Incidental Mutation 'R7781:Repin1'
ID 599234
Institutional Source Beutler Lab
Gene Symbol Repin1
Ensembl Gene ENSMUSG00000052751
Gene Name replication initiator 1
Synonyms Zfp464, AP4, E430037F08Rik
MMRRC Submission 045837-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 48570817-48576016 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 48574279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 403 (E403*)
Ref Sequence ENSEMBL: ENSMUSP00000118890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000163452] [ENSMUST00000204095] [ENSMUST00000204121] [ENSMUST00000204521]
AlphaFold Q5U4E2
Predicted Effect probably null
Transcript: ENSMUST00000009420
AA Change: E347*
SMART Domains Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
AA Change: E347*

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 null
Transcript: ENSMUST00000118229
AA Change: E400*
SMART Domains Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: E400*

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 null
Transcript: ENSMUST00000135151
AA Change: E403*
SMART Domains Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: E403*

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 null
Transcript: ENSMUST00000154010
AA Change: E347*
SMART Domains Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751
AA Change: E347*

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 null
Transcript: ENSMUST00000163452
AA Change: E347*
SMART Domains Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
AA Change: E347*

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
Meta Mutation Damage Score 0.9647 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik G A 3: 19,682,706 (GRCm39) P23S unknown Het
Abcc6 C T 7: 45,655,030 (GRCm39) R487Q probably damaging Het
Abl1 A T 2: 31,680,709 (GRCm39) T334S probably damaging Het
Adam6b T C 12: 113,454,962 (GRCm39) F593S probably damaging Het
Alx1 A T 10: 102,845,053 (GRCm39) M326K probably damaging Het
Ankhd1 A T 18: 36,758,258 (GRCm39) D984V probably damaging Het
Asb15 A G 6: 24,562,644 (GRCm39) N202S probably benign Het
Ate1 A T 7: 130,121,157 (GRCm39) V12E probably damaging Het
Atl2 A T 17: 80,167,260 (GRCm39) Y254N probably damaging Het
Atp13a5 A G 16: 29,116,226 (GRCm39) M630T probably benign Het
Atp5po A T 16: 91,723,417 (GRCm39) I124N possibly damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bicdl1 T C 5: 115,799,546 (GRCm39) E181G probably damaging Het
Bnipl C A 3: 95,151,486 (GRCm39) W272L probably damaging Het
Catsperd A T 17: 56,971,072 (GRCm39) H712L probably benign Het
Cilp2 T C 8: 70,334,997 (GRCm39) D667G possibly damaging Het
Cntn4 A C 6: 106,500,575 (GRCm39) K351Q probably damaging Het
Coq7 A T 7: 118,125,111 (GRCm39) I171N probably damaging Het
Csf2rb T A 15: 78,228,771 (GRCm39) F371I probably benign Het
Cyp3a13 C T 5: 137,897,136 (GRCm39) V393M possibly damaging Het
Dennd2a A G 6: 39,470,000 (GRCm39) V564A probably damaging Het
Ear14 T C 14: 51,441,468 (GRCm39) L108P probably damaging Het
Egflam C A 15: 7,283,227 (GRCm39) V277F probably null Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Faap100 T C 11: 120,265,089 (GRCm39) M596V probably benign Het
Fbxw15 T A 9: 109,386,330 (GRCm39) T270S possibly damaging Het
Gabpb1 C T 2: 126,481,120 (GRCm39) C342Y possibly damaging Het
Gls A T 1: 52,251,492 (GRCm39) C288* probably null Het
Grm8 G T 6: 27,285,786 (GRCm39) D875E probably benign Het
Hdac4 C A 1: 91,903,387 (GRCm39) R514L probably benign Het
Hps4 T A 5: 112,518,388 (GRCm39) N460K probably benign Het
Inpp5d T C 1: 87,627,394 (GRCm39) F565S probably damaging Het
Kcnh5 C A 12: 75,023,455 (GRCm39) V538F probably damaging Het
Kcp T C 6: 29,497,764 (GRCm39) N499S probably damaging Het
Klk15 T C 7: 43,588,980 (GRCm39) L244S probably benign Het
Lamp3 A T 16: 19,518,440 (GRCm39) S266T possibly damaging Het
Lemd3 A G 10: 120,761,678 (GRCm39) F863L probably damaging Het
Mga T A 2: 119,747,838 (GRCm39) V663D probably damaging Het
Naa15 A G 3: 51,378,904 (GRCm39) probably null Het
Ndrg3 C A 2: 156,770,733 (GRCm39) G352* probably null Het
Nr2f6 G T 8: 71,828,595 (GRCm39) N233K possibly damaging Het
Or4a79 A G 2: 89,551,879 (GRCm39) F192S probably benign Het
Plxnb2 T A 15: 89,041,225 (GRCm39) M1774L possibly damaging Het
Rpl23a G A 11: 78,073,654 (GRCm39) R62W probably benign Het
Rubcnl A G 14: 75,269,530 (GRCm39) R63G probably damaging Het
Ryr1 T C 7: 28,767,055 (GRCm39) D2976G probably damaging Het
Siglec1 A G 2: 130,923,258 (GRCm39) Y496H probably damaging Het
Sipa1l2 A G 8: 126,218,566 (GRCm39) V257A possibly damaging Het
Slc24a4 T C 12: 102,201,112 (GRCm39) probably null Het
Slc4a1ap T C 5: 31,684,822 (GRCm39) S153P probably damaging Het
Slc4a4 A T 5: 89,376,791 (GRCm39) E1006V possibly damaging Het
Svep1 T G 4: 58,069,251 (GRCm39) E2845A possibly damaging Het
Tlr1 T C 5: 65,084,079 (GRCm39) N166S possibly damaging Het
Tmem231 C T 8: 112,644,922 (GRCm39) probably null Het
Tsc2 C A 17: 24,827,089 (GRCm39) L873F possibly damaging Het
Unc13b T G 4: 43,259,546 (GRCm39) S1403A possibly damaging Het
Vmn1r7 A G 6: 57,001,553 (GRCm39) F236L probably benign Het
Vmn2r111 T C 17: 22,789,714 (GRCm39) S431G probably benign Het
Wdr7 A T 18: 63,910,860 (GRCm39) K751* probably null Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zcchc2 T C 1: 105,931,895 (GRCm39) Y366H probably damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp607a C T 7: 27,565,000 (GRCm39) R56C possibly 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
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
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'- GCATACATACCGGCGAGAAG -3'
(R):5'- CACATAGGGTTTCTCGCCTGTG -3'

Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
Posted On 2019-11-26