Incidental Mutation 'R6841:Repin1'
ID 538026
Institutional Source Beutler Lab
Gene Symbol Repin1
Ensembl Gene ENSMUSG00000052751
Gene Name replication initiator 1
Synonyms Zfp464, AP4, E430037F08Rik
MMRRC Submission 044947-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6841 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48570817-48576016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48574859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 593 (Q593L)
Ref Sequence ENSEMBL: ENSMUSP00000113548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000163452] [ENSMUST00000204095] [ENSMUST00000204121] [ENSMUST00000204521]
AlphaFold Q5U4E2
Predicted Effect possibly damaging
Transcript: ENSMUST00000009420
AA Change: Q540L

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
AA Change: Q540L

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 possibly damaging
Transcript: ENSMUST00000118229
AA Change: Q593L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: Q593L

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 possibly damaging
Transcript: ENSMUST00000135151
AA Change: Q596L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: Q596L

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 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 possibly damaging
Transcript: ENSMUST00000163452
AA Change: Q540L

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
AA Change: Q540L

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: 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 probably benign
Transcript: ENSMUST00000204121
Predicted Effect probably benign
Transcript: ENSMUST00000204521
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik G A 11: 6,150,439 (GRCm39) W137* probably null Het
Acads G A 5: 115,250,417 (GRCm39) T169I probably benign Het
Adgrg7 T A 16: 56,570,787 (GRCm39) N414Y probably damaging Het
Ankrd35 T A 3: 96,577,742 (GRCm39) S6T probably damaging Het
Armc3 A G 2: 19,206,630 (GRCm39) probably null Het
Atp9a C A 2: 168,496,140 (GRCm39) V555F possibly damaging Het
Bltp1 A G 3: 37,075,630 (GRCm39) Y3610C probably damaging Het
Cars2 C T 8: 11,566,198 (GRCm39) V443I probably benign Het
Cblc A G 7: 19,526,821 (GRCm39) L137P probably damaging Het
Ccdc198 T C 14: 49,481,270 (GRCm39) probably null Het
Cdk5r1 T A 11: 80,369,021 (GRCm39) C229* probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Cfap54 T C 10: 92,710,877 (GRCm39) Y2728C unknown Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cnot11 C T 1: 39,579,148 (GRCm39) Q12* probably null Het
Commd6 A T 14: 101,874,534 (GRCm39) D19E probably damaging Het
Crygc C T 1: 65,112,361 (GRCm39) G71D possibly damaging Het
Cstf3 A G 2: 104,486,076 (GRCm39) K439E probably benign Het
Cyp11b2 G T 15: 74,727,340 (GRCm39) H114N probably benign Het
Cyp2d40 T C 15: 82,645,687 (GRCm39) D106G probably benign Het
Dhx8 T A 11: 101,655,618 (GRCm39) V1117E probably damaging Het
Duoxa1 G T 2: 122,134,462 (GRCm39) L219I probably damaging Het
Dynap A T 18: 70,374,253 (GRCm39) I91N probably damaging Het
Elfn1 G T 5: 139,958,900 (GRCm39) G635W probably damaging Het
Fan1 A T 7: 64,014,377 (GRCm39) I618N probably damaging Het
Fras1 A G 5: 96,876,410 (GRCm39) D2381G probably damaging Het
Fxyd6 T A 9: 45,302,851 (GRCm39) probably null Het
Gpr137b A T 13: 13,538,094 (GRCm39) W286R probably damaging Het
Gpsm3 A T 17: 34,809,536 (GRCm39) probably null Het
Has1 C T 17: 18,064,122 (GRCm39) V506I probably benign Het
Hoxd10 T A 2: 74,522,616 (GRCm39) V98D probably benign Het
Htr2b T A 1: 86,027,615 (GRCm39) D297V probably benign Het
Hydin G C 8: 111,265,007 (GRCm39) R2730P probably benign Het
I830077J02Rik T C 3: 105,833,830 (GRCm39) N109D possibly damaging Het
Igf2r A T 17: 12,922,263 (GRCm39) F1284I probably damaging Het
Ildr2 C G 1: 166,098,144 (GRCm39) D167E probably damaging Het
Ipo9 T C 1: 135,314,046 (GRCm39) D949G probably benign Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Itpr1 A G 6: 108,365,153 (GRCm39) N27S probably damaging Het
Klra4 C A 6: 130,042,162 (GRCm39) R35L probably benign Het
Map3k2 T A 18: 32,359,682 (GRCm39) C512S probably benign Het
Mertk A G 2: 128,601,150 (GRCm39) probably null Het
Mgat2 T A 12: 69,232,407 (GRCm39) I327N probably damaging Het
Mogat1 T C 1: 78,499,496 (GRCm39) I59T probably damaging Het
Mrpl2 A T 17: 46,958,382 (GRCm39) M55L probably benign Het
Nxpe3 T C 16: 55,664,685 (GRCm39) M512V possibly damaging Het
Pcdh15 T C 10: 74,286,052 (GRCm39) L769P probably damaging Het
Pcmtd2 T G 2: 181,486,231 (GRCm39) V117G probably damaging Het
Pdia2 A T 17: 26,415,578 (GRCm39) probably null Het
Rnf213 C T 11: 119,340,692 (GRCm39) T3517I probably benign Het
Rxfp2 A T 5: 149,942,210 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,968 (GRCm39) L138P probably damaging Het
Slc35a3 T A 3: 116,506,417 (GRCm39) Q5L probably null Het
Stab2 T A 10: 86,778,054 (GRCm39) N758I probably damaging Het
Sulf1 T A 1: 12,908,658 (GRCm39) I557N probably damaging Het
Tbc1d8 T C 1: 39,428,455 (GRCm39) I497V possibly damaging Het
Ticam2 A C 18: 46,693,998 (GRCm39) S30A probably benign Het
Timp3 T C 10: 86,181,638 (GRCm39) S170P possibly damaging Het
Top1mt C T 15: 75,547,973 (GRCm39) E38K probably benign Het
Tpp1 G A 7: 105,398,171 (GRCm39) L331F probably damaging Het
Trpm7 A T 2: 126,654,941 (GRCm39) D1332E probably benign Het
Ttc23 A G 7: 67,319,476 (GRCm39) E112G possibly damaging Het
Ttn T C 2: 76,715,296 (GRCm39) probably benign Het
Ttn T A 2: 76,726,934 (GRCm39) probably benign Het
Ubr3 T A 2: 69,850,969 (GRCm39) C1796S probably damaging Het
Ugt2b34 C T 5: 87,040,675 (GRCm39) V416I probably benign Het
Uqcrb A G 13: 67,048,827 (GRCm39) probably benign Het
Vps26b A G 9: 26,921,760 (GRCm39) L255P probably benign Het
Wdr59 A G 8: 112,223,512 (GRCm39) V154A probably damaging 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
R0395:Repin1 UTSW 6 48,574,459 (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
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'- TCAGTCAGAAGTCCAACCTGG -3'
(R):5'- ATGGGTTCCCTGGATACCTAG -3'

Sequencing Primer
(F):5'- TCAGAAGTCCAACCTGGTGTCC -3'
(R):5'- TTCCCTGGATACCTAGGGGAAAGTC -3'
Posted On 2018-10-18