Incidental Mutation 'R6910:R3hcc1'
ID 538989
Institutional Source Beutler Lab
Gene Symbol R3hcc1
Ensembl Gene ENSMUSG00000034194
Gene Name R3H domain and coiled-coil containing 1
Synonyms 1700020M16Rik
MMRRC Submission 045002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6910 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 69934756-69945033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69935024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 454 (P454L)
Ref Sequence ENSEMBL: ENSMUSP00000150058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022660] [ENSMUST00000100420] [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 benign
Transcript: ENSMUST00000100420
SMART Domains Protein: ENSMUSP00000097987
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 550 750 1.1e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118374
AA Change: P454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: P454L

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: P454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: P454L

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000216152
AA Change: P454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7561 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap54 A G 10: 92,672,374 (GRCm39) S2899P probably benign Het
Chil5 A G 3: 105,926,977 (GRCm39) W82R probably damaging Het
Dennd3 A G 15: 73,426,965 (GRCm39) T781A probably benign Het
Epha2 A G 4: 141,048,824 (GRCm39) D597G probably damaging Het
Gcn1 A G 5: 115,744,597 (GRCm39) T1598A probably benign Het
Glp2r A G 11: 67,621,497 (GRCm39) F162S probably benign Het
Gm17655 T A 5: 110,195,039 (GRCm39) R248* probably null Het
Gnptab G A 10: 88,267,258 (GRCm39) G450S probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Hapln2 A G 3: 87,931,135 (GRCm39) Y127H probably damaging Het
Hdac4 G T 1: 91,909,875 (GRCm39) T463K probably damaging Het
Ift80 A C 3: 68,835,068 (GRCm39) S458A probably benign Het
Lama1 A G 17: 68,098,459 (GRCm39) D1846G possibly damaging Het
Map3k8 A G 18: 4,340,801 (GRCm39) I171T probably benign Het
Micu1 A G 10: 59,576,489 (GRCm39) E115G probably damaging Het
Mrpl39 A G 16: 84,532,080 (GRCm39) V9A unknown Het
Ncoa7 T G 10: 30,570,117 (GRCm39) I281L possibly damaging Het
Nms A G 1: 38,980,976 (GRCm39) E54G probably benign Het
Nrip1 G A 16: 76,091,305 (GRCm39) A84V probably damaging Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or11g27 G A 14: 50,771,330 (GRCm39) V154M probably benign Het
Pcdhga10 T A 18: 37,881,285 (GRCm39) S349T probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr3 T C 2: 112,788,520 (GRCm39) D170G probably damaging Het
Sanbr A G 11: 23,570,447 (GRCm39) V151A probably damaging Het
Scp2 C A 4: 107,962,283 (GRCm39) G81C probably damaging Het
Sez6 A G 11: 77,844,695 (GRCm39) T173A possibly damaging Het
Syne1 T C 10: 4,998,887 (GRCm39) H8142R probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf11a A G 1: 105,772,272 (GRCm39) T520A probably damaging Het
Tpm1 A G 9: 66,939,256 (GRCm39) S170P probably damaging Het
Try5 T C 6: 41,288,733 (GRCm39) D54G possibly damaging Het
Vmn2r-ps158 T C 7: 42,673,475 (GRCm39) F178L probably benign Het
Zan T C 5: 137,417,342 (GRCm39) E3041G unknown Het
Zfp1001 A T 2: 150,165,987 (GRCm39) Q56L probably benign Het
Zfp616 A T 11: 73,975,828 (GRCm39) H699L probably damaging Het
Other mutations in R3hcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:R3hcc1 APN 14 69,937,477 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AACTAAAGCCTGCTGTGCC -3'
(R):5'- GAAATATGGGCCTGGAGTCCTC -3'

Sequencing Primer
(F):5'- TAAAGCCTGCTGTGCCCCATAG -3'
(R):5'- TCCTGGACCCCTCTCACAAG -3'
Posted On 2018-11-06