Incidental Mutation 'IGL01095:R3hcc1'
ID 52673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol R3hcc1
Ensembl Gene ENSMUSG00000034194
Gene Name R3H domain and coiled-coil containing 1
Synonyms 1700020M16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01095
Quality Score
Status
Chromosome 14
Chromosomal Location 69934756-69945033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69937477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 390 (E390G)
Ref Sequence ENSEMBL: ENSMUSP00000113898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022660] [ENSMUST00000118374] [ENSMUST00000121142] [ENSMUST00000216152]
AlphaFold Q8BSI6
Predicted Effect probably benign
Transcript: ENSMUST00000022660
SMART Domains Protein: ENSMUSP00000022660
Gene: ENSMUSG00000034205

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SR 61 162 4.4e-53 SMART
SR 189 305 8.41e-18 SMART
SR 329 428 2.29e-51 SMART
SR 438 546 4.6e-33 SMART
Pfam:Lysyl_oxidase 550 753 1.9e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118374
AA Change: E390G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: E390G

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121142
AA Change: E390G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: E390G

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138326
Predicted Effect probably benign
Transcript: ENSMUST00000216152
AA Change: E390G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Adgra1 A G 7: 139,425,570 (GRCm39) T28A possibly damaging Het
Aldh8a1 A G 10: 21,265,180 (GRCm39) E269G probably benign Het
Alkbh7 A G 17: 57,304,470 (GRCm39) probably null Het
Ap1g2 T C 14: 55,342,571 (GRCm39) T129A probably benign Het
Ap1s1 A G 5: 137,070,663 (GRCm39) I117T probably damaging Het
Brca1 G A 11: 101,415,195 (GRCm39) P119S possibly damaging Het
Chid1 A G 7: 141,110,142 (GRCm39) V62A probably damaging Het
Cpa1 A T 6: 30,642,968 (GRCm39) I299F probably benign Het
Cuzd1 A G 7: 130,917,865 (GRCm39) V245A probably damaging Het
Ddx39b T C 17: 35,465,937 (GRCm39) S71P probably benign Het
Ddx42 A G 11: 106,138,325 (GRCm39) Y708C probably damaging Het
Dnah3 C A 7: 119,550,820 (GRCm39) L3166F probably benign Het
Erap1 A G 13: 74,816,213 (GRCm39) E114G probably benign Het
Fap G A 2: 62,354,545 (GRCm39) T448I possibly damaging Het
Fhl2 A T 1: 43,170,841 (GRCm39) Y158N probably benign Het
Fscb A G 12: 64,520,155 (GRCm39) V437A possibly damaging Het
Il18 A T 9: 50,490,629 (GRCm39) D88V probably damaging Het
Il5ra A T 6: 106,719,605 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,546 (GRCm39) Q302L probably damaging Het
Lrp2 A T 2: 69,322,776 (GRCm39) Y1857* probably null Het
Meis2 T C 2: 115,694,905 (GRCm39) T406A probably benign Het
Mre11a T A 9: 14,721,120 (GRCm39) S346R probably benign Het
Myh15 A T 16: 48,952,378 (GRCm39) K816M probably damaging Het
Mysm1 C T 4: 94,856,106 (GRCm39) probably null Het
Nyap1 C A 5: 137,736,346 (GRCm39) R47L probably damaging Het
Oas3 A G 5: 120,910,954 (GRCm39) Y209H probably damaging Het
Or2v2 T G 11: 49,003,680 (GRCm39) Y291S probably damaging Het
Or4g16 A G 2: 111,136,966 (GRCm39) R139G probably benign Het
Or6c209 A G 10: 129,483,498 (GRCm39) D167G probably benign Het
Or8b42 A G 9: 38,341,811 (GRCm39) I78V probably benign Het
Or8d6 T C 9: 39,853,976 (GRCm39) V140A probably benign Het
Pde4b T C 4: 102,363,241 (GRCm39) probably null Het
Psd3 G A 8: 68,361,165 (GRCm39) T99M probably damaging Het
Rabgap1l A C 1: 160,566,539 (GRCm39) C58W probably benign Het
Rasd1 A G 11: 59,855,117 (GRCm39) I121T probably damaging Het
Spta1 A G 1: 174,041,051 (GRCm39) N1284D probably benign Het
Tpr T C 1: 150,285,891 (GRCm39) V525A possibly damaging Het
Other mutations in R3hcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02089:R3hcc1 APN 14 69,937,475 (GRCm39) missense possibly damaging 0.90
R3737:R3hcc1 UTSW 14 69,935,042 (GRCm39) missense probably benign 0.33
R4041:R3hcc1 UTSW 14 69,944,111 (GRCm39) missense probably damaging 1.00
R4512:R3hcc1 UTSW 14 69,936,060 (GRCm39) missense probably damaging 1.00
R5058:R3hcc1 UTSW 14 69,941,463 (GRCm39) missense probably damaging 1.00
R5159:R3hcc1 UTSW 14 69,935,053 (GRCm39) critical splice acceptor site probably null
R5520:R3hcc1 UTSW 14 69,936,057 (GRCm39) nonsense probably null
R6910:R3hcc1 UTSW 14 69,935,024 (GRCm39) missense probably damaging 1.00
R7019:R3hcc1 UTSW 14 69,941,574 (GRCm39) missense probably damaging 1.00
R7148:R3hcc1 UTSW 14 69,943,001 (GRCm39) missense possibly damaging 0.92
R7392:R3hcc1 UTSW 14 69,943,329 (GRCm39) critical splice acceptor site probably null
R7792:R3hcc1 UTSW 14 69,942,957 (GRCm39) missense probably benign
R7975:R3hcc1 UTSW 14 69,944,593 (GRCm39) missense probably damaging 1.00
R8393:R3hcc1 UTSW 14 69,942,890 (GRCm39) missense probably benign 0.15
Z1177:R3hcc1 UTSW 14 69,942,776 (GRCm39) missense possibly damaging 0.79
Posted On 2013-06-21