Incidental Mutation 'R9660:Rcc1l'
ID 727505
Institutional Source Beutler Lab
Gene Symbol Rcc1l
Ensembl Gene ENSMUSG00000061979
Gene Name reculator of chromosome condensation 1 like
Synonyms 5730496C04Rik, Wbscr16
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.698) question?
Stock # R9660 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 134176893-134205613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134182977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 432 (Y432H)
Ref Sequence ENSEMBL: ENSMUSP00000075581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076228]
AlphaFold Q9CYF5
Predicted Effect probably benign
Transcript: ENSMUST00000076228
AA Change: Y432H

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979
AA Change: Y432H

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 28 40 N/A INTRINSIC
low complexity region 70 92 N/A INTRINSIC
Pfam:RCC1 127 186 2.3e-10 PFAM
Pfam:RCC1_2 173 202 1e-9 PFAM
Pfam:RCC1 190 242 5.6e-11 PFAM
Pfam:RCC1_2 229 258 2.9e-12 PFAM
Pfam:RCC1 245 295 5.1e-8 PFAM
Pfam:RCC1 298 348 2e-12 PFAM
Pfam:RCC1_2 391 422 2.6e-9 PFAM
Pfam:RCC1 409 456 3e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,478 (GRCm39) M819V probably benign Het
Abca5 T A 11: 110,168,248 (GRCm39) T1461S possibly damaging Het
Actl6b C T 5: 137,562,766 (GRCm39) R161C probably damaging Het
Aoc3 C G 11: 101,221,914 (GRCm39) P50R possibly damaging Het
Atr G A 9: 95,797,050 (GRCm39) A1698T probably benign Het
Caml T A 13: 55,779,670 (GRCm39) S248T possibly damaging Het
Cdh11 C T 8: 103,384,879 (GRCm39) G399S possibly damaging Het
Chrna10 G T 7: 101,761,416 (GRCm39) L392I probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Copg1 A G 6: 87,879,225 (GRCm39) I424V probably damaging Het
Cwh43 A T 5: 73,565,629 (GRCm39) N65Y possibly damaging Het
Defb1 A G 8: 22,284,486 (GRCm39) Y35C probably damaging Het
Disp2 T C 2: 118,620,627 (GRCm39) V453A probably benign Het
Dpp9 A G 17: 56,494,458 (GRCm39) Y834H probably damaging Het
Emsy A G 7: 98,262,285 (GRCm39) I598T possibly damaging Het
Entpd2 C T 2: 25,288,153 (GRCm39) R126C probably damaging Het
Fbxl17 A T 17: 63,806,426 (GRCm39) M196K probably benign Het
Gcc1 T C 6: 28,420,544 (GRCm39) R258G probably damaging Het
Gga2 A T 7: 121,606,494 (GRCm39) M157K possibly damaging Het
Gna11 T C 10: 81,370,918 (GRCm39) N106S probably benign Het
Gtf3c1 A C 7: 125,262,199 (GRCm39) S1116A possibly damaging Het
Gucy2d C A 7: 98,099,064 (GRCm39) D294E probably damaging Het
Igkv12-46 G T 6: 69,741,967 (GRCm39) P4T possibly damaging Het
Iqcf5 A T 9: 106,393,168 (GRCm39) I142L probably damaging Het
Klhdc9 A G 1: 171,187,357 (GRCm39) S214P probably damaging Het
Kmt2e T C 5: 23,683,617 (GRCm39) Y292H probably damaging Het
Lgr6 A G 1: 134,915,245 (GRCm39) L778P probably damaging Het
Lrrk2 A G 15: 91,618,228 (GRCm39) N909S probably benign Het
Ly75 A G 2: 60,154,184 (GRCm39) S1088P probably damaging Het
Mei1 G A 15: 81,966,098 (GRCm39) G240D Het
Miox A T 15: 89,218,703 (GRCm39) probably benign Het
Myo1e A G 9: 70,223,924 (GRCm39) Y128C probably damaging Het
Necab2 T C 8: 120,189,403 (GRCm39) V191A possibly damaging Het
Nlrp9a T A 7: 26,256,915 (GRCm39) Y178N probably damaging Het
Nr4a3 A G 4: 48,051,353 (GRCm39) T36A probably benign Het
Nup210l A G 3: 90,105,402 (GRCm39) T1517A probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or4a27 T C 2: 88,559,142 (GRCm39) K267R probably damaging Het
Or4g17 T G 2: 111,210,239 (GRCm39) I298R probably damaging Het
Or4p23 T C 2: 88,576,872 (GRCm39) Y120C probably damaging Het
Or51h7 C T 7: 102,591,259 (GRCm39) C175Y probably damaging Het
Pcnx2 A T 8: 126,487,592 (GRCm39) S1804T probably damaging Het
Pdcd11 T A 19: 47,082,191 (GRCm39) V35D possibly damaging Het
Pde10a C A 17: 9,170,370 (GRCm39) T347K probably damaging Het
Rgs22 A T 15: 36,040,856 (GRCm39) V1001E probably benign Het
Ripor3 T A 2: 167,831,646 (GRCm39) D385V probably damaging Het
Rrbp1 T C 2: 143,831,178 (GRCm39) K330E probably damaging Het
Ryr3 T G 2: 112,664,074 (GRCm39) D1759A probably benign Het
Scube3 A G 17: 28,371,414 (GRCm39) D43G probably benign Het
Sec24b A G 3: 129,790,422 (GRCm39) I701T probably damaging Het
Setd5 G T 6: 113,128,366 (GRCm39) V1440L probably benign Het
Sik3 A G 9: 46,106,142 (GRCm39) K337E possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc1a6 T A 10: 78,648,698 (GRCm39) M473K probably benign Het
Spag16 A G 1: 69,962,842 (GRCm39) R330G probably benign Het
Spag6 C A 2: 18,704,047 (GRCm39) Q32K probably benign Het
Sspo G A 6: 48,432,707 (GRCm39) G861D probably damaging Het
Togaram2 T A 17: 72,024,365 (GRCm39) S850T probably damaging Het
Trbv15 A T 6: 41,118,550 (GRCm39) E102V possibly damaging Het
Trim43b G T 9: 88,973,395 (GRCm39) H113N probably benign Het
Trpm2 T A 10: 77,766,389 (GRCm39) I877L probably benign Het
Ttn T C 2: 76,599,152 (GRCm39) I19286V probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tubb6 A G 18: 67,534,671 (GRCm39) H190R probably benign Het
Vmn1r214 T C 13: 23,219,007 (GRCm39) V167A probably benign Het
Vwf C A 6: 125,568,670 (GRCm39) L398I possibly damaging Het
Zfp9 G T 6: 118,443,851 (GRCm39) A58E probably benign Het
Other mutations in Rcc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0563:Rcc1l UTSW 5 134,205,394 (GRCm39) missense probably benign 0.16
R1834:Rcc1l UTSW 5 134,192,498 (GRCm39) missense probably damaging 1.00
R2108:Rcc1l UTSW 5 134,184,629 (GRCm39) missense probably benign 0.00
R2512:Rcc1l UTSW 5 134,195,508 (GRCm39) missense probably damaging 0.98
R3705:Rcc1l UTSW 5 134,183,030 (GRCm39) missense probably damaging 1.00
R4192:Rcc1l UTSW 5 134,184,648 (GRCm39) missense probably benign
R4658:Rcc1l UTSW 5 134,200,729 (GRCm39) missense probably damaging 1.00
R4791:Rcc1l UTSW 5 134,192,615 (GRCm39) missense possibly damaging 0.89
R6076:Rcc1l UTSW 5 134,198,167 (GRCm39) missense possibly damaging 0.90
R6291:Rcc1l UTSW 5 134,195,560 (GRCm39) splice site probably null
R6508:Rcc1l UTSW 5 134,198,077 (GRCm39) missense probably damaging 1.00
R6799:Rcc1l UTSW 5 134,205,552 (GRCm39) start codon destroyed probably null
R7344:Rcc1l UTSW 5 134,205,276 (GRCm39) missense probably benign 0.03
R7971:Rcc1l UTSW 5 134,194,208 (GRCm39) missense probably damaging 0.99
R9151:Rcc1l UTSW 5 134,197,057 (GRCm39) missense probably benign 0.04
R9622:Rcc1l UTSW 5 134,205,348 (GRCm39) missense probably damaging 1.00
Z1177:Rcc1l UTSW 5 134,194,247 (GRCm39) missense probably damaging 1.00
Z1177:Rcc1l UTSW 5 134,192,596 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GTGTTCACTAAGCCAGCTCTTTAAG -3'
(R):5'- CTAGGCTGGCTCTCAGAAAC -3'

Sequencing Primer
(F):5'- TAGCCTAGGAGGACCTTGAACTTC -3'
(R):5'- TGGCTCTCAGAAACCCTGG -3'
Posted On 2022-10-06