Incidental Mutation 'R0395:Repin1'
ID 31936
Institutional Source Beutler Lab
Gene Symbol Repin1
Ensembl Gene ENSMUSG00000052751
Gene Name replication initiator 1
Synonyms Zfp464, AP4, E430037F08Rik
MMRRC Submission 038601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0395 (G1)
Quality Score 173
Status Validated
Chromosome 6
Chromosomal Location 48570817-48576016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 48574459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 460 (R460S)
Ref Sequence ENSEMBL: ENSMUSP00000113548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000163452] [ENSMUST00000204521] [ENSMUST00000204121] [ENSMUST00000204095]
AlphaFold Q5U4E2
Predicted Effect probably damaging
Transcript: ENSMUST00000009420
AA Change: R407S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
AA Change: R407S

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118229
AA Change: R460S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: R460S

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130896
Predicted Effect probably damaging
Transcript: ENSMUST00000135151
AA Change: R463S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: R463S

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
Pfam:zf-C2H2_6 284 300 1.4e-1 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150030
Predicted Effect probably benign
Transcript: ENSMUST00000154010
SMART Domains Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163452
AA Change: R407S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
AA Change: R407S

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204521
Predicted Effect probably benign
Transcript: ENSMUST00000204121
Predicted Effect probably benign
Transcript: ENSMUST00000204095
SMART Domains Protein: ENSMUSP00000145192
Gene: ENSMUSG00000007216

DomainStartEndE-ValueType
low complexity region 86 102 N/A INTRINSIC
ZnF_C2H2 104 126 7.9e-4 SMART
ZnF_C2H2 132 154 1.69e-3 SMART
ZnF_C2H2 160 182 2.36e-2 SMART
ZnF_C2H2 188 210 4.11e-2 SMART
ZnF_C2H2 279 301 1.84e-4 SMART
ZnF_C2H2 307 329 4.94e-5 SMART
ZnF_C2H2 335 357 2.95e-3 SMART
ZnF_C2H2 364 386 1.36e-2 SMART
ZnF_C2H2 446 468 1.3e-4 SMART
ZnF_C2H2 474 496 2.12e-4 SMART
ZnF_C2H2 502 524 5.5e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204879
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 98% (103/105)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele improves in insulin sensitivity and glucose metabolism in Leprdb homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T C 13: 59,837,470 (GRCm39) K205R possibly damaging Het
9630041A04Rik A T 9: 101,819,934 (GRCm39) N118I probably damaging Het
AAdacl4fm3 A G 4: 144,429,765 (GRCm39) V408A probably benign Het
Acsm2 G A 7: 119,174,969 (GRCm39) D245N probably damaging Het
Adgrv1 A T 13: 81,534,072 (GRCm39) H5836Q probably benign Het
Ahcyl2 T C 6: 29,886,167 (GRCm39) V391A probably damaging Het
Alcam A T 16: 52,130,227 (GRCm39) M41K probably benign Het
Aldh3b3 A C 19: 4,016,472 (GRCm39) E363D probably benign Het
Alk A G 17: 72,910,526 (GRCm39) V60A probably damaging Het
Als2cl G A 9: 110,727,152 (GRCm39) R906H probably damaging Het
Ap5z1 T C 5: 142,456,317 (GRCm39) probably benign Het
Apba2 T A 7: 64,393,156 (GRCm39) I547N probably benign Het
Apol10b A T 15: 77,469,840 (GRCm39) D112E probably damaging Het
Ash1l C A 3: 88,965,896 (GRCm39) R2433S probably damaging Het
Cachd1 T C 4: 100,810,402 (GRCm39) F335L probably damaging Het
Cbfa2t3 G T 8: 123,365,690 (GRCm39) Q181K probably benign Het
Cct6b A G 11: 82,630,506 (GRCm39) M265T probably benign Het
Cd151 G A 7: 141,050,304 (GRCm39) V180I probably damaging Het
Ces1h T A 8: 94,083,706 (GRCm39) N412I unknown Het
Chmp7 T C 14: 69,969,905 (GRCm39) T12A probably benign Het
Clasp1 A G 1: 118,467,061 (GRCm39) T534A possibly damaging Het
Cldn15 T A 5: 136,997,052 (GRCm39) V31E possibly damaging Het
Col16a1 G A 4: 129,966,902 (GRCm39) G583D probably damaging Het
Csmd1 T C 8: 16,396,652 (GRCm39) N426S probably damaging Het
Dapp1 C T 3: 137,641,398 (GRCm39) C199Y possibly damaging Het
Dchs1 A G 7: 105,407,745 (GRCm39) L2029P probably damaging Het
Dmc1 A G 15: 79,472,973 (GRCm39) F158S probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Dthd1 T A 5: 62,971,676 (GRCm39) N166K possibly damaging Het
Enam A T 5: 88,649,367 (GRCm39) Y292F probably damaging Het
Esrrg A T 1: 187,930,832 (GRCm39) I285F probably damaging Het
Fam50b A G 13: 34,931,220 (GRCm39) D232G probably damaging Het
Fam91a1 T A 15: 58,326,641 (GRCm39) S792T probably benign Het
Fbxw22 A C 9: 109,210,753 (GRCm39) C419W probably damaging Het
Flt4 G A 11: 49,521,170 (GRCm39) S393N probably benign Het
Fras1 A T 5: 96,917,512 (GRCm39) T3511S possibly damaging Het
Frat2 A C 19: 41,836,263 (GRCm39) S30A probably damaging Het
Glp1r T A 17: 31,155,312 (GRCm39) M433K probably benign Het
Gm10300 G A 4: 131,802,299 (GRCm39) probably benign Het
Gpatch4 A G 3: 87,961,661 (GRCm39) probably benign Het
Gpr22 A T 12: 31,759,461 (GRCm39) S220R possibly damaging Het
Grn T C 11: 102,327,049 (GRCm39) V549A probably benign Het
Gtf3c5 T C 2: 28,467,930 (GRCm39) D177G probably damaging Het
Htr1b A T 9: 81,513,704 (GRCm39) M301K probably benign Het
Ifi207 A T 1: 173,557,431 (GRCm39) S436T possibly damaging Het
Ifnb1 A T 4: 88,440,766 (GRCm39) N82K possibly damaging Het
Ina T G 19: 47,010,358 (GRCm39) N384K probably damaging Het
Kirrel2 T C 7: 30,149,883 (GRCm39) N541D possibly damaging Het
Lrp2 A T 2: 69,263,421 (GRCm39) I4377N possibly damaging Het
Lrrc37a A G 11: 103,355,221 (GRCm39) V2532A unknown Het
Mast4 T C 13: 102,871,781 (GRCm39) E2529G probably damaging Het
Myh6 T C 14: 55,183,777 (GRCm39) H1719R possibly damaging Het
Myo5a A T 9: 75,101,259 (GRCm39) H150L probably benign Het
Naglu C T 11: 100,964,933 (GRCm39) probably benign Het
Nags G A 11: 102,036,530 (GRCm39) A40T unknown Het
Nav1 G T 1: 135,460,359 (GRCm39) Y321* probably null Het
Nav1 A T 1: 135,460,361 (GRCm39) Y321N probably damaging Het
Neu3 C T 7: 99,462,985 (GRCm39) S246N probably benign Het
Npy5r C T 8: 67,134,625 (GRCm39) G56D probably benign Het
Nrxn1 A G 17: 91,395,742 (GRCm39) V138A possibly damaging Het
Nuggc C T 14: 65,850,921 (GRCm39) Q264* probably null Het
Ogfod1 G A 8: 94,790,156 (GRCm39) probably null Het
Or1o11 T A 17: 37,756,757 (GRCm39) F115Y probably damaging Het
Or2t45 A T 11: 58,669,195 (GRCm39) M81L probably benign Het
Or5b101 A G 19: 13,005,663 (GRCm39) F10S probably damaging Het
Or5p66 A G 7: 107,885,478 (GRCm39) V285A probably benign Het
Per1 T A 11: 68,993,103 (GRCm39) I340N probably damaging Het
Pkhd1 C T 1: 20,451,771 (GRCm39) A2175T probably benign Het
Pogk A G 1: 166,231,171 (GRCm39) V52A probably damaging Het
Pou2af3 C T 9: 51,191,834 (GRCm39) probably benign Het
Ppib A T 9: 65,973,601 (GRCm39) T185S possibly damaging Het
Ptar1 G T 19: 23,697,563 (GRCm39) M358I probably damaging Het
Qser1 A C 2: 104,593,226 (GRCm39) I1597S probably damaging Het
Ranbp17 T C 11: 33,424,896 (GRCm39) I487V probably benign Het
Sfmbt1 T C 14: 30,509,574 (GRCm39) probably benign Het
Sh3rf1 C T 8: 61,846,696 (GRCm39) probably benign Het
Shroom3 C T 5: 92,928,762 (GRCm39) R106C probably damaging Het
Siglecf T A 7: 43,005,399 (GRCm39) V453D probably damaging Het
Slc2a9 A G 5: 38,610,512 (GRCm39) S96P probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Slf1 A G 13: 77,254,088 (GRCm39) probably benign Het
Smad1 T G 8: 80,076,411 (GRCm39) K269T probably benign Het
Srp54b G A 12: 55,296,884 (GRCm39) R194H probably damaging Het
St8sia6 T A 2: 13,670,247 (GRCm39) S238C probably damaging Het
Stat3 A T 11: 100,780,763 (GRCm39) probably benign Het
Tafa2 A T 10: 123,429,497 (GRCm39) H37L probably benign Het
Tas1r2 T A 4: 139,382,665 (GRCm39) M101K possibly damaging Het
Tesc A G 5: 118,191,647 (GRCm39) probably null Het
Tle3 T A 9: 61,317,353 (GRCm39) M334K probably damaging Het
Tmem151a A T 19: 5,132,261 (GRCm39) V315E probably damaging Het
Tmprss2 T C 16: 97,368,245 (GRCm39) D480G probably damaging Het
Trmt1 C A 8: 85,423,741 (GRCm39) probably null Het
Tsr3 T C 17: 25,461,198 (GRCm39) probably null Het
Ube2u A G 4: 100,338,845 (GRCm39) K37E probably benign Het
Usp16 T A 16: 87,272,334 (GRCm39) D382E probably damaging Het
Usp9y A T Y: 1,340,053 (GRCm39) F1442Y probably damaging Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Utp25 T C 1: 192,805,984 (GRCm39) E187G possibly damaging Het
V1ra8 C T 6: 90,179,991 (GRCm39) L65F possibly damaging Het
Vmn2r10 T C 5: 109,149,859 (GRCm39) N395S probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp330 G A 8: 83,491,511 (GRCm39) Q221* probably null Het
Other mutations in Repin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Repin1 APN 6 48,573,839 (GRCm39) missense probably damaging 1.00
IGL01103:Repin1 APN 6 48,574,887 (GRCm39) intron probably benign
IGL02027:Repin1 APN 6 48,573,407 (GRCm39) missense probably damaging 1.00
IGL02143:Repin1 APN 6 48,574,055 (GRCm39) missense probably damaging 1.00
R1233:Repin1 UTSW 6 48,574,768 (GRCm39) missense possibly damaging 0.72
R1743:Repin1 UTSW 6 48,574,684 (GRCm39) missense probably damaging 0.96
R2259:Repin1 UTSW 6 48,573,464 (GRCm39) missense probably benign 0.00
R4509:Repin1 UTSW 6 48,573,460 (GRCm39) missense possibly damaging 0.77
R5008:Repin1 UTSW 6 48,573,542 (GRCm39) missense probably damaging 1.00
R5009:Repin1 UTSW 6 48,571,779 (GRCm39) intron probably benign
R5425:Repin1 UTSW 6 48,573,365 (GRCm39) missense probably benign 0.18
R5829:Repin1 UTSW 6 48,571,766 (GRCm39) intron probably benign
R6350:Repin1 UTSW 6 48,574,562 (GRCm39) missense probably damaging 0.98
R6841:Repin1 UTSW 6 48,574,859 (GRCm39) missense possibly damaging 0.95
R6854:Repin1 UTSW 6 48,570,825 (GRCm39) intron probably benign
R7067:Repin1 UTSW 6 48,574,850 (GRCm39) nonsense probably null
R7636:Repin1 UTSW 6 48,573,299 (GRCm39) missense probably benign 0.00
R7699:Repin1 UTSW 6 48,574,756 (GRCm39) missense probably damaging 0.96
R7700:Repin1 UTSW 6 48,574,756 (GRCm39) missense probably damaging 0.96
R7747:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7748:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7781:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7815:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7820:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7869:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7988:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R7991:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8078:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8079:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8080:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8088:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8089:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8130:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8131:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8324:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8325:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8342:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8411:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8488:Repin1 UTSW 6 48,570,952 (GRCm39) missense probably damaging 0.98
R8542:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8543:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8544:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8697:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8699:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8701:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8702:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8731:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8732:Repin1 UTSW 6 48,574,279 (GRCm39) nonsense probably null
R8780:Repin1 UTSW 6 48,574,073 (GRCm39) missense probably damaging 0.99
R8879:Repin1 UTSW 6 48,574,367 (GRCm39) missense possibly damaging 0.73
R9049:Repin1 UTSW 6 48,574,646 (GRCm39) missense possibly damaging 0.86
R9465:Repin1 UTSW 6 48,571,877 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TTGCAGCAGAGCCTATGGCACAAC -3'
(R):5'- ACTGAAGCTACGATCACAGTCGGG -3'

Sequencing Primer
(F):5'- TATGGCACAACCTGCACTTG -3'
(R):5'- GGACACACATAGGGTTTCTCG -3'
Posted On 2013-04-24