Incidental Mutation 'IGL02089:R3hcc1'
ID 279368
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 # IGL02089
Quality Score
Status
Chromosome 14
Chromosomal Location 69934756-69945033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69937475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 391 (K391E)
Ref Sequence ENSEMBL: ENSMUSP00000150058 (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 possibly damaging
Transcript: ENSMUST00000118374
AA Change: K391E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: K391E

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121142
AA Change: K391E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: K391E

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 possibly damaging
Transcript: ENSMUST00000216152
AA Change: K391E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 68,951,013 (GRCm39) silent Het
Adck1 G T 12: 88,413,480 (GRCm39) V271F probably damaging Het
Aggf1 T C 13: 95,507,437 (GRCm39) D116G probably benign Het
Anapc1 A T 2: 128,505,853 (GRCm39) V661E probably damaging Het
Apoa5 T C 9: 46,180,437 (GRCm39) probably null Het
Atp8a2 C T 14: 60,264,369 (GRCm39) probably null Het
Bnipl A T 3: 95,157,577 (GRCm39) probably benign Het
Cbs T G 17: 31,834,519 (GRCm39) D490A probably benign Het
Chrdl1 G T X: 142,086,510 (GRCm39) H199N possibly damaging Het
Dcaf1 C T 9: 106,740,310 (GRCm39) T1232I probably benign Het
Ddx19b T C 8: 111,735,477 (GRCm39) probably benign Het
Ephb4 A G 5: 137,369,024 (GRCm39) K805E probably damaging Het
Ergic3 A G 2: 155,852,395 (GRCm39) N135D probably benign Het
Fbxw18 C T 9: 109,530,390 (GRCm39) V74I probably benign Het
Fmo4 G T 1: 162,626,649 (GRCm39) T299N probably benign Het
Gmeb1 T C 4: 131,953,147 (GRCm39) K540E probably damaging Het
H60c T A 10: 3,209,826 (GRCm39) S154C possibly damaging Het
Herc1 T C 9: 66,388,151 (GRCm39) L3812S probably damaging Het
Hipk3 T C 2: 104,261,724 (GRCm39) D937G probably damaging Het
Ift122 A G 6: 115,902,398 (GRCm39) D1079G probably benign Het
Il6st T C 13: 112,631,774 (GRCm39) W438R probably benign Het
Lypla2 C T 4: 135,696,932 (GRCm39) V117I probably benign Het
Mapk8ip1 T C 2: 92,216,220 (GRCm39) Y516C probably damaging Het
Mmp24 G A 2: 155,654,213 (GRCm39) G397D probably damaging Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Muc5b T G 7: 141,416,987 (GRCm39) V3311G probably benign Het
Naca A G 10: 127,872,358 (GRCm39) probably benign Het
Nrxn1 A G 17: 91,395,829 (GRCm39) V109A probably benign Het
Nup210 T G 6: 91,053,680 (GRCm39) D279A probably benign Het
Or10g6 A T 9: 39,934,066 (GRCm39) I126F probably damaging Het
Or8h7 A G 2: 86,721,460 (GRCm39) S20P possibly damaging Het
Pappa T A 4: 65,074,361 (GRCm39) V305E possibly damaging Het
Pcdh19 A T X: 132,489,245 (GRCm39) M977K probably benign Het
Pdzph1 T A 17: 59,274,334 (GRCm39) I837F possibly damaging Het
Phip A T 9: 82,753,372 (GRCm39) L1791M probably damaging Het
Pkdrej C T 15: 85,700,489 (GRCm39) V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,447 (GRCm39) V1063M probably damaging Het
Qprt A T 7: 126,707,528 (GRCm39) M220K probably damaging Het
Rbbp7 C A X: 161,554,052 (GRCm39) P162Q probably benign Het
Rev3l A T 10: 39,701,095 (GRCm39) N1864I probably damaging Het
Rims1 A G 1: 22,669,556 (GRCm39) I84T possibly damaging Het
Rnase2b A T 14: 51,400,240 (GRCm39) K107I probably benign Het
Sbf1 C A 15: 89,186,708 (GRCm39) E864* probably null Het
Strip2 G A 6: 29,917,179 (GRCm39) probably benign Het
Stx4a T C 7: 127,447,570 (GRCm39) I238T probably damaging Het
Tbc1d2b C T 9: 90,104,412 (GRCm39) V577I possibly damaging Het
Tex38 T C 4: 115,637,591 (GRCm39) T71A possibly damaging Het
Usp38 T C 8: 81,712,343 (GRCm39) E564G possibly damaging Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Wwp2 T A 8: 108,280,689 (GRCm39) L644Q probably damaging Het
Zfp267 T C 3: 36,218,877 (GRCm39) F300S possibly damaging Het
Zpld1 A G 16: 55,071,974 (GRCm39) I95T probably benign Het
Other mutations in R3hcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:R3hcc1 APN 14 69,937,477 (GRCm39) missense probably damaging 0.99
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 2015-04-16