Incidental Mutation 'R5058:R3hcc1'
ID 391049
Institutional Source Beutler Lab
Gene Symbol R3hcc1
Ensembl Gene ENSMUSG00000034194
Gene Name R3H domain and coiled-coil containing 1
Synonyms 1700020M16Rik
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 69934756-69945033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69941463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 183 (I183N)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118374] [ENSMUST00000121142] [ENSMUST00000216152]
AlphaFold Q8BSI6
Predicted Effect probably damaging
Transcript: ENSMUST00000118374
AA Change: I369N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: I369N

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: I369N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: I369N

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 noncoding transcript
Transcript: ENSMUST00000147609
Predicted Effect probably damaging
Transcript: ENSMUST00000194548
AA Change: I183N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141254
Gene: ENSMUSG00000034194
AA Change: I183N

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: I369N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.8247 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P 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
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
Predicted Primers PCR Primer
(F):5'- TCAGTCAGAGCCATCAGGTG -3'
(R):5'- CCTGTCATTTTGGAAAGCATAGGC -3'

Sequencing Primer
(F):5'- AGAGCCATCAGGTGCACCC -3'
(R):5'- TTTGCTCCCAGATCACAG -3'
Posted On 2016-06-06