Incidental Mutation 'R6076:Rcc1l'
ID 482738
Institutional Source Beutler Lab
Gene Symbol Rcc1l
Ensembl Gene ENSMUSG00000061979
Gene Name reculator of chromosome condensation 1 like
Synonyms 5730496C04Rik, Wbscr16
MMRRC Submission 044237-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.698) question?
Stock # R6076 (G1)
Quality Score 183.009
Status Not validated
Chromosome 5
Chromosomal Location 134176893-134205613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134198167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 155 (V155A)
Ref Sequence ENSEMBL: ENSMUSP00000075581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076228]
AlphaFold Q9CYF5
Predicted Effect possibly damaging
Transcript: ENSMUST00000076228
AA Change: V155A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979
AA Change: V155A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156574
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp6v0a1 T A 11: 100,945,886 (GRCm39) I723N probably damaging Het
C530025M09Rik T C 2: 149,672,670 (GRCm39) probably benign Het
Cdkn1a A G 17: 29,318,332 (GRCm39) K149E probably damaging Het
Cep70 T A 9: 99,180,558 (GRCm39) I571N probably damaging Het
Cimip4 T C 15: 78,270,427 (GRCm39) R114G possibly damaging Het
Col9a1 A T 1: 24,234,457 (GRCm39) probably benign Het
Csde1 G A 3: 102,948,545 (GRCm39) D132N possibly damaging Het
Dlk1 A G 12: 109,425,895 (GRCm39) Q256R probably damaging Het
Epha6 A T 16: 60,026,073 (GRCm39) D456E probably damaging Het
Ephx2 A G 14: 66,330,297 (GRCm39) V354A probably damaging Het
Fpr-rs4 A G 17: 18,242,317 (GRCm39) N108S probably damaging Het
Gimap1 C T 6: 48,719,521 (GRCm39) Q116* probably null Het
Gm10784 T C 13: 50,099,310 (GRCm39) noncoding transcript Het
Grid2ip G C 5: 143,373,130 (GRCm39) S736T probably benign Het
Hic1 T C 11: 75,058,154 (GRCm39) D245G probably damaging Het
Hpcal4 C A 4: 123,084,514 (GRCm39) Q148K probably benign Het
Hspa14 C T 2: 3,512,109 (GRCm39) S55N probably benign Het
Hspa1b G A 17: 35,176,473 (GRCm39) T504I probably damaging Het
Jchain G T 5: 88,675,631 (GRCm39) T3N probably benign Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Kndc1 A G 7: 139,481,954 (GRCm39) T115A probably damaging Het
Lrp8 G T 4: 107,704,656 (GRCm39) R292L possibly damaging Het
Lrrc15 T A 16: 30,091,806 (GRCm39) D511V probably benign Het
Mapk8 A G 14: 33,112,250 (GRCm39) C213R probably damaging Het
Mcph1 C T 8: 18,682,015 (GRCm39) P384L probably benign Het
Mrps7 T C 11: 115,495,713 (GRCm39) S84P probably damaging Het
Nceh1 A C 3: 27,333,344 (GRCm39) I147L probably benign Het
Noxa1 A T 2: 24,975,821 (GRCm39) I409N probably damaging Het
Or1p1c T C 11: 74,161,088 (GRCm39) I291T probably damaging Het
Pkd1 G A 17: 24,800,004 (GRCm39) G2975R probably benign Het
Ppip5k1 T C 2: 121,167,591 (GRCm39) D17G probably null Het
Prex2 T A 1: 11,256,174 (GRCm39) Y1182N probably benign Het
Rasa2 T C 9: 96,427,699 (GRCm39) N722S probably benign Het
Rest A G 5: 77,430,821 (GRCm39) E1080G unknown Het
Sacs A T 14: 61,441,985 (GRCm39) K1344* probably null Het
Sec16a C T 2: 26,313,954 (GRCm39) E1884K probably damaging Het
Secisbp2 C A 13: 51,833,813 (GRCm39) T651K probably damaging Het
Sema3e A G 5: 14,291,100 (GRCm39) D620G probably benign Het
Slc6a17 A G 3: 107,379,387 (GRCm39) S553P possibly damaging Het
Smpd5 C A 15: 76,179,092 (GRCm39) N153K probably damaging Het
Ube2d4 T A 15: 58,718,992 (GRCm39) noncoding transcript Het
Vps13c A G 9: 67,818,884 (GRCm39) I1102V probably damaging Het
Wdr36 C A 18: 32,979,998 (GRCm39) S241Y probably damaging Het
Wdr7 T A 18: 63,872,348 (GRCm39) D427E probably damaging Het
Zfp945 G A 17: 23,070,432 (GRCm39) P489L probably damaging 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
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
R9660:Rcc1l UTSW 5 134,182,977 (GRCm39) missense probably benign 0.43
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'- TGTAATGCCGCCCTCTGAAG -3'
(R):5'- GAGTCAGGCTCCTCAGACTATC -3'

Sequencing Primer
(F):5'- AGGCCGATGTTCACAGATATTCC -3'
(R):5'- TCAGACTATCCTTGCCTGGAAGG -3'
Posted On 2017-07-14