Incidental Mutation 'R9614:Ticrr'
ID 724442
Institutional Source Beutler Lab
Gene Symbol Ticrr
Ensembl Gene ENSMUSG00000046591
Gene Name TOPBP1-interacting checkpoint and replication regulator
Synonyms 5730590G19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R9614 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79309944-79347896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79345754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1836 (S1836P)
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: S1836P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: S1836P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,364 (GRCm39) T317I possibly damaging Het
Adamts7 T A 9: 90,077,251 (GRCm39) V1306E probably damaging Het
Adcy9 C T 16: 4,106,547 (GRCm39) D1093N probably damaging Het
Adgra3 A G 5: 50,164,250 (GRCm39) V243A probably damaging Het
Aqp4 C T 18: 15,526,687 (GRCm39) A265T probably benign Het
Atad2 A T 15: 57,970,119 (GRCm39) probably null Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Best2 A C 8: 85,740,051 (GRCm39) C38G Het
Bicra A T 7: 15,705,880 (GRCm39) S1520R probably damaging Het
C1s2 A G 6: 124,602,588 (GRCm39) L541P probably damaging Het
Calcoco2 T A 11: 95,991,185 (GRCm39) H184L probably benign Het
Cav1 A T 6: 17,339,403 (GRCm39) I163F probably benign Het
Cep57l1 T C 10: 41,597,563 (GRCm39) H356R probably damaging Het
Clu A C 14: 66,208,851 (GRCm39) H32P unknown Het
Col5a1 T A 2: 27,879,186 (GRCm39) D840E unknown Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Csmd1 C A 8: 16,208,239 (GRCm39) V1239L probably benign Het
Cubn T A 2: 13,482,945 (GRCm39) Q267L probably benign Het
Cul7 C T 17: 46,975,212 (GRCm39) R1689W probably damaging Het
Dao A T 5: 114,152,060 (GRCm39) D126V probably benign Het
Eif3l T C 15: 78,978,423 (GRCm39) M560T probably benign Het
F830016B08Rik T A 18: 60,433,379 (GRCm39) I154N probably damaging Het
Fam184a T C 10: 53,517,144 (GRCm39) E980G probably damaging Het
Fgf21 T C 7: 45,264,703 (GRCm39) T10A probably benign Het
Fhad1 A C 4: 141,678,882 (GRCm39) V598G possibly damaging Het
Foxc1 A T 13: 31,991,863 (GRCm39) I225F possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Galnt9 G A 5: 110,744,047 (GRCm39) G294S probably damaging Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Idh2 A T 7: 79,747,925 (GRCm39) Y258* probably null Het
Immp2l T C 12: 41,160,933 (GRCm39) V77A probably damaging Het
Isl1 T C 13: 116,441,924 (GRCm39) E103G Het
Itgad A T 7: 127,803,022 (GRCm39) T1059S probably damaging Het
Kcnj6 G A 16: 94,633,307 (GRCm39) T268I probably damaging Het
Lgals3bp A G 11: 118,284,037 (GRCm39) V514A probably benign Het
Mcfd2 A T 17: 87,565,421 (GRCm39) H27Q probably benign Het
Mettl13 A G 1: 162,364,769 (GRCm39) W537R probably damaging Het
Mybl2 G T 2: 162,906,225 (GRCm39) G102V probably damaging Het
Nars2 C T 7: 96,689,125 (GRCm39) T349M probably damaging Het
Nat8f3 A T 6: 85,738,708 (GRCm39) V18E Het
Npepps T C 11: 97,149,177 (GRCm39) E115G probably benign Het
Odad3 T C 9: 21,904,310 (GRCm39) D322G probably benign Het
Oog2 T A 4: 143,922,707 (GRCm39) V324E probably damaging Het
Or2y12 T A 11: 49,426,071 (GRCm39) W20R probably damaging Het
Or7g12 A T 9: 18,899,526 (GRCm39) M81L possibly damaging Het
Or8d2b G A 9: 38,789,281 (GRCm39) V270M probably damaging Het
Or8j3b A G 2: 86,205,012 (GRCm39) V248A probably damaging Het
Pdzd2 A G 15: 12,375,486 (GRCm39) S1550P probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pms2 T C 5: 143,854,420 (GRCm39) V243A probably benign Het
Ptpn9 A G 9: 56,944,005 (GRCm39) D293G probably benign Het
Ptprb A G 10: 116,203,441 (GRCm39) K1784R probably damaging Het
Rab23 CAA CA 1: 33,764,077 (GRCm39) probably null Het
Raf1 T C 6: 115,596,597 (GRCm39) N576D probably benign Het
Rasa4 C A 5: 136,140,343 (GRCm39) H782Q possibly damaging Het
Rims1 C A 1: 22,491,969 (GRCm39) E168* probably null Het
Rpgrip1l A T 8: 91,987,434 (GRCm39) N874K possibly damaging Het
Rxfp4 C T 3: 88,559,969 (GRCm39) V161I possibly damaging Het
Scel G A 14: 103,843,032 (GRCm39) G558D probably damaging Het
Sipa1l2 T C 8: 126,196,565 (GRCm39) K723R probably null Het
Slc12a1 A T 2: 125,002,445 (GRCm39) R142W probably damaging Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Sox4 C T 13: 29,136,079 (GRCm39) G309D probably damaging Het
Terb1 T C 8: 105,223,476 (GRCm39) T111A probably benign Het
Tgfa G A 6: 86,248,397 (GRCm39) R133H probably damaging Het
Tlk2 A G 11: 105,138,328 (GRCm39) D292G probably benign Het
Tmc7 A G 7: 118,141,160 (GRCm39) I657T probably benign Het
Tmprss11c G A 5: 86,383,379 (GRCm39) T349I probably benign Het
Trhr A G 15: 44,060,981 (GRCm39) N167S probably benign Het
Tsc22d1 T G 14: 76,653,983 (GRCm39) I154S probably damaging Het
Vmn1r2 T C 4: 3,172,587 (GRCm39) Y169H probably damaging Het
Vmn1r77 G T 7: 11,775,766 (GRCm39) V181L probably benign Het
Other mutations in Ticrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ticrr APN 7 79,327,031 (GRCm39) missense probably damaging 1.00
IGL00596:Ticrr APN 7 79,327,041 (GRCm39) missense probably damaging 1.00
IGL01327:Ticrr APN 7 79,344,209 (GRCm39) missense probably benign 0.00
IGL01525:Ticrr APN 7 79,332,197 (GRCm39) missense probably damaging 1.00
IGL01565:Ticrr APN 7 79,344,296 (GRCm39) missense probably benign
IGL01936:Ticrr APN 7 79,344,297 (GRCm39) missense probably benign 0.11
IGL02160:Ticrr APN 7 79,343,767 (GRCm39) missense probably benign 0.29
IGL02246:Ticrr APN 7 79,325,076 (GRCm39) missense probably damaging 1.00
IGL02487:Ticrr APN 7 79,332,769 (GRCm39) missense possibly damaging 0.86
IGL02593:Ticrr APN 7 79,345,214 (GRCm39) missense probably damaging 0.99
IGL02970:Ticrr APN 7 79,344,919 (GRCm39) missense probably benign 0.01
FR4304:Ticrr UTSW 7 79,344,059 (GRCm39) intron probably benign
PIT4305001:Ticrr UTSW 7 79,328,771 (GRCm39) missense possibly damaging 0.95
PIT4791001:Ticrr UTSW 7 79,319,386 (GRCm39) missense possibly damaging 0.92
R0016:Ticrr UTSW 7 79,343,540 (GRCm39) missense probably benign 0.01
R0062:Ticrr UTSW 7 79,317,654 (GRCm39) missense probably benign 0.01
R0062:Ticrr UTSW 7 79,317,654 (GRCm39) missense probably benign 0.01
R0067:Ticrr UTSW 7 79,327,158 (GRCm39) missense probably damaging 1.00
R0067:Ticrr UTSW 7 79,327,158 (GRCm39) missense probably damaging 1.00
R0362:Ticrr UTSW 7 79,327,088 (GRCm39) missense probably damaging 1.00
R0482:Ticrr UTSW 7 79,344,236 (GRCm39) missense probably damaging 0.99
R0595:Ticrr UTSW 7 79,345,311 (GRCm39) missense possibly damaging 0.94
R1118:Ticrr UTSW 7 79,343,701 (GRCm39) missense probably benign 0.23
R1119:Ticrr UTSW 7 79,343,701 (GRCm39) missense probably benign 0.23
R1572:Ticrr UTSW 7 79,331,572 (GRCm39) missense probably damaging 1.00
R1658:Ticrr UTSW 7 79,345,297 (GRCm39) missense possibly damaging 0.57
R1757:Ticrr UTSW 7 79,328,794 (GRCm39) nonsense probably null
R1757:Ticrr UTSW 7 79,325,071 (GRCm39) missense probably damaging 0.99
R1862:Ticrr UTSW 7 79,344,955 (GRCm39) missense probably damaging 1.00
R1869:Ticrr UTSW 7 79,328,883 (GRCm39) missense probably damaging 1.00
R1938:Ticrr UTSW 7 79,325,142 (GRCm39) missense probably damaging 0.98
R1966:Ticrr UTSW 7 79,344,483 (GRCm39) nonsense probably null
R2006:Ticrr UTSW 7 79,343,821 (GRCm39) missense possibly damaging 0.93
R2178:Ticrr UTSW 7 79,315,433 (GRCm39) missense probably benign 0.12
R3404:Ticrr UTSW 7 79,344,539 (GRCm39) missense probably benign 0.06
R3405:Ticrr UTSW 7 79,344,539 (GRCm39) missense probably benign 0.06
R3941:Ticrr UTSW 7 79,343,445 (GRCm39) intron probably benign
R3950:Ticrr UTSW 7 79,331,817 (GRCm39) missense probably damaging 1.00
R3951:Ticrr UTSW 7 79,331,817 (GRCm39) missense probably damaging 1.00
R3952:Ticrr UTSW 7 79,331,817 (GRCm39) missense probably damaging 1.00
R4967:Ticrr UTSW 7 79,310,158 (GRCm39) missense probably damaging 0.99
R4972:Ticrr UTSW 7 79,319,416 (GRCm39) missense probably damaging 0.98
R5259:Ticrr UTSW 7 79,344,471 (GRCm39) missense probably benign 0.01
R5272:Ticrr UTSW 7 79,319,353 (GRCm39) missense probably benign 0.44
R5374:Ticrr UTSW 7 79,340,690 (GRCm39) nonsense probably null
R5480:Ticrr UTSW 7 79,310,557 (GRCm39) missense probably damaging 1.00
R5568:Ticrr UTSW 7 79,345,044 (GRCm39) nonsense probably null
R5568:Ticrr UTSW 7 79,339,715 (GRCm39) critical splice donor site probably null
R5588:Ticrr UTSW 7 79,328,853 (GRCm39) missense probably damaging 1.00
R5698:Ticrr UTSW 7 79,328,881 (GRCm39) missense probably benign
R5879:Ticrr UTSW 7 79,346,438 (GRCm39) missense probably benign 0.12
R5980:Ticrr UTSW 7 79,310,703 (GRCm39) missense probably damaging 0.99
R6128:Ticrr UTSW 7 79,343,716 (GRCm39) missense probably damaging 1.00
R6277:Ticrr UTSW 7 79,344,444 (GRCm39) missense probably benign 0.00
R6335:Ticrr UTSW 7 79,344,031 (GRCm39) splice site probably null
R6866:Ticrr UTSW 7 79,343,705 (GRCm39) missense possibly damaging 0.47
R6905:Ticrr UTSW 7 79,315,598 (GRCm39) missense probably benign 0.00
R6923:Ticrr UTSW 7 79,341,601 (GRCm39) missense probably damaging 0.98
R6962:Ticrr UTSW 7 79,315,645 (GRCm39) missense possibly damaging 0.84
R7232:Ticrr UTSW 7 79,343,490 (GRCm39) missense probably damaging 0.96
R7285:Ticrr UTSW 7 79,310,610 (GRCm39) missense possibly damaging 0.93
R7385:Ticrr UTSW 7 79,341,597 (GRCm39) missense possibly damaging 0.93
R7426:Ticrr UTSW 7 79,343,734 (GRCm39) missense probably benign
R7583:Ticrr UTSW 7 79,346,487 (GRCm39) nonsense probably null
R7749:Ticrr UTSW 7 79,328,844 (GRCm39) missense possibly damaging 0.94
R7863:Ticrr UTSW 7 79,331,760 (GRCm39) missense possibly damaging 0.92
R7899:Ticrr UTSW 7 79,319,233 (GRCm39) missense probably benign 0.23
R7935:Ticrr UTSW 7 79,331,584 (GRCm39) missense probably damaging 0.99
R8005:Ticrr UTSW 7 79,343,796 (GRCm39) missense probably damaging 0.98
R8080:Ticrr UTSW 7 79,334,012 (GRCm39) splice site probably null
R8181:Ticrr UTSW 7 79,310,728 (GRCm39) missense possibly damaging 0.92
R8349:Ticrr UTSW 7 79,344,428 (GRCm39) missense probably benign 0.27
R8410:Ticrr UTSW 7 79,317,423 (GRCm39) missense probably damaging 0.98
R8449:Ticrr UTSW 7 79,344,428 (GRCm39) missense probably benign 0.27
R9073:Ticrr UTSW 7 79,317,679 (GRCm39) missense probably benign 0.01
R9090:Ticrr UTSW 7 79,310,604 (GRCm39) missense possibly damaging 0.85
R9271:Ticrr UTSW 7 79,310,604 (GRCm39) missense possibly damaging 0.85
R9287:Ticrr UTSW 7 79,343,516 (GRCm39) missense possibly damaging 0.89
R9368:Ticrr UTSW 7 79,330,735 (GRCm39) missense probably damaging 0.99
R9469:Ticrr UTSW 7 79,344,511 (GRCm39) missense probably benign 0.03
R9502:Ticrr UTSW 7 79,343,597 (GRCm39) missense probably benign
R9761:Ticrr UTSW 7 79,345,313 (GRCm39) missense probably damaging 1.00
R9779:Ticrr UTSW 7 79,328,802 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TACCACTCCACTCAGTAGGG -3'
(R):5'- TGCCCTAAGTTCTACAATGAAGC -3'

Sequencing Primer
(F):5'- CACTCAGTAGGGGACGACG -3'
(R):5'- GTTCTACAATGAAGCCTCTTTAGG -3'
Posted On 2022-09-12