Incidental Mutation 'R4967:Ticrr'
ID 384111
Institutional Source Beutler Lab
Gene Symbol Ticrr
Ensembl Gene ENSMUSG00000046591
Gene Name TOPBP1-interacting checkpoint and replication regulator
Synonyms 5730590G19Rik
MMRRC Submission 042563-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R4967 (G1)
Quality Score 200
Status Validated
Chromosome 7
Chromosomal Location 79660196-79698148 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79660410 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 24 (R24Q)
Ref Sequence ENSEMBL: ENSMUSP00000146155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035977] [ENSMUST00000206017] [ENSMUST00000206591] [ENSMUST00000206622]
AlphaFold Q8BQ33
Predicted Effect possibly damaging
Transcript: ENSMUST00000035977
AA Change: R24Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: R24Q

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
Pfam:Treslin_N 211 1005 N/A PFAM
low complexity region 1186 1197 N/A INTRINSIC
low complexity region 1220 1235 N/A INTRINSIC
low complexity region 1339 1359 N/A INTRINSIC
low complexity region 1472 1480 N/A INTRINSIC
low complexity region 1496 1514 N/A INTRINSIC
low complexity region 1630 1643 N/A INTRINSIC
low complexity region 1694 1707 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205750
Predicted Effect probably benign
Transcript: ENSMUST00000206017
AA Change: R24Q

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206591
AA Change: R24Q

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000206622
AA Change: R24Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.1417 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (102/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,909,728 (GRCm38) Y199* probably null Het
Adhfe1 A T 1: 9,566,804 (GRCm38) I394F probably benign Het
Arhgap26 G T 18: 39,246,840 (GRCm38) R485L probably damaging Het
Atat1 T A 17: 35,901,575 (GRCm38) N231I probably damaging Het
B4galnt2 T C 11: 95,869,274 (GRCm38) N309S probably benign Het
Bank1 A T 3: 136,066,373 (GRCm38) F499I probably damaging Het
Bcl9l A G 9: 44,505,068 (GRCm38) D146G possibly damaging Het
Bglap3 A T 3: 88,376,364 (GRCm38) probably benign Het
Bscl2 C A 19: 8,847,980 (GRCm38) T376K probably benign Het
C87499 T C 4: 88,629,195 (GRCm38) T80A probably damaging Het
Cercam A T 2: 29,871,021 (GRCm38) probably null Het
Clec4f C T 6: 83,656,030 (GRCm38) M1I probably null Het
Clec4n A T 6: 123,232,107 (GRCm38) I14F probably benign Het
Cmya5 T C 13: 93,090,585 (GRCm38) E2665G probably damaging Het
Cog4 T A 8: 110,852,283 (GRCm38) probably null Het
Cubn A G 2: 13,348,045 (GRCm38) F1961L probably benign Het
Cyp4a29 A T 4: 115,246,999 (GRCm38) H88L probably benign Het
Dhdh A G 7: 45,479,106 (GRCm38) L216P probably damaging Het
Dpp6 T C 5: 27,666,511 (GRCm38) F544S probably damaging Het
Dthd1 C T 5: 62,888,206 (GRCm38) T771I probably benign Het
Dusp27 A T 1: 166,127,106 (GRCm38) V25E probably damaging Het
Emc10 A G 7: 44,493,188 (GRCm38) probably null Het
Fam198a C T 9: 121,965,718 (GRCm38) R313W probably damaging Het
Fgg A T 3: 83,012,765 (GRCm38) T284S probably benign Het
Gm3002 T A 14: 3,824,737 (GRCm38) N24K probably damaging Het
Gm8674 G A 13: 49,901,998 (GRCm38) noncoding transcript Het
Gpr63 G A 4: 25,008,368 (GRCm38) W364* probably null Het
Hcn4 C G 9: 58,859,828 (GRCm38) P891A unknown Het
Hcrtr1 A T 4: 130,130,999 (GRCm38) F365I possibly damaging Het
Hmcn2 A G 2: 31,354,164 (GRCm38) probably null Het
Hoxc5 T A 15: 103,015,354 (GRCm38) L194H probably damaging Het
Ifna11 A G 4: 88,820,050 (GRCm38) N31S probably null Het
Ikbke GCC G 1: 131,275,267 (GRCm38) probably null Het
Iqgap2 A T 13: 95,630,006 (GRCm38) D1496E probably benign Het
Kif28 G T 1: 179,708,442 (GRCm38) Q556K probably damaging Het
Klhl42 C T 6: 147,108,004 (GRCm38) T447I possibly damaging Het
Lrp1b A C 2: 41,788,974 (GRCm38) D35E probably damaging Het
Lsm14b A G 2: 180,033,899 (GRCm38) probably benign Het
Map3k1 T C 13: 111,772,738 (GRCm38) E226G probably damaging Het
Map3k14 T A 11: 103,239,531 (GRCm38) N187Y probably benign Het
Mcm6 A T 1: 128,335,849 (GRCm38) V645E probably damaging Het
Mdh1b G T 1: 63,719,863 (GRCm38) P190Q probably damaging Het
Meiob T G 17: 24,818,379 (GRCm38) L77R probably damaging Het
Mkl1 C A 15: 81,045,275 (GRCm38) probably benign Het
Mrgpra3 A T 7: 47,589,519 (GRCm38) F220I probably benign Het
Mtor T A 4: 148,491,360 (GRCm38) S1324T possibly damaging Het
Myot T A 18: 44,354,928 (GRCm38) D437E possibly damaging Het
Ncoa6 G T 2: 155,421,332 (GRCm38) T394K possibly damaging Het
Nf1 T A 11: 79,565,553 (GRCm38) probably null Het
Nup210 T A 6: 91,036,469 (GRCm38) T1190S possibly damaging Het
Odf1 T A 15: 38,226,408 (GRCm38) I184N probably damaging Het
Olfr178 G T 16: 58,889,594 (GRCm38) Q209K possibly damaging Het
Olfr270 T C 4: 52,970,960 (GRCm38) V113A possibly damaging Het
Olfr353 A G 2: 36,890,707 (GRCm38) I47T probably damaging Het
Olfr959 C T 9: 39,572,758 (GRCm38) C167Y probably damaging Het
Padi1 A G 4: 140,845,590 (GRCm38) V21A probably benign Het
Pdzrn3 C T 6: 101,151,590 (GRCm38) R705H probably damaging Het
Pik3cb T C 9: 99,105,632 (GRCm38) I18V probably benign Het
Pmpca T C 2: 26,390,308 (GRCm38) S117P probably damaging Het
Poteg T A 8: 27,494,981 (GRCm38) probably benign Het
Rab30 G A 7: 92,829,563 (GRCm38) R72H probably damaging Het
Ramp2 T A 11: 101,247,557 (GRCm38) probably null Het
Rbks G A 5: 31,624,532 (GRCm38) T308I probably damaging Het
Rnf112 A G 11: 61,452,926 (GRCm38) probably benign Het
Rnf38 G A 4: 44,152,460 (GRCm38) P3S probably damaging Het
Sec16a A G 2: 26,412,871 (GRCm38) S2344P probably benign Het
Slc16a8 C T 15: 79,252,884 (GRCm38) V109M possibly damaging Het
Slc28a1 A T 7: 81,142,009 (GRCm38) T308S possibly damaging Het
Slc39a3 T C 10: 81,031,619 (GRCm38) T98A possibly damaging Het
Smarcc2 T C 10: 128,483,180 (GRCm38) F731L probably damaging Het
Smc4 A G 3: 69,018,239 (GRCm38) probably benign Het
Sparcl1 T G 5: 104,092,910 (GRCm38) D216A probably damaging Het
Speg G A 1: 75,387,869 (GRCm38) R192H probably damaging Het
Sspo T C 6: 48,464,605 (GRCm38) L1892P probably damaging Het
Tacc2 A G 7: 130,623,948 (GRCm38) N807D probably damaging Het
Teddm1a A T 1: 153,892,233 (GRCm38) K148* probably null Het
Tex15 T A 8: 33,574,470 (GRCm38) D1309E probably benign Het
Thbs1 A T 2: 118,114,778 (GRCm38) E277D probably benign Het
Tigd4 A G 3: 84,595,153 (GRCm38) E459G probably benign Het
Tln2 C A 9: 67,355,125 (GRCm38) A615S probably damaging Het
Tmprss5 T C 9: 49,115,517 (GRCm38) V410A probably damaging Het
Tnrc6a G T 7: 123,189,872 (GRCm38) W1638L probably damaging Het
Tpr A G 1: 150,410,059 (GRCm38) D424G probably damaging Het
Trim34a A T 7: 104,261,064 (GRCm38) K358* probably null Het
Tssk5 T A 15: 76,374,656 (GRCm38) D10V possibly damaging Het
Usp35 A C 7: 97,313,575 (GRCm38) L470R probably damaging Het
Usp42 T C 5: 143,715,364 (GRCm38) D968G possibly damaging Het
Utrn A G 10: 12,455,420 (GRCm38) V2924A probably damaging Het
Wdtc1 C A 4: 133,294,343 (GRCm38) A627S probably damaging Het
Xrra1 A G 7: 99,906,523 (GRCm38) T366A probably damaging Het
Zfp712 T A 13: 67,040,709 (GRCm38) K585* probably null Het
Zfp97 T A 17: 17,145,131 (GRCm38) N297K probably damaging Het
Zfp97 G T 17: 17,144,676 (GRCm38) E146* probably null Het
Other mutations in Ticrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ticrr APN 7 79,677,283 (GRCm38) missense probably damaging 1.00
IGL00596:Ticrr APN 7 79,677,293 (GRCm38) missense probably damaging 1.00
IGL01327:Ticrr APN 7 79,694,461 (GRCm38) missense probably benign 0.00
IGL01525:Ticrr APN 7 79,682,449 (GRCm38) missense probably damaging 1.00
IGL01565:Ticrr APN 7 79,694,548 (GRCm38) missense probably benign
IGL01936:Ticrr APN 7 79,694,549 (GRCm38) missense probably benign 0.11
IGL02160:Ticrr APN 7 79,694,019 (GRCm38) missense probably benign 0.29
IGL02246:Ticrr APN 7 79,675,328 (GRCm38) missense probably damaging 1.00
IGL02487:Ticrr APN 7 79,683,021 (GRCm38) missense possibly damaging 0.86
IGL02593:Ticrr APN 7 79,695,466 (GRCm38) missense probably damaging 0.99
IGL02970:Ticrr APN 7 79,695,171 (GRCm38) missense probably benign 0.01
FR4304:Ticrr UTSW 7 79,694,311 (GRCm38) intron probably benign
PIT4305001:Ticrr UTSW 7 79,679,023 (GRCm38) missense possibly damaging 0.95
PIT4791001:Ticrr UTSW 7 79,669,638 (GRCm38) missense possibly damaging 0.92
R0016:Ticrr UTSW 7 79,693,792 (GRCm38) missense probably benign 0.01
R0062:Ticrr UTSW 7 79,667,906 (GRCm38) missense probably benign 0.01
R0062:Ticrr UTSW 7 79,667,906 (GRCm38) missense probably benign 0.01
R0067:Ticrr UTSW 7 79,677,410 (GRCm38) missense probably damaging 1.00
R0067:Ticrr UTSW 7 79,677,410 (GRCm38) missense probably damaging 1.00
R0362:Ticrr UTSW 7 79,677,340 (GRCm38) missense probably damaging 1.00
R0482:Ticrr UTSW 7 79,694,488 (GRCm38) missense probably damaging 0.99
R0595:Ticrr UTSW 7 79,695,563 (GRCm38) missense possibly damaging 0.94
R1118:Ticrr UTSW 7 79,693,953 (GRCm38) missense probably benign 0.23
R1119:Ticrr UTSW 7 79,693,953 (GRCm38) missense probably benign 0.23
R1572:Ticrr UTSW 7 79,681,824 (GRCm38) missense probably damaging 1.00
R1658:Ticrr UTSW 7 79,695,549 (GRCm38) missense possibly damaging 0.57
R1757:Ticrr UTSW 7 79,679,046 (GRCm38) nonsense probably null
R1757:Ticrr UTSW 7 79,675,323 (GRCm38) missense probably damaging 0.99
R1862:Ticrr UTSW 7 79,695,207 (GRCm38) missense probably damaging 1.00
R1869:Ticrr UTSW 7 79,679,135 (GRCm38) missense probably damaging 1.00
R1938:Ticrr UTSW 7 79,675,394 (GRCm38) missense probably damaging 0.98
R1966:Ticrr UTSW 7 79,694,735 (GRCm38) nonsense probably null
R2006:Ticrr UTSW 7 79,694,073 (GRCm38) missense possibly damaging 0.93
R2178:Ticrr UTSW 7 79,665,685 (GRCm38) missense probably benign 0.12
R3404:Ticrr UTSW 7 79,694,791 (GRCm38) missense probably benign 0.06
R3405:Ticrr UTSW 7 79,694,791 (GRCm38) missense probably benign 0.06
R3941:Ticrr UTSW 7 79,693,697 (GRCm38) intron probably benign
R3950:Ticrr UTSW 7 79,682,069 (GRCm38) missense probably damaging 1.00
R3951:Ticrr UTSW 7 79,682,069 (GRCm38) missense probably damaging 1.00
R3952:Ticrr UTSW 7 79,682,069 (GRCm38) missense probably damaging 1.00
R4972:Ticrr UTSW 7 79,669,668 (GRCm38) missense probably damaging 0.98
R5259:Ticrr UTSW 7 79,694,723 (GRCm38) missense probably benign 0.01
R5272:Ticrr UTSW 7 79,669,605 (GRCm38) missense probably benign 0.44
R5374:Ticrr UTSW 7 79,690,942 (GRCm38) nonsense probably null
R5480:Ticrr UTSW 7 79,660,809 (GRCm38) missense probably damaging 1.00
R5568:Ticrr UTSW 7 79,695,296 (GRCm38) nonsense probably null
R5568:Ticrr UTSW 7 79,689,967 (GRCm38) critical splice donor site probably null
R5588:Ticrr UTSW 7 79,679,105 (GRCm38) missense probably damaging 1.00
R5698:Ticrr UTSW 7 79,679,133 (GRCm38) missense probably benign
R5879:Ticrr UTSW 7 79,696,690 (GRCm38) missense probably benign 0.12
R5980:Ticrr UTSW 7 79,660,955 (GRCm38) missense probably damaging 0.99
R6128:Ticrr UTSW 7 79,693,968 (GRCm38) missense probably damaging 1.00
R6277:Ticrr UTSW 7 79,694,696 (GRCm38) missense probably benign 0.00
R6335:Ticrr UTSW 7 79,694,283 (GRCm38) splice site probably null
R6866:Ticrr UTSW 7 79,693,957 (GRCm38) missense possibly damaging 0.47
R6905:Ticrr UTSW 7 79,665,850 (GRCm38) missense probably benign 0.00
R6923:Ticrr UTSW 7 79,691,853 (GRCm38) missense probably damaging 0.98
R6962:Ticrr UTSW 7 79,665,897 (GRCm38) missense possibly damaging 0.84
R7232:Ticrr UTSW 7 79,693,742 (GRCm38) missense probably damaging 0.96
R7285:Ticrr UTSW 7 79,660,862 (GRCm38) missense possibly damaging 0.93
R7385:Ticrr UTSW 7 79,691,849 (GRCm38) missense possibly damaging 0.93
R7426:Ticrr UTSW 7 79,693,986 (GRCm38) missense probably benign
R7583:Ticrr UTSW 7 79,696,739 (GRCm38) nonsense probably null
R7749:Ticrr UTSW 7 79,679,096 (GRCm38) missense possibly damaging 0.94
R7863:Ticrr UTSW 7 79,682,012 (GRCm38) missense possibly damaging 0.92
R7899:Ticrr UTSW 7 79,669,485 (GRCm38) missense probably benign 0.23
R7935:Ticrr UTSW 7 79,681,836 (GRCm38) missense probably damaging 0.99
R8005:Ticrr UTSW 7 79,694,048 (GRCm38) missense probably damaging 0.98
R8080:Ticrr UTSW 7 79,684,264 (GRCm38) splice site probably null
R8181:Ticrr UTSW 7 79,660,980 (GRCm38) missense possibly damaging 0.92
R8349:Ticrr UTSW 7 79,694,680 (GRCm38) missense probably benign 0.27
R8410:Ticrr UTSW 7 79,667,675 (GRCm38) missense probably damaging 0.98
R8449:Ticrr UTSW 7 79,694,680 (GRCm38) missense probably benign 0.27
R9073:Ticrr UTSW 7 79,667,931 (GRCm38) missense probably benign 0.01
R9090:Ticrr UTSW 7 79,660,856 (GRCm38) missense possibly damaging 0.85
R9271:Ticrr UTSW 7 79,660,856 (GRCm38) missense possibly damaging 0.85
R9287:Ticrr UTSW 7 79,693,768 (GRCm38) missense possibly damaging 0.89
R9368:Ticrr UTSW 7 79,680,987 (GRCm38) missense probably damaging 0.99
R9469:Ticrr UTSW 7 79,694,763 (GRCm38) missense probably benign 0.03
R9502:Ticrr UTSW 7 79,693,849 (GRCm38) missense probably benign
R9614:Ticrr UTSW 7 79,696,006 (GRCm38) missense probably damaging 1.00
R9761:Ticrr UTSW 7 79,695,565 (GRCm38) missense probably damaging 1.00
R9779:Ticrr UTSW 7 79,679,054 (GRCm38) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TAGGAGCCGAGTTTGGGTAC -3'
(R):5'- GACACGAACTGAAGCAGCTC -3'

Sequencing Primer
(F):5'- GCTCCTCCAATAGCTGCAG -3'
(R):5'- GAACTGAAGCAGCTCCCTCTG -3'
Posted On 2016-04-27