Incidental Mutation 'R5627:Rcc1'
ID 441879
Institutional Source Beutler Lab
Gene Symbol Rcc1
Ensembl Gene ENSMUSG00000028896
Gene Name regulator of chromosome condensation 1
Synonyms 4931417M11Rik, Chc1
MMRRC Submission 043166-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R5627 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132059230-132073061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132065454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 57 (R57G)
Ref Sequence ENSEMBL: ENSMUSP00000101571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030726] [ENSMUST00000084250] [ENSMUST00000105951] [ENSMUST00000155129]
AlphaFold Q8VE37
Predicted Effect probably damaging
Transcript: ENSMUST00000030726
AA Change: R70G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: R70G

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 probably damaging
Transcript: ENSMUST00000084250
AA Change: R57G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: R57G

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 damaging
Transcript: ENSMUST00000105951
AA Change: R57G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: R57G

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 noncoding transcript
Transcript: ENSMUST00000131307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137238
Predicted Effect probably benign
Transcript: ENSMUST00000155129
AA Change: R57G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120701
Gene: ENSMUSG00000028896
AA Change: R57G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156710
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Abl1 T C 2: 31,690,595 (GRCm39) W705R probably benign Het
Alpk1 A T 3: 127,474,296 (GRCm39) V569D probably damaging Het
Ano3 T C 2: 110,587,298 (GRCm39) N425S possibly damaging Het
Atad2b A G 12: 4,967,911 (GRCm39) D68G probably benign Het
Cacna1e A G 1: 154,511,604 (GRCm39) I173T probably damaging Het
Cenpe G T 3: 134,941,234 (GRCm39) L716F possibly damaging Het
Cep85 A T 4: 133,861,408 (GRCm39) L622Q probably damaging Het
Cep97 A G 16: 55,745,330 (GRCm39) probably null Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chil5 A G 3: 105,926,951 (GRCm39) L228P probably damaging Het
Col22a1 T C 15: 71,853,767 (GRCm39) E265G probably damaging Het
Col3a1 T C 1: 45,370,720 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,049,664 (GRCm39) D497E probably benign Het
Egfem1 G T 3: 29,722,548 (GRCm39) E175* probably null Het
Eif4g2 A G 7: 110,673,446 (GRCm39) Y778H probably benign Het
Fam98b T C 2: 117,098,414 (GRCm39) C295R probably damaging Het
Gm3149 A T 14: 15,702,790 (GRCm39) I246L probably benign Het
Gm5134 A G 10: 75,821,942 (GRCm39) T259A possibly damaging Het
Gm5150 A G 3: 16,017,564 (GRCm39) Y236H probably damaging Het
Golga2 C A 2: 32,196,059 (GRCm39) Y864* probably null Het
Inpp4a A G 1: 37,406,854 (GRCm39) D199G probably damaging Het
Inpp4b T C 8: 82,470,445 (GRCm39) probably benign Het
Kremen1 T C 11: 5,149,709 (GRCm39) T321A probably benign Het
Map3k3 A G 11: 106,039,428 (GRCm39) S250G probably benign Het
Mtmr10 A T 7: 63,986,500 (GRCm39) K526M probably damaging Het
Nbea C T 3: 55,899,766 (GRCm39) C1461Y probably damaging Het
Nckap5l A T 15: 99,325,587 (GRCm39) N305K possibly damaging Het
Nup210l A T 3: 90,051,557 (GRCm39) Y567F probably damaging Het
Or11g26 A G 14: 50,753,257 (GRCm39) M199V probably benign Het
Or14c39 G T 7: 86,344,347 (GRCm39) V228F possibly damaging Het
Or4a70 A T 2: 89,324,388 (GRCm39) N89K probably benign Het
Or56b2 G A 7: 104,337,377 (GRCm39) V52M probably benign Het
Or5b96 T A 19: 12,867,663 (GRCm39) I93F probably damaging Het
Or5g25 T A 2: 85,477,991 (GRCm39) I225F probably damaging Het
Rfx7 C T 9: 72,440,066 (GRCm39) probably benign Het
Saraf T A 8: 34,621,799 (GRCm39) M1K probably null Het
Serpinb9d C T 13: 33,386,676 (GRCm39) T248I probably damaging Het
Slc38a6 A G 12: 73,390,457 (GRCm39) I254M possibly damaging Het
Slc6a5 A G 7: 49,561,522 (GRCm39) D18G possibly damaging Het
Supt20 A G 3: 54,620,611 (GRCm39) D389G possibly damaging Het
Tecpr2 T A 12: 110,907,916 (GRCm39) I1001K probably damaging Het
Vcan CAAAA CAA 13: 89,839,254 (GRCm39) probably null Het
Wdr36 T A 18: 32,994,691 (GRCm39) D717E possibly damaging Het
Zfp318 T C 17: 46,724,062 (GRCm39) S2022P 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
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
R7127:Rcc1 UTSW 4 132,062,107 (GRCm39) missense probably damaging 0.98
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'- TAACACAAAGCCTGGCCCTG -3'
(R):5'- GATCCATTTCACTGTGTGGCG -3'

Sequencing Primer
(F):5'- CTGTGGCCTCCTTGCTTAGG -3'
(R):5'- GTCATCCTCTGTTCACAAAGGGAG -3'
Posted On 2016-11-08