Incidental Mutation 'R7127:Rcc1'
ID 552379
Institutional Source Beutler Lab
Gene Symbol Rcc1
Ensembl Gene ENSMUSG00000028896
Gene Name regulator of chromosome condensation 1
Synonyms 4931417M11Rik, Chc1
MMRRC Submission 045246-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R7127 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 132059230-132073061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132062107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 269 (S269P)
Ref Sequence ENSEMBL: ENSMUSP00000030726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030726] [ENSMUST00000084250] [ENSMUST00000105951] [ENSMUST00000155129]
AlphaFold Q8VE37
Predicted Effect probably damaging
Transcript: ENSMUST00000030726
AA Change: S269P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: S269P

DomainStartEndE-ValueType
Pfam:RCC1 47 95 7.9e-12 PFAM
Pfam:RCC1 98 147 7.5e-17 PFAM
Pfam:RCC1_2 134 165 1.3e-11 PFAM
Pfam:RCC1 150 200 9.9e-10 PFAM
Pfam:RCC1_2 187 216 3.2e-7 PFAM
Pfam:RCC1 203 268 4.2e-14 PFAM
Pfam:RCC1 271 322 1.1e-11 PFAM
Pfam:RCC1 325 373 3.4e-10 PFAM
Pfam:RCC1 376 427 3.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000084250
AA Change: S256P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: S256P

DomainStartEndE-ValueType
low complexity region 19 26 N/A INTRINSIC
Pfam:RCC1 34 82 4.1e-10 PFAM
Pfam:RCC1 85 134 1.4e-13 PFAM
Pfam:RCC1_2 121 151 1.5e-8 PFAM
Pfam:RCC1 137 187 1.7e-7 PFAM
Pfam:RCC1_2 174 203 3e-5 PFAM
Pfam:RCC1 190 255 9.6e-11 PFAM
Pfam:RCC1 258 309 1.9e-9 PFAM
Pfam:RCC1 312 360 5.7e-9 PFAM
Pfam:RCC1 363 414 3.9e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105951
AA Change: S256P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: S256P

DomainStartEndE-ValueType
low complexity region 19 26 N/A INTRINSIC
Pfam:RCC1 34 82 4.1e-10 PFAM
Pfam:RCC1 85 134 1.4e-13 PFAM
Pfam:RCC1_2 121 151 1.5e-8 PFAM
Pfam:RCC1 137 187 1.7e-7 PFAM
Pfam:RCC1_2 174 203 3e-5 PFAM
Pfam:RCC1 190 255 9.6e-11 PFAM
Pfam:RCC1 258 309 1.9e-9 PFAM
Pfam:RCC1 312 360 5.7e-9 PFAM
Pfam:RCC1 363 414 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155129
SMART Domains Protein: ENSMUSP00000120701
Gene: ENSMUSG00000028896

DomainStartEndE-ValueType
low complexity region 19 26 N/A INTRINSIC
Pfam:RCC1 34 82 3.9e-13 PFAM
Pfam:RCC1_2 69 98 5.2e-7 PFAM
Pfam:RCC1 85 116 5.3e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,931,825 (GRCm39) T26I probably benign Het
Adam5 A T 8: 25,300,797 (GRCm39) I244N probably damaging Het
Adam7 A G 14: 68,752,218 (GRCm39) probably null Het
Aox4 T A 1: 58,268,033 (GRCm39) N204K probably benign Het
Arl13b C T 16: 62,622,102 (GRCm39) G397D probably damaging Het
AU041133 T C 10: 81,986,700 (GRCm39) F118L probably benign Het
Brinp1 C T 4: 68,711,260 (GRCm39) R316H probably benign Het
Cabcoco1 C T 10: 68,272,160 (GRCm39) V268I probably benign Het
Car15 T C 16: 17,656,060 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,576,421 (GRCm39) D89E possibly damaging Het
Cckar T A 5: 53,863,817 (GRCm39) Y48F probably damaging Het
Cdyl T A 13: 36,040,651 (GRCm39) S282T probably benign Het
Clca3a1 T C 3: 144,711,806 (GRCm39) T730A probably damaging Het
Cracr2b T C 7: 141,045,695 (GRCm39) S318P possibly damaging Het
Depdc1b T C 13: 108,460,462 (GRCm39) F24S probably damaging Het
Duox2 C T 2: 122,122,430 (GRCm39) G565D probably benign Het
Ehbp1 A T 11: 22,003,529 (GRCm39) Y1073* probably null Het
Epg5 A T 18: 78,072,140 (GRCm39) N2384I probably damaging Het
Fam171b A G 2: 83,710,110 (GRCm39) D594G probably benign Het
Flad1 A G 3: 89,310,725 (GRCm39) Y441H probably damaging Het
Fn1 T C 1: 71,636,703 (GRCm39) T2150A probably benign Het
Fnta C A 8: 26,497,231 (GRCm39) R206L probably damaging Het
Gadd45b A T 10: 80,766,999 (GRCm39) M95L probably benign Het
Gbp8 A T 5: 105,165,578 (GRCm39) H358Q probably benign Het
Glipr1l3 C A 10: 111,983,995 (GRCm39) G157V probably damaging Het
Hoxc13 T C 15: 102,829,903 (GRCm39) I94T possibly damaging Het
Hunk A G 16: 90,272,779 (GRCm39) D361G probably damaging Het
Igkv3-4 T A 6: 70,649,155 (GRCm39) Y51* probably null Het
Kif26a C T 12: 112,144,579 (GRCm39) P1611L probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lrrc8d T C 5: 105,960,829 (GRCm39) V413A probably damaging Het
Med6 C T 12: 81,635,774 (GRCm39) R86Q probably damaging Het
Myrf A T 19: 10,192,705 (GRCm39) S605T probably benign Het
Or6c66b T A 10: 129,376,936 (GRCm39) C177S probably damaging Het
Plk3 A T 4: 116,987,767 (GRCm39) V429E probably benign Het
Plrg1 C T 3: 82,967,222 (GRCm39) P131L probably damaging Het
Plscr4 C T 9: 92,372,831 (GRCm39) R318* probably null Het
Rab34 A T 11: 78,082,056 (GRCm39) K152* probably null Het
Rasef A T 4: 73,662,369 (GRCm39) S194T probably damaging Het
Resf1 T C 6: 149,229,443 (GRCm39) F830L possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scin A G 12: 40,155,071 (GRCm39) I174T possibly damaging Het
Serpinb8 A G 1: 107,525,200 (GRCm39) M1V probably null Het
Smok3c A T 5: 138,062,971 (GRCm39) I153F probably damaging Het
Spen G A 4: 141,203,419 (GRCm39) S1736L possibly damaging Het
Sspo T A 6: 48,426,446 (GRCm39) M155K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sun2 T C 15: 79,612,100 (GRCm39) I528M probably benign Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Taok2 G T 7: 126,466,326 (GRCm39) A831E possibly damaging Het
Tas2r126 T C 6: 42,411,739 (GRCm39) F91L probably damaging Het
Tas2r140 A G 6: 133,031,922 (GRCm39) S279P possibly damaging Het
Tiam1 A T 16: 89,657,148 (GRCm39) L696H probably damaging Het
Trank1 T G 9: 111,194,864 (GRCm39) S963A possibly damaging Het
Trf A G 9: 103,102,326 (GRCm39) V184A probably benign Het
Ttll13 T A 7: 79,903,406 (GRCm39) M231K possibly damaging Het
Tuba1a T G 15: 98,849,455 (GRCm39) T41P probably benign Het
Zfhx4 A G 3: 5,478,104 (GRCm39) Q3573R probably damaging Het
Zfp141 G A 7: 42,124,853 (GRCm39) H540Y probably damaging Het
Other mutations in Rcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02881:Rcc1 APN 4 132,065,067 (GRCm39) missense probably benign 0.20
IGL02927:Rcc1 APN 4 132,065,067 (GRCm39) missense probably benign 0.20
IGL02802:Rcc1 UTSW 4 132,065,067 (GRCm39) missense probably benign 0.20
IGL02837:Rcc1 UTSW 4 132,065,067 (GRCm39) missense probably benign 0.20
R0240:Rcc1 UTSW 4 132,060,226 (GRCm39) missense probably damaging 1.00
R0240:Rcc1 UTSW 4 132,060,226 (GRCm39) missense probably damaging 1.00
R0828:Rcc1 UTSW 4 132,063,136 (GRCm39) unclassified probably benign
R1606:Rcc1 UTSW 4 132,062,087 (GRCm39) splice site probably null
R2155:Rcc1 UTSW 4 132,065,360 (GRCm39) critical splice donor site probably null
R3721:Rcc1 UTSW 4 132,065,125 (GRCm39) missense possibly damaging 0.46
R4633:Rcc1 UTSW 4 132,063,080 (GRCm39) missense probably damaging 0.98
R4908:Rcc1 UTSW 4 132,065,064 (GRCm39) missense probably damaging 1.00
R4936:Rcc1 UTSW 4 132,063,046 (GRCm39) missense probably damaging 0.96
R5461:Rcc1 UTSW 4 132,061,497 (GRCm39) missense probably benign 0.00
R5627:Rcc1 UTSW 4 132,065,454 (GRCm39) missense probably damaging 0.98
R6088:Rcc1 UTSW 4 132,060,153 (GRCm39) missense probably benign 0.00
R6197:Rcc1 UTSW 4 132,065,073 (GRCm39) missense possibly damaging 0.58
R6456:Rcc1 UTSW 4 132,061,427 (GRCm39) missense probably benign 0.10
R7440:Rcc1 UTSW 4 132,065,110 (GRCm39) missense probably damaging 0.97
R7529:Rcc1 UTSW 4 132,061,874 (GRCm39) missense probably benign 0.00
R8168:Rcc1 UTSW 4 132,063,096 (GRCm39) missense probably benign 0.38
R8469:Rcc1 UTSW 4 132,061,445 (GRCm39) missense probably damaging 1.00
R8733:Rcc1 UTSW 4 132,065,515 (GRCm39) missense probably benign 0.03
R9454:Rcc1 UTSW 4 132,062,074 (GRCm39) missense probably damaging 1.00
R9483:Rcc1 UTSW 4 132,062,808 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GAAGCAAGATCCAGTGCCTG -3'
(R):5'- TGATCAGGAGGCCAATCAAG -3'

Sequencing Primer
(F):5'- CCTGGAGTCCCTGTTGTCAAG -3'
(R):5'- GAGGCCAATCAAGGGTGAC -3'
Posted On 2019-05-15