Incidental Mutation 'R1862:Ticrr'
ID 204028
Institutional Source Beutler Lab
Gene Symbol Ticrr
Ensembl Gene ENSMUSG00000046591
Gene Name TOPBP1-interacting checkpoint and replication regulator
Synonyms 5730590G19Rik
MMRRC Submission 039885-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R1862 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79660196-79698148 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79695207 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1607 (S1607P)
Ref Sequence ENSEMBL: ENSMUSP00000041377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035977] [ENSMUST00000059836] [ENSMUST00000178048] [ENSMUST00000183846] [ENSMUST00000184137] [ENSMUST00000206591] [ENSMUST00000206622]
AlphaFold Q8BQ33
Predicted Effect probably damaging
Transcript: ENSMUST00000035977
AA Change: S1607P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: S1607P

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 probably benign
Transcript: ENSMUST00000059836
SMART Domains Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382

DomainStartEndE-ValueType
KISc 13 357 2.88e-143 SMART
low complexity region 391 410 N/A INTRINSIC
Blast:KISc 413 481 1e-19 BLAST
Blast:KISc 482 518 3e-11 BLAST
low complexity region 523 540 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 621 636 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
Blast:KISc 780 879 2e-15 BLAST
low complexity region 927 944 N/A INTRINSIC
low complexity region 979 993 N/A INTRINSIC
low complexity region 1049 1061 N/A INTRINSIC
coiled coil region 1113 1139 N/A INTRINSIC
coiled coil region 1186 1205 N/A INTRINSIC
low complexity region 1293 1304 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178048
SMART Domains Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382

DomainStartEndE-ValueType
KISc 13 357 2.88e-143 SMART
low complexity region 391 410 N/A INTRINSIC
Blast:KISc 413 481 1e-19 BLAST
Blast:KISc 482 518 3e-11 BLAST
low complexity region 523 540 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 621 636 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
Blast:KISc 780 879 2e-15 BLAST
low complexity region 908 918 N/A INTRINSIC
low complexity region 928 945 N/A INTRINSIC
low complexity region 980 994 N/A INTRINSIC
low complexity region 1050 1062 N/A INTRINSIC
coiled coil region 1114 1140 N/A INTRINSIC
coiled coil region 1187 1206 N/A INTRINSIC
low complexity region 1294 1305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183846
SMART Domains Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382

DomainStartEndE-ValueType
KISc 13 357 2.88e-143 SMART
low complexity region 391 410 N/A INTRINSIC
Blast:KISc 413 481 1e-19 BLAST
Blast:KISc 482 518 3e-11 BLAST
low complexity region 523 540 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 621 636 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
Blast:KISc 780 879 2e-15 BLAST
low complexity region 908 918 N/A INTRINSIC
low complexity region 928 945 N/A INTRINSIC
low complexity region 980 994 N/A INTRINSIC
low complexity region 1050 1062 N/A INTRINSIC
coiled coil region 1114 1140 N/A INTRINSIC
coiled coil region 1187 1206 N/A INTRINSIC
low complexity region 1294 1305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184137
SMART Domains Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382

DomainStartEndE-ValueType
KISc 13 357 2.88e-143 SMART
low complexity region 391 410 N/A INTRINSIC
Blast:KISc 413 481 1e-19 BLAST
Blast:KISc 482 518 3e-11 BLAST
low complexity region 523 540 N/A INTRINSIC
low complexity region 543 557 N/A INTRINSIC
low complexity region 621 636 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
Blast:KISc 780 879 2e-15 BLAST
low complexity region 927 944 N/A INTRINSIC
low complexity region 979 993 N/A INTRINSIC
low complexity region 1049 1061 N/A INTRINSIC
coiled coil region 1113 1139 N/A INTRINSIC
coiled coil region 1186 1205 N/A INTRINSIC
low complexity region 1293 1304 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206591
Predicted Effect probably benign
Transcript: ENSMUST00000206622
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T A 14: 8,241,416 (GRCm38) E565D probably benign Het
Adam30 A T 3: 98,162,113 (GRCm38) K421* probably null Het
Atp6v1b1 A G 6: 83,749,852 (GRCm38) probably null Het
Cacna1a A T 8: 84,415,930 (GRCm38) I96F possibly damaging Het
Card10 G A 15: 78,780,514 (GRCm38) R747W probably damaging Het
Cdh8 T A 8: 99,190,394 (GRCm38) D363V probably damaging Het
Cecr2 T C 6: 120,757,941 (GRCm38) Y685H probably damaging Het
Cmklr1 T C 5: 113,614,407 (GRCm38) T178A probably damaging Het
Col16a1 G A 4: 130,092,782 (GRCm38) probably null Het
Col4a1 C T 8: 11,226,439 (GRCm38) probably benign Het
Coro2a T A 4: 46,548,797 (GRCm38) I166F possibly damaging Het
Cry2 T C 2: 92,424,566 (GRCm38) H148R probably damaging Het
Crygd T C 1: 65,061,974 (GRCm38) Y154C probably benign Het
Cubn T C 2: 13,308,561 (GRCm38) Y3066C probably damaging Het
Defb15 C T 8: 21,929,986 (GRCm38) E42K possibly damaging Het
Dnah12 A T 14: 26,709,257 (GRCm38) Y340F probably benign Het
Dnah12 A G 14: 26,697,398 (GRCm38) D147G probably benign Het
Dot1l G T 10: 80,783,539 (GRCm38) R193L probably damaging Het
Dupd1 A G 14: 21,686,689 (GRCm38) V115A probably benign Het
Esd A C 14: 74,742,074 (GRCm38) Y119S probably damaging Het
Esp36 A G 17: 38,419,439 (GRCm38) probably benign Het
Etfbkmt T A 6: 149,144,151 (GRCm38) M1K probably null Het
Exph5 A G 9: 53,376,248 (GRCm38) H1543R probably benign Het
Fam92a C T 4: 12,155,717 (GRCm38) V306I possibly damaging Het
Fbxo16 A G 14: 65,270,803 (GRCm38) T23A probably damaging Het
Gm11492 A G 11: 87,567,235 (GRCm38) H145R possibly damaging Het
Gm6614 T C 6: 142,003,423 (GRCm38) M76V possibly damaging Het
Gorasp2 C A 2: 70,679,464 (GRCm38) H136Q probably damaging Het
Hdc T A 2: 126,597,933 (GRCm38) I367F probably benign Het
Hmcn1 C T 1: 150,638,900 (GRCm38) V3574M probably benign Het
Ilvbl A G 10: 78,584,124 (GRCm38) D592G probably benign Het
Inmt G A 6: 55,174,883 (GRCm38) A34V probably damaging Het
Ints9 A C 14: 65,026,413 (GRCm38) H378P probably benign Het
Kcnh7 T A 2: 62,787,754 (GRCm38) I464L possibly damaging Het
Kcnt2 T A 1: 140,425,330 (GRCm38) V259D probably damaging Het
Lipo1 A G 19: 33,784,692 (GRCm38) F135S probably damaging Het
Lrba T C 3: 86,773,203 (GRCm38) probably null Het
Mapk1 T A 16: 17,026,429 (GRCm38) S22T probably benign Het
Mbd3l2 T C 9: 18,444,921 (GRCm38) S181P possibly damaging Het
Mgat5 C T 1: 127,459,969 (GRCm38) P554L probably damaging Het
Mki67 T C 7: 135,699,361 (GRCm38) T1315A probably benign Het
Mprip C T 11: 59,758,221 (GRCm38) T917M possibly damaging Het
Mroh3 T A 1: 136,185,988 (GRCm38) I688F probably benign Het
Myo1d A T 11: 80,663,048 (GRCm38) Y536N probably damaging Het
Neb C T 2: 52,162,187 (GRCm38) probably null Het
Noc2l A G 4: 156,237,708 (GRCm38) R161G probably benign Het
Nup54 T A 5: 92,419,567 (GRCm38) I375L possibly damaging Het
Nup93 T C 8: 94,306,102 (GRCm38) F539L probably damaging Het
Olfr138 A G 17: 38,275,344 (GRCm38) E191G probably damaging Het
Olfr417 T A 1: 174,369,452 (GRCm38) H178Q probably damaging Het
Olfr480 A C 7: 108,066,725 (GRCm38) Y24* probably null Het
Olfr874 T A 9: 37,746,968 (GRCm38) M278K probably benign Het
Panx1 A T 9: 15,007,428 (GRCm38) D378E probably damaging Het
Papss1 T A 3: 131,583,184 (GRCm38) V170D possibly damaging Het
Pcnx T C 12: 81,918,732 (GRCm38) S558P probably damaging Het
Pde3a G T 6: 141,487,513 (GRCm38) A757S probably damaging Het
Pde3a T A 6: 141,250,353 (GRCm38) I255N probably damaging Het
Pdzph1 A G 17: 58,922,583 (GRCm38) Y1027H probably damaging Het
Pkhd1 G T 1: 20,551,020 (GRCm38) R805S probably benign Het
Polr1a G A 6: 71,909,203 (GRCm38) G14D probably damaging Het
Prg4 T A 1: 150,460,669 (GRCm38) D60V probably damaging Het
Ptprc T C 1: 138,112,227 (GRCm38) S311G probably benign Het
Rapgefl1 G A 11: 98,842,209 (GRCm38) R205K probably benign Het
Rcan2 A T 17: 44,037,089 (GRCm38) probably null Het
Rock1 A G 18: 10,079,207 (GRCm38) I1087T probably damaging Het
Sectm1b A G 11: 121,054,942 (GRCm38) I191T possibly damaging Het
Setd1b T C 5: 123,147,613 (GRCm38) S241P unknown Het
Srpk2 T C 5: 23,524,150 (GRCm38) K497R probably benign Het
Sspo T C 6: 48,491,006 (GRCm38) S4296P probably damaging Het
Syne4 T C 7: 30,316,883 (GRCm38) V168A probably benign Het
Tank T C 2: 61,649,912 (GRCm38) F264S probably damaging Het
Trim30a A G 7: 104,411,198 (GRCm38) V457A probably damaging Het
Trim43b T A 9: 89,085,571 (GRCm38) K336N probably damaging Het
Trim47 T C 11: 116,106,137 (GRCm38) Q598R probably damaging Het
Tspan12 T C 6: 21,851,023 (GRCm38) N18S probably damaging Het
Ubap2 A G 4: 41,221,607 (GRCm38) S231P probably benign Het
Vit A G 17: 78,622,746 (GRCm38) D380G probably damaging Het
Vmn2r2 T C 3: 64,134,521 (GRCm38) N258D possibly damaging Het
Vmn2r52 C T 7: 10,173,406 (GRCm38) C131Y possibly damaging Het
Zadh2 T C 18: 84,095,318 (GRCm38) V373A possibly damaging Het
Zfp58 A T 13: 67,491,188 (GRCm38) F395I probably damaging Het
Zfp940 C A 7: 29,845,010 (GRCm38) G491C probably damaging 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
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
R4967:Ticrr UTSW 7 79,660,410 (GRCm38) missense probably damaging 0.99
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'- TGGAGATGCAAGCTTCTGG -3'
(R):5'- TCCAGCACTGCAATCCACTG -3'

Sequencing Primer
(F):5'- GAGATGCAAGCTTCTGGCCTTC -3'
(R):5'- ATAATTTCAGGAGTGGTCTTCCC -3'
Posted On 2014-06-23