Incidental Mutation 'R6291:Rcc1l'
ID508415
Institutional Source Beutler Lab
Gene Symbol Rcc1l
Ensembl Gene ENSMUSG00000061979
Gene Namereculator of chromosome condensation 1 like
SynonymsWbscr16, 5730496C04Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.660) question?
Stock #R6291 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location134148054-134176774 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 134166721 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076228]
Predicted Effect probably null
Transcript: ENSMUST00000076228
SMART Domains Protein: ENSMUSP00000075581
Gene: ENSMUSG00000061979

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: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (86/88)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 86,566,544 G5D possibly damaging Het
Adamts9 T C 6: 92,890,120 K95R probably damaging Het
Adap1 G T 5: 139,273,491 L314M probably benign Het
Alkbh1 T A 12: 87,429,094 E306V possibly damaging Het
Alpk2 T A 18: 65,305,901 D1274V possibly damaging Het
Ankrd31 A C 13: 96,878,238 K1188N possibly damaging Het
Aox2 T A 1: 58,330,806 M759K probably damaging Het
Atp13a3 T A 16: 30,336,243 D961V probably damaging Het
BC067074 T A 13: 113,320,447 I1009N possibly damaging Het
Bcl11a G A 11: 24,158,321 G100R probably damaging Het
Bpifc G A 10: 85,976,258 A362V probably damaging Het
Btaf1 C T 19: 36,973,008 T546I probably benign Het
Casd1 C A 6: 4,619,834 P193Q probably damaging Het
Cdhr1 T C 14: 37,089,465 T230A probably benign Het
Celsr3 T G 9: 108,828,842 D841E probably damaging Het
Cenpj T C 14: 56,551,976 D872G probably benign Het
Cep95 G T 11: 106,815,596 A559S probably damaging Het
Chpt1 A T 10: 88,475,444 C62* probably null Het
Cspp1 A G 1: 10,064,334 K103R probably damaging Het
Ctla4 T C 1: 60,912,678 V122A probably benign Het
Cyp3a11 A G 5: 145,862,427 F317L possibly damaging Het
Daam1 T C 12: 71,946,251 L338P unknown Het
Dcc T A 18: 71,682,167 I379L probably benign Het
Dennd2c C A 3: 103,131,609 C24* probably null Het
Dnajc12 A G 10: 63,397,274 I65V probably benign Het
Dock3 T A 9: 106,908,432 M208L probably benign Het
Dsg1b T C 18: 20,404,791 I588T possibly damaging Het
Eif1b T C 9: 120,494,140 L22S probably benign Het
Ep300 T A 15: 81,648,507 S1649T unknown Het
Eps15 CAAA CAA 4: 109,305,703 probably null Het
Ercc6 A T 14: 32,569,986 E1102D probably benign Het
Gsdmc3 T C 15: 63,860,241 N312S probably benign Het
Guca2b A T 4: 119,657,693 L57Q probably damaging Het
Heatr5b G T 17: 78,762,097 H1740Q probably benign Het
Hecw1 G A 13: 14,523,007 probably benign Het
Icam5 A G 9: 21,036,921 H675R probably benign Het
Il18rap T C 1: 40,524,889 F56L probably benign Het
Iqgap3 T A 3: 88,089,730 probably null Het
Itsn1 T C 16: 91,868,096 probably benign Het
Jakmip3 A T 7: 139,020,856 D315V probably damaging Het
Kif24 A G 4: 41,413,959 Y328H probably damaging Het
Kmt2a A T 9: 44,832,874 probably benign Het
Kng1 A G 16: 23,079,725 E625G probably damaging Het
Man2b1 C T 8: 85,097,046 T973I probably benign Het
Masp2 G A 4: 148,602,753 V31M probably damaging Het
Myo18b C T 5: 112,865,735 R785H possibly damaging Het
Naa15 G A 3: 51,442,791 G103D probably damaging Het
Olfr1029 A G 2: 85,975,582 Y113C probably damaging Het
Olfr1309 A G 2: 111,983,624 V150A probably benign Het
Olfr873 T A 9: 20,300,603 D134E probably damaging Het
Papln A G 12: 83,783,015 N970S probably benign Het
Pick1 T A 15: 79,251,728 probably null Het
Pigr A C 1: 130,841,761 D103A probably benign Het
Plekhf1 A C 7: 38,221,605 F180V possibly damaging Het
Plxnc1 A G 10: 94,833,642 probably null Het
Polr3f A G 2: 144,534,388 I136V probably damaging Het
Ppp2r2c T C 5: 36,940,124 M218T possibly damaging Het
Prox2 C T 12: 85,089,646 V466I probably damaging Het
Prrc2a G A 17: 35,154,933 L1479F probably damaging Het
Rbm24 T A 13: 46,421,837 probably null Het
Ripk4 A C 16: 97,755,123 L140R probably damaging Het
Rmnd1 A T 10: 4,422,135 L188Q probably damaging Het
Rnf170 C T 8: 26,140,964 P249S probably damaging Het
Rras A G 7: 45,018,171 probably null Het
Rsf1 G A 7: 97,579,910 probably benign Het
Scn7a T A 2: 66,700,114 D629V probably damaging Het
Sipa1l3 A G 7: 29,388,133 S556P probably damaging Het
Smarca2 C T 19: 26,630,892 A117V probably damaging Het
Snca C T 6: 60,815,718 A69T probably damaging Het
Snx2 T C 18: 53,209,665 probably null Het
Spp1 T A 5: 104,439,376 S109T possibly damaging Het
Stoml3 T C 3: 53,507,516 L243P probably damaging Het
Susd2 A G 10: 75,637,574 F789L possibly damaging Het
Sycp1 A G 3: 102,908,961 M419T probably damaging Het
Thoc1 T C 18: 9,993,330 V563A probably benign Het
Tmprss11g T C 5: 86,487,422 I398V probably damaging Het
Tox3 A G 8: 90,248,938 L355P probably damaging Het
Tpp1 A G 7: 105,747,016 I492T probably benign Het
Trim21 A T 7: 102,564,082 L3Q probably damaging Het
Ttn A C 2: 76,907,736 V4153G probably benign Het
Ttn T C 2: 76,914,294 probably benign Het
Unc80 A G 1: 66,521,597 E828G possibly damaging Het
Vav3 A G 3: 109,508,854 N263S possibly damaging Het
Vmn1r183 A C 7: 24,055,557 T262P possibly damaging Het
Vmn2r67 G A 7: 85,149,934 P522S possibly damaging Het
Vps35 T A 8: 85,299,457 M1L probably benign Het
Wdr63 G A 3: 146,066,893 S466L probably benign Het
Xpo7 A T 14: 70,704,690 L79* probably null Het
Zc3h14 G A 12: 98,759,828 R324H probably damaging Het
Zfp330 T C 8: 82,772,984 T6A probably damaging Het
Zfp948 T A 17: 21,587,024 H159Q unknown Het
Other mutations in Rcc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0563:Rcc1l UTSW 5 134176555 missense probably benign 0.16
R1834:Rcc1l UTSW 5 134163659 missense probably damaging 1.00
R2108:Rcc1l UTSW 5 134155790 missense probably benign 0.00
R2512:Rcc1l UTSW 5 134166669 missense probably damaging 0.98
R3705:Rcc1l UTSW 5 134154191 missense probably damaging 1.00
R4192:Rcc1l UTSW 5 134155809 missense probably benign
R4658:Rcc1l UTSW 5 134171890 missense probably damaging 1.00
R4791:Rcc1l UTSW 5 134163776 missense possibly damaging 0.89
R6076:Rcc1l UTSW 5 134169328 missense possibly damaging 0.90
R6508:Rcc1l UTSW 5 134169238 missense probably damaging 1.00
R6799:Rcc1l UTSW 5 134176713 start codon destroyed probably null
R7344:Rcc1l UTSW 5 134176437 missense probably benign 0.03
R7971:Rcc1l UTSW 5 134165369 missense probably damaging 0.99
Z1177:Rcc1l UTSW 5 134163757 missense probably benign 0.10
Z1177:Rcc1l UTSW 5 134165408 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATGGGCTGGCTGGTTAAA -3'
(R):5'- GACTGCCCTGTGCGTGTG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CCCTGTGCGTGTGTGAGG -3'
Posted On2018-03-15