Incidental Mutation 'R3946:Trp53bp1'
ID 307690
Institutional Source Beutler Lab
Gene Symbol Trp53bp1
Ensembl Gene ENSMUSG00000043909
Gene Name transformation related protein 53 binding protein 1
Synonyms 53BP1, p53BP1
MMRRC Submission 040827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3946 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 121193281-121271407 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121228626 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 918 (H918L)
Ref Sequence ENSEMBL: ENSMUSP00000106277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110647] [ENSMUST00000110648] [ENSMUST00000131245]
AlphaFold P70399
Predicted Effect probably damaging
Transcript: ENSMUST00000110647
AA Change: H918L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: H918L

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 possibly damaging
Transcript: ENSMUST00000110648
AA Change: H918L

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: H918L

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: ENSMUST00000131245
SMART Domains Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909

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 unknown
Transcript: ENSMUST00000142400
AA Change: H66L
Predicted Effect unknown
Transcript: ENSMUST00000147540
AA Change: H172L
Meta Mutation Damage Score 0.0954 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 98% (60/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaed1 T C 13: 64,309,098 (GRCm38) I104V probably damaging Het
Abi2 A G 1: 60,453,754 (GRCm38) Q328R probably damaging Het
Agr3 C A 12: 35,947,513 (GRCm38) probably benign Het
Brca2 T A 5: 150,536,704 (GRCm38) S481R probably damaging Het
Cabin1 T G 10: 75,745,259 (GRCm38) Q411P probably damaging Het
Calr3 A G 8: 72,443,620 (GRCm38) Y22H probably damaging Het
Caprin1 T A 2: 103,796,766 (GRCm38) I59F probably damaging Het
Cdk5rap1 T C 2: 154,348,716 (GRCm38) T442A probably damaging Het
Chn2 T C 6: 54,269,426 (GRCm38) probably benign Het
Cic C A 7: 25,272,346 (GRCm38) R501S possibly damaging Het
Coch A G 12: 51,601,812 (GRCm38) probably null Het
Defa25 G A 8: 21,084,490 (GRCm38) V17I probably null Het
Dglucy T C 12: 100,838,700 (GRCm38) probably null Het
Dtx1 T G 5: 120,681,286 (GRCm38) T616P possibly damaging Het
Eef1g T C 19: 8,969,977 (GRCm38) L171P probably benign Het
Fam135a A G 1: 24,030,394 (GRCm38) S465P probably damaging Het
Gm14025 A G 2: 129,039,601 (GRCm38) L135P probably damaging Het
Gm14412 A T 2: 177,314,685 (GRCm38) C472* probably null Het
Gm7104 T C 12: 88,286,042 (GRCm38) noncoding transcript Het
Got2 A G 8: 95,888,230 (GRCm38) S26P probably benign Het
H2-M11 A G 17: 36,549,231 (GRCm38) I329M probably damaging Het
Hmcn2 T A 2: 31,382,394 (GRCm38) D1295E possibly damaging Het
Hoxd12 G T 2: 74,675,427 (GRCm38) R114L probably damaging Het
Ilkap A C 1: 91,387,250 (GRCm38) D124E probably damaging Het
Med6 T C 12: 81,581,851 (GRCm38) Y88C probably damaging Het
Mep1a A T 17: 43,475,041 (GRCm38) L719* probably null Het
Mmp23 T C 4: 155,652,023 (GRCm38) Y187C probably damaging Het
Myo1g A G 11: 6,520,760 (GRCm38) M32T possibly damaging Het
Ncstn T C 1: 172,067,494 (GRCm38) E614G probably benign Het
Nr2c2 C T 6: 92,163,138 (GRCm38) R464W probably damaging Het
Olfr1309 G A 2: 111,983,297 (GRCm38) T259M possibly damaging Het
Otub2 T A 12: 103,392,826 (GRCm38) L58* probably null Het
Pcdhga12 G A 18: 37,767,629 (GRCm38) V505I probably benign Het
Pcdhga9 T A 18: 37,737,844 (GRCm38) V242D probably damaging Het
Pex1 C T 5: 3,626,084 (GRCm38) L891F probably damaging Het
Pgm1 C T 5: 64,112,061 (GRCm38) T497I probably benign Het
Pikfyve T C 1: 65,196,681 (GRCm38) F171L probably damaging Het
Pilrb1 T G 5: 137,857,392 (GRCm38) K79T probably benign Het
Pin1 C T 9: 20,655,364 (GRCm38) R21W probably damaging Het
Ptprq A G 10: 107,686,392 (GRCm38) probably benign Het
Rad17 G A 13: 100,622,863 (GRCm38) A552V possibly damaging Het
Rbbp8 A G 18: 11,718,868 (GRCm38) T249A probably benign Het
Rtkn A T 6: 83,135,976 (GRCm38) I10F probably benign Het
Scube2 T A 7: 109,857,590 (GRCm38) I103F possibly damaging Het
Sec23b A G 2: 144,581,973 (GRCm38) H514R probably benign Het
Serbp1 T A 6: 67,272,220 (GRCm38) D223E probably benign Het
Slc14a1 C A 18: 78,111,392 (GRCm38) V260L probably benign Het
Slc22a23 A G 13: 34,183,126 (GRCm38) I633T probably damaging Het
Stk19 A T 17: 34,824,747 (GRCm38) probably benign Het
Svs2 T C 2: 164,237,127 (GRCm38) M287V probably benign Het
Syne3 T A 12: 104,958,066 (GRCm38) Q358L probably damaging Het
Synj1 A G 16: 91,010,096 (GRCm38) F58L possibly damaging Het
Tg T C 15: 66,674,023 (GRCm38) V198A probably damaging Het
Tle4 A T 19: 14,597,388 (GRCm38) Y9N probably damaging Het
Tmem57 A G 4: 134,804,481 (GRCm38) Y626H probably damaging Het
Tmx3 G A 18: 90,524,335 (GRCm38) A186T possibly damaging Het
Traf3 G A 12: 111,255,245 (GRCm38) S280N possibly damaging Het
Trmt13 A G 3: 116,581,518 (GRCm38) F447S probably damaging Het
Ush2a T G 1: 188,728,504 (GRCm38) V2654G probably benign Het
Vmn2r25 A G 6: 123,840,098 (GRCm38) Y175H probably damaging Het
Zfp335 T C 2: 164,892,189 (GRCm38) D1330G probably damaging Het
Other mutations in Trp53bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Trp53bp1 APN 2 121,256,579 (GRCm38) missense possibly damaging 0.69
IGL00690:Trp53bp1 APN 2 121,235,995 (GRCm38) missense probably damaging 1.00
IGL00922:Trp53bp1 APN 2 121,208,482 (GRCm38) missense probably damaging 0.96
IGL01475:Trp53bp1 APN 2 121,270,319 (GRCm38) splice site probably null
IGL01639:Trp53bp1 APN 2 121,202,692 (GRCm38) missense possibly damaging 0.51
IGL01662:Trp53bp1 APN 2 121,236,025 (GRCm38) missense probably damaging 1.00
IGL01757:Trp53bp1 APN 2 121,211,304 (GRCm38) missense probably damaging 0.99
IGL01829:Trp53bp1 APN 2 121,215,896 (GRCm38) missense probably benign 0.39
IGL02247:Trp53bp1 APN 2 121,236,589 (GRCm38) missense probably damaging 1.00
IGL02349:Trp53bp1 APN 2 121,199,074 (GRCm38) missense probably damaging 1.00
IGL02391:Trp53bp1 APN 2 121,202,710 (GRCm38) missense possibly damaging 0.67
chives UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
concur UTSW 2 121,270,319 (GRCm38) splice site probably null
confirmation UTSW 2 121,205,113 (GRCm38) critical splice acceptor site probably null
Infra UTSW 2 121,247,499 (GRCm38) critical splice donor site probably null
Legume UTSW 2 121,199,042 (GRCm38) missense probably damaging 0.99
lentil UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
lentil2 UTSW 2 121,207,887 (GRCm38) missense probably damaging 1.00
Profundus UTSW 2 121,207,803 (GRCm38) missense probably damaging 1.00
split_pea UTSW 2 121,228,606 (GRCm38) nonsense probably null
verily UTSW 2 121,211,313 (GRCm38) missense probably damaging 1.00
PIT1430001:Trp53bp1 UTSW 2 121,271,275 (GRCm38) missense probably damaging 1.00
R0045:Trp53bp1 UTSW 2 121,204,497 (GRCm38) missense probably benign
R0060:Trp53bp1 UTSW 2 121,204,525 (GRCm38) missense probably damaging 1.00
R0060:Trp53bp1 UTSW 2 121,204,525 (GRCm38) missense probably damaging 1.00
R0103:Trp53bp1 UTSW 2 121,236,759 (GRCm38) missense possibly damaging 0.92
R0103:Trp53bp1 UTSW 2 121,236,759 (GRCm38) missense possibly damaging 0.92
R0281:Trp53bp1 UTSW 2 121,270,237 (GRCm38) missense probably damaging 1.00
R0386:Trp53bp1 UTSW 2 121,204,943 (GRCm38) missense probably damaging 1.00
R0427:Trp53bp1 UTSW 2 121,236,017 (GRCm38) missense probably damaging 1.00
R0505:Trp53bp1 UTSW 2 121,269,969 (GRCm38) missense probably damaging 0.99
R0522:Trp53bp1 UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
R0523:Trp53bp1 UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
R0525:Trp53bp1 UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
R0543:Trp53bp1 UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
R0559:Trp53bp1 UTSW 2 121,227,801 (GRCm38) missense probably damaging 1.00
R0573:Trp53bp1 UTSW 2 121,228,172 (GRCm38) splice site probably benign
R0593:Trp53bp1 UTSW 2 121,270,528 (GRCm38) missense possibly damaging 0.95
R0648:Trp53bp1 UTSW 2 121,235,707 (GRCm38) missense probably benign 0.20
R0680:Trp53bp1 UTSW 2 121,251,868 (GRCm38) missense probably null 0.13
R0732:Trp53bp1 UTSW 2 121,248,264 (GRCm38) missense probably null 0.96
R0905:Trp53bp1 UTSW 2 121,204,318 (GRCm38) splice site probably benign
R1377:Trp53bp1 UTSW 2 121,270,642 (GRCm38) missense probably damaging 1.00
R1415:Trp53bp1 UTSW 2 121,236,184 (GRCm38) missense probably damaging 1.00
R1725:Trp53bp1 UTSW 2 121,252,000 (GRCm38) missense possibly damaging 0.46
R1971:Trp53bp1 UTSW 2 121,205,036 (GRCm38) missense probably damaging 1.00
R2045:Trp53bp1 UTSW 2 121,204,483 (GRCm38) missense probably benign
R2143:Trp53bp1 UTSW 2 121,216,064 (GRCm38) missense probably benign 0.00
R2282:Trp53bp1 UTSW 2 121,270,273 (GRCm38) nonsense probably null
R2296:Trp53bp1 UTSW 2 121,209,247 (GRCm38) missense possibly damaging 0.96
R3106:Trp53bp1 UTSW 2 121,236,652 (GRCm38) missense probably damaging 1.00
R3792:Trp53bp1 UTSW 2 121,200,329 (GRCm38) missense probably damaging 1.00
R3793:Trp53bp1 UTSW 2 121,200,329 (GRCm38) missense probably damaging 1.00
R4001:Trp53bp1 UTSW 2 121,205,085 (GRCm38) missense probably damaging 1.00
R4327:Trp53bp1 UTSW 2 121,256,650 (GRCm38) missense probably damaging 1.00
R4585:Trp53bp1 UTSW 2 121,207,951 (GRCm38) missense probably damaging 1.00
R4630:Trp53bp1 UTSW 2 121,207,887 (GRCm38) missense probably damaging 1.00
R4744:Trp53bp1 UTSW 2 121,211,313 (GRCm38) missense probably damaging 1.00
R4751:Trp53bp1 UTSW 2 121,227,809 (GRCm38) missense probably damaging 1.00
R4754:Trp53bp1 UTSW 2 121,207,879 (GRCm38) missense probably damaging 1.00
R4755:Trp53bp1 UTSW 2 121,228,606 (GRCm38) nonsense probably null
R4850:Trp53bp1 UTSW 2 121,205,113 (GRCm38) critical splice acceptor site probably null
R4870:Trp53bp1 UTSW 2 121,256,641 (GRCm38) missense probably damaging 1.00
R4879:Trp53bp1 UTSW 2 121,202,603 (GRCm38) missense probably damaging 0.99
R4924:Trp53bp1 UTSW 2 121,221,220 (GRCm38) nonsense probably null
R4962:Trp53bp1 UTSW 2 121,270,546 (GRCm38) missense probably benign 0.12
R5019:Trp53bp1 UTSW 2 121,270,319 (GRCm38) splice site probably null
R5111:Trp53bp1 UTSW 2 121,211,387 (GRCm38) missense probably damaging 0.99
R5149:Trp53bp1 UTSW 2 121,216,117 (GRCm38) missense probably benign 0.00
R5252:Trp53bp1 UTSW 2 121,243,983 (GRCm38) missense probably benign 0.40
R5533:Trp53bp1 UTSW 2 121,207,746 (GRCm38) missense probably damaging 1.00
R5642:Trp53bp1 UTSW 2 121,236,662 (GRCm38) missense probably benign 0.00
R5773:Trp53bp1 UTSW 2 121,243,914 (GRCm38) missense probably damaging 1.00
R5819:Trp53bp1 UTSW 2 121,208,392 (GRCm38) nonsense probably null
R5886:Trp53bp1 UTSW 2 121,205,021 (GRCm38) missense probably damaging 1.00
R5908:Trp53bp1 UTSW 2 121,236,823 (GRCm38) missense probably benign 0.06
R6012:Trp53bp1 UTSW 2 121,256,602 (GRCm38) missense probably benign 0.07
R6351:Trp53bp1 UTSW 2 121,269,945 (GRCm38) missense probably damaging 1.00
R6406:Trp53bp1 UTSW 2 121,270,612 (GRCm38) missense probably damaging 0.99
R6575:Trp53bp1 UTSW 2 121,228,603 (GRCm38) missense probably damaging 1.00
R6619:Trp53bp1 UTSW 2 121,247,499 (GRCm38) critical splice donor site probably null
R6626:Trp53bp1 UTSW 2 121,207,803 (GRCm38) missense probably damaging 1.00
R6754:Trp53bp1 UTSW 2 121,270,576 (GRCm38) missense possibly damaging 0.83
R6765:Trp53bp1 UTSW 2 121,209,309 (GRCm38) missense probably damaging 1.00
R6806:Trp53bp1 UTSW 2 121,228,666 (GRCm38) missense probably damaging 0.99
R6860:Trp53bp1 UTSW 2 121,199,113 (GRCm38) missense probably damaging 1.00
R6991:Trp53bp1 UTSW 2 121,208,040 (GRCm38) missense probably damaging 1.00
R7278:Trp53bp1 UTSW 2 121,199,035 (GRCm38) missense probably damaging 1.00
R7339:Trp53bp1 UTSW 2 121,236,469 (GRCm38) missense probably benign 0.00
R7357:Trp53bp1 UTSW 2 121,211,300 (GRCm38) missense probably damaging 1.00
R7477:Trp53bp1 UTSW 2 121,236,346 (GRCm38) missense probably benign 0.34
R7577:Trp53bp1 UTSW 2 121,236,638 (GRCm38) missense possibly damaging 0.65
R7643:Trp53bp1 UTSW 2 121,247,814 (GRCm38) splice site probably null
R7728:Trp53bp1 UTSW 2 121,207,899 (GRCm38) missense probably damaging 1.00
R7806:Trp53bp1 UTSW 2 121,205,061 (GRCm38) missense probably damaging 0.99
R7955:Trp53bp1 UTSW 2 121,235,744 (GRCm38) missense possibly damaging 0.59
R8099:Trp53bp1 UTSW 2 121,199,749 (GRCm38) missense probably damaging 1.00
R8200:Trp53bp1 UTSW 2 121,236,176 (GRCm38) missense probably benign 0.00
R8282:Trp53bp1 UTSW 2 121,199,042 (GRCm38) missense probably damaging 0.99
R9136:Trp53bp1 UTSW 2 121,236,611 (GRCm38) missense possibly damaging 0.84
R9152:Trp53bp1 UTSW 2 121,198,575 (GRCm38) missense probably damaging 0.99
R9292:Trp53bp1 UTSW 2 121,215,696 (GRCm38) missense probably damaging 0.97
R9340:Trp53bp1 UTSW 2 121,269,979 (GRCm38) missense probably benign 0.40
R9475:Trp53bp1 UTSW 2 121,209,280 (GRCm38) missense probably benign 0.00
R9616:Trp53bp1 UTSW 2 121,236,176 (GRCm38) missense probably benign 0.30
R9675:Trp53bp1 UTSW 2 121,256,608 (GRCm38) missense probably benign 0.03
R9779:Trp53bp1 UTSW 2 121,235,988 (GRCm38) missense probably damaging 1.00
RF046:Trp53bp1 UTSW 2 121,216,001 (GRCm38) frame shift probably null
Z1088:Trp53bp1 UTSW 2 121,253,645 (GRCm38) missense probably benign 0.04
Z1177:Trp53bp1 UTSW 2 121,244,060 (GRCm38) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- ACATCAGCCCTCTCAGTCAG -3'
(R):5'- GGCTGTGAAGCTGATAGGAC -3'

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