284,526 (GRCm39) K286Q probably damaging Het
Noc3l T C 19: 38,778,095 (GRCm39) Q773R probably benign Het
Nup205 T A 6: 35,171,398 (GRCm39) N420K probably benign Het
Olfml3 A T 3: 103,644,330 (GRCm39) V113E probably benign Het
Opa1 T C 16: 29,430,279 (GRCm39) V439A probably damaging Het
Or13c7 A G 4: 43,854,417 (GRCm39) Y36C probably damaging Het
Or14j7 A T 17: 38,234,520 (GRCm39) H21L probably benign Het
Or1j14 C T 2: 36,417,994 (GRCm39) S190L probably damaging Het
Or1o11 T A 17: 37,756,593 (GRCm39) D60E probably damaging Het
Pcdhb11 T C 18: 37,555,818 (GRCm39) S383P probably damaging Het
Pkd1 T C 17: 24,812,476 (GRCm39) V3803A probably damaging Het
Plekhg1 A G 10: 3,914,235 (GRCm39) D1319G probably benign Het
Polq T A 16: 36,882,355 (GRCm39) C1227* probably null Het
Pramel22 A T 4: 143,380,993 (GRCm39) N343K probably benign Het
Psmc1 T C 12: 100,085,487 (GRCm39) F283L probably damaging Het
Psmd8 T C 7: 28,875,552 (GRCm39) N189S probably damaging Het
Ptger4 G A 15: 5,272,382 (GRCm39) T104I probably benign Het
Ptpro T G 6: 137,345,294 (GRCm39) V100G possibly damaging Het
Rab11fip1 T A 8: 27,644,520 (GRCm39) T422S probably damaging Het
Rad54l2 A G 9: 106,570,891 (GRCm39) L1143P possibly damaging Het
Rnf148 A G 6: 23,654,072 (GRCm39) M308T probably damaging Het
Sbsn T A 7: 30,451,523 (GRCm39) probably benign Het
Scube2 T A 7: 109,424,044 (GRCm39) T487S probably benign Het
Sema4c C A 1: 36,592,892 (GRCm39) E109* probably null Het
Sipa1l2 A T 8: 126,207,071 (GRCm39) L544Q probably damaging Het
Slc28a2 A G 2: 122,288,702 (GRCm39) T603A probably benign Het
Tbc1d7 T A 13: 43,306,563 (GRCm39) T138S probably benign Het
Timd4 A T 11: 46,710,084 (GRCm39) T239S probably benign Het
Tspan10 T A 11: 120,335,120 (GRCm39) Y77N probably damaging Het
Ttc14 T C 3: 33,857,633 (GRCm39) S245P probably damaging Het
Ttf1 T A 2: 28,955,054 (GRCm39) S139R probably benign Het
Tubd1 C A 11: 86,448,616 (GRCm39) Q279K possibly damaging Het
Twnk A G 19: 44,996,026 (GRCm39) E153G probably benign Het
Ush2a A G 1: 188,132,478 (GRCm39) D900G probably damaging Het
Usp54 A G 14: 20,620,432 (GRCm39) V691A probably benign Het
Usp8 T C 2: 126,559,952 (GRCm39) probably benign Het
Vmn1r231 C T 17: 21,110,490 (GRCm39) V142I probably benign Het
Vmn2r15 C T 5: 109,434,953 (GRCm39) A584T probably damaging Het
Vmn2r6 A G 3: 64,467,008 (GRCm39) S164P probably damaging Het
Vps16 A G 2: 130,280,770 (GRCm39) Y233C probably benign Het
Vwf C G 6: 125,650,902 (GRCm39) H2511D probably benign Het
Wipf3 T G 6: 54,460,882 (GRCm39) L110R possibly damaging Het
Zfp945 T A 17: 23,084,226 (GRCm39) N11I probably benign 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
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
R2045:Trp53bp1 UTSW 2 121,034,964 (GRCm39) missense probably benign
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'- GTGGAGAGTCTTCTGTTACAGCGTC -3'
(R):5'- ACTGCACCTTTCTCTGACTGAAACC -3'

Sequencing Primer
(F):5'- GAATCTCCATCACATTCTATACGC -3'
(R):5'- AACCCAGTCTGAGGCATTGTG -3'
Posted On 2013-05-23