Incidental Mutation 'IGL02936:Rccd1'
ID 364318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rccd1
Ensembl Gene ENSMUSG00000038930
Gene Name RCC1 domain containing 1
Synonyms E430018M08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02936
Quality Score
Status
Chromosome 7
Chromosomal Location 79944339-79974512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79966794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 329 (K329N)
Ref Sequence ENSEMBL: ENSMUSP00000113273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047362] [ENSMUST00000047558] [ENSMUST00000121882] [ENSMUST00000123189] [ENSMUST00000172781] [ENSMUST00000174199] [ENSMUST00000163812] [ENSMUST00000174172] [ENSMUST00000173824]
AlphaFold Q8BTU7
Predicted Effect probably damaging
Transcript: ENSMUST00000047362
AA Change: K329N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
AA Change: K329N

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:RCC1 179 228 2.9e-17 PFAM
Pfam:RCC1_2 215 244 1.3e-10 PFAM
Pfam:RCC1 231 316 7.8e-9 PFAM
Pfam:RCC1_2 303 332 3.3e-10 PFAM
Pfam:RCC1 319 370 4.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047558
SMART Domains Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
internal_repeat_1 22 36 1.45e-5 PROSPERO
Pfam:MAP65_ASE1 37 602 5.3e-172 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121882
AA Change: K329N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
AA Change: K329N

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:RCC1 179 228 7.4e-18 PFAM
Pfam:RCC1_2 216 244 5.5e-10 PFAM
Pfam:RCC1_2 304 332 6.2e-10 PFAM
Pfam:RCC1 319 370 1.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123109
Predicted Effect probably benign
Transcript: ENSMUST00000123189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172911
Predicted Effect probably benign
Transcript: ENSMUST00000172781
SMART Domains Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 150 2.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174051
SMART Domains Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 244 1.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174199
SMART Domains Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 7 524 8.1e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174599
Predicted Effect probably benign
Transcript: ENSMUST00000163812
SMART Domains Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
internal_repeat_1 22 36 1.51e-5 PROSPERO
Pfam:MAP65_ASE1 37 605 1.9e-173 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174111
Predicted Effect probably benign
Transcript: ENSMUST00000174172
SMART Domains Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 34 615 2.9e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173824
SMART Domains Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
internal_repeat_1 22 36 8.71e-6 PROSPERO
Pfam:MAP65_ASE1 37 565 6e-168 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,687 (GRCm39) T229I possibly damaging Het
Acad11 T C 9: 103,990,711 (GRCm39) S439P probably benign Het
Acer2 A T 4: 86,818,796 (GRCm39) N148I possibly damaging Het
Adgre1 A G 17: 57,785,833 (GRCm39) I860V probably benign Het
Asb2 A G 12: 103,302,173 (GRCm39) I125T probably benign Het
Atp13a2 G T 4: 140,729,260 (GRCm39) L614F probably benign Het
Car7 A G 8: 105,274,854 (GRCm39) T132A possibly damaging Het
Cfap221 T C 1: 119,912,482 (GRCm39) D135G probably damaging Het
Crtc3 A G 7: 80,239,511 (GRCm39) F614L probably damaging Het
Csn3 T G 5: 88,077,992 (GRCm39) I166S possibly damaging Het
Dna2 T G 10: 62,792,879 (GRCm39) L298R probably damaging Het
Ece1 T C 4: 137,673,612 (GRCm39) S387P probably benign Het
Fbxo28 C T 1: 182,169,093 (GRCm39) G15D unknown Het
Fbxw24 A T 9: 109,454,026 (GRCm39) probably null Het
Foxd3 T A 4: 99,545,052 (GRCm39) V64E probably benign Het
Galnt7 A C 8: 58,037,248 (GRCm39) V47G probably benign Het
Gcc2 A T 10: 58,131,962 (GRCm39) L1453F probably damaging Het
Gcnt4 G A 13: 97,082,919 (GRCm39) V72I probably benign Het
Gm10269 A C 18: 20,816,010 (GRCm39) probably null Het
Hmcn1 T G 1: 150,573,273 (GRCm39) Q2125H probably damaging Het
Iho1 T C 9: 108,289,702 (GRCm39) I173M possibly damaging Het
Llcfc1 T A 6: 41,661,593 (GRCm39) S48T probably benign Het
Met G T 6: 17,553,396 (GRCm39) V1061F probably damaging Het
Mthfd2 G A 6: 83,288,342 (GRCm39) H138Y probably damaging Het
Mtus1 A T 8: 41,452,554 (GRCm39) D1041E possibly damaging Het
Mug2 G A 6: 122,058,346 (GRCm39) probably null Het
Nos3 C T 5: 24,585,991 (GRCm39) T878I probably damaging Het
Or4c15 A G 2: 88,760,128 (GRCm39) M177T probably benign Het
Or52b1 A T 7: 104,979,212 (GRCm39) Y62* probably null Het
Pbrm1 T A 14: 30,783,470 (GRCm39) V497D probably damaging Het
Plcd1 T C 9: 118,903,267 (GRCm39) E471G probably damaging Het
Poc1a A G 9: 106,162,226 (GRCm39) T84A probably damaging Het
Ppm1f A G 16: 16,733,100 (GRCm39) H209R probably damaging Het
Serpinb9g A T 13: 33,678,865 (GRCm39) N245I possibly damaging Het
Slc22a26 A C 19: 7,768,470 (GRCm39) F196V probably damaging Het
Tial1 G A 7: 128,044,387 (GRCm39) probably benign Het
Trpa1 A T 1: 14,946,193 (GRCm39) probably null Het
Vmn1r15 A T 6: 57,235,803 (GRCm39) K224* probably null Het
Wdr72 A T 9: 74,059,862 (GRCm39) D424V probably damaging Het
Wt1 A G 2: 104,999,384 (GRCm39) K308E probably damaging Het
Zwint T C 10: 72,492,956 (GRCm39) S193P probably damaging Het
Other mutations in Rccd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Rccd1 APN 7 79,969,966 (GRCm39) unclassified probably benign
IGL02024:Rccd1 APN 7 79,968,755 (GRCm39) missense probably benign 0.00
IGL02747:Rccd1 APN 7 79,970,238 (GRCm39) missense probably benign 0.31
K3955:Rccd1 UTSW 7 79,970,419 (GRCm39) missense probably benign 0.04
R0137:Rccd1 UTSW 7 79,970,326 (GRCm39) missense possibly damaging 0.46
R0671:Rccd1 UTSW 7 79,969,965 (GRCm39) unclassified probably benign
R0909:Rccd1 UTSW 7 79,968,799 (GRCm39) splice site probably null
R1588:Rccd1 UTSW 7 79,969,859 (GRCm39) nonsense probably null
R1706:Rccd1 UTSW 7 79,970,411 (GRCm39) missense possibly damaging 0.79
R1826:Rccd1 UTSW 7 79,969,966 (GRCm39) unclassified probably benign
R1934:Rccd1 UTSW 7 79,970,272 (GRCm39) missense possibly damaging 0.64
R2983:Rccd1 UTSW 7 79,970,276 (GRCm39) nonsense probably null
R3861:Rccd1 UTSW 7 79,970,116 (GRCm39) missense probably benign 0.00
R7387:Rccd1 UTSW 7 79,970,350 (GRCm39) missense probably benign 0.26
R7967:Rccd1 UTSW 7 79,968,657 (GRCm39) missense possibly damaging 0.86
R8338:Rccd1 UTSW 7 79,970,618 (GRCm39) missense possibly damaging 0.91
R9116:Rccd1 UTSW 7 79,970,728 (GRCm39) missense probably damaging 1.00
X0022:Rccd1 UTSW 7 79,970,315 (GRCm39) missense probably benign 0.07
Posted On 2015-12-18