Incidental Mutation 'IGL02936:Rccd1'
ID364318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rccd1
Ensembl Gene ENSMUSG00000038930
Gene NameRCC1 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02936
Quality Score
Status
Chromosome7
Chromosomal Location80293229-80324454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80317046 bp
ZygosityHeterozygous
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] [ENSMUST00000163812] [ENSMUST00000172781] [ENSMUST00000174199] [ENSMUST00000174172] [ENSMUST00000173824]
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: ENSMUST00000134288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148001
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: ENSMUST00000172781
SMART Domains Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 150 2.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172911
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: 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: 57,258,404 T229I possibly damaging Het
Acad11 T C 9: 104,113,512 S439P probably benign Het
Acer2 A T 4: 86,900,559 N148I possibly damaging Het
Adgre1 A G 17: 57,478,833 I860V probably benign Het
Asb2 A G 12: 103,335,914 I125T probably benign Het
Atp13a2 G T 4: 141,001,949 L614F probably benign Het
Car7 A G 8: 104,548,222 T132A possibly damaging Het
Ccdc36 T C 9: 108,412,503 I173M possibly damaging Het
Cfap221 T C 1: 119,984,752 D135G probably damaging Het
Crtc3 A G 7: 80,589,763 F614L probably damaging Het
Csn3 T G 5: 87,930,133 I166S possibly damaging Het
Dna2 T G 10: 62,957,100 L298R probably damaging Het
Ece1 T C 4: 137,946,301 S387P probably benign Het
Fbxo28 C T 1: 182,341,528 G15D unknown Het
Fbxw24 A T 9: 109,624,958 probably null Het
Foxd3 T A 4: 99,656,815 V64E probably benign Het
Galnt7 A C 8: 57,584,214 V47G probably benign Het
Gcc2 A T 10: 58,296,140 L1453F probably damaging Het
Gcnt4 G A 13: 96,946,411 V72I probably benign Het
Gm10269 A C 18: 20,682,953 probably null Het
Hmcn1 T G 1: 150,697,522 Q2125H probably damaging Het
Llcfc1 T A 6: 41,684,659 S48T probably benign Het
Met G T 6: 17,553,397 V1061F probably damaging Het
Mthfd2 G A 6: 83,311,360 H138Y probably damaging Het
Mtus1 A T 8: 40,999,517 D1041E possibly damaging Het
Mug2 G A 6: 122,081,387 probably null Het
Nos3 C T 5: 24,380,993 T878I probably damaging Het
Olfr1211 A G 2: 88,929,784 M177T probably benign Het
Olfr690 A T 7: 105,330,005 Y62* probably null Het
Pbrm1 T A 14: 31,061,513 V497D probably damaging Het
Plcd1 T C 9: 119,074,199 E471G probably damaging Het
Poc1a A G 9: 106,285,027 T84A probably damaging Het
Ppm1f A G 16: 16,915,236 H209R probably damaging Het
Serpinb9g A T 13: 33,494,882 N245I possibly damaging Het
Slc22a26 A C 19: 7,791,105 F196V probably damaging Het
Tial1 G A 7: 128,442,663 probably benign Het
Trpa1 A T 1: 14,875,969 probably null Het
Vmn1r15 A T 6: 57,258,818 K224* probably null Het
Wdr72 A T 9: 74,152,580 D424V probably damaging Het
Wt1 A G 2: 105,169,039 K308E probably damaging Het
Zwint T C 10: 72,657,124 S193P probably damaging Het
Other mutations in Rccd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Rccd1 APN 7 80320218 unclassified probably benign
IGL02024:Rccd1 APN 7 80319007 missense probably benign 0.00
IGL02747:Rccd1 APN 7 80320490 missense probably benign 0.31
K3955:Rccd1 UTSW 7 80320671 missense probably benign 0.04
R0137:Rccd1 UTSW 7 80320578 missense possibly damaging 0.46
R0671:Rccd1 UTSW 7 80320217 unclassified probably benign
R0909:Rccd1 UTSW 7 80319051 splice site probably null
R1588:Rccd1 UTSW 7 80320111 nonsense probably null
R1706:Rccd1 UTSW 7 80320663 missense possibly damaging 0.79
R1826:Rccd1 UTSW 7 80320218 unclassified probably benign
R1934:Rccd1 UTSW 7 80320524 missense possibly damaging 0.64
R2983:Rccd1 UTSW 7 80320528 nonsense probably null
R3861:Rccd1 UTSW 7 80320368 missense probably benign 0.00
R7387:Rccd1 UTSW 7 80320602 missense probably benign 0.26
R7967:Rccd1 UTSW 7 80318909 missense possibly damaging 0.86
R8338:Rccd1 UTSW 7 80320870 missense possibly damaging 0.91
X0022:Rccd1 UTSW 7 80320567 missense probably benign 0.07
Posted On2015-12-18