Incidental Mutation 'R3737:R3hcc1'
ID 270196
Institutional Source Beutler Lab
Gene Symbol R3hcc1
Ensembl Gene ENSMUSG00000034194
Gene Name R3H domain and coiled-coil containing 1
Synonyms 1700020M16Rik
MMRRC Submission 040724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3737 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 69934756-69945033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69935042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 262 (R262Q)
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 benign
Transcript: ENSMUST00000118374
AA Change: R448Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: R448Q

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121142
AA Change: R448Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: R448Q

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138326
Predicted Effect probably benign
Transcript: ENSMUST00000194548
AA Change: R262Q

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141254
Gene: ENSMUSG00000034194
AA Change: R262Q

DomainStartEndE-ValueType
coiled coil region 52 132 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216152
AA Change: R448Q

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Bicral A T 17: 47,136,836 (GRCm39) Y125N probably damaging Het
Brd2 A G 17: 34,336,054 (GRCm39) L53S probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Clca3a1 A G 3: 144,436,482 (GRCm39) V867A probably benign Het
Dchs1 T A 7: 105,411,523 (GRCm39) D1531V possibly damaging Het
Dnah9 G A 11: 66,047,734 (GRCm39) Q29* probably null Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Fgfbp1 T C 5: 44,136,938 (GRCm39) Y118C probably damaging Het
Gal3st2c A G 1: 93,937,050 (GRCm39) I332V possibly damaging Het
Gprc6a A C 10: 51,503,007 (GRCm39) N285K probably benign Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Il36rn T C 2: 24,171,215 (GRCm39) F101S probably damaging Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Kctd9 G A 14: 67,971,737 (GRCm39) D157N possibly damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Mon2 A G 10: 122,849,280 (GRCm39) L1340P probably damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 C CAGT 19: 46,069,816 (GRCm39) probably benign Het
Nolc1 CAG CAGTAG 19: 46,069,792 (GRCm39) probably benign Het
Nolc1 GCA GCAACA 19: 46,069,809 (GRCm39) probably benign Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Pcm1 T A 8: 41,714,080 (GRCm39) Y215* probably null Het
Pde6c T A 19: 38,128,672 (GRCm39) V212D probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Ska3 A T 14: 58,049,053 (GRCm39) M306K probably benign Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tprg1l T C 4: 154,244,585 (GRCm39) I137V probably benign Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ube2j1 A T 4: 33,036,723 (GRCm39) M16L probably benign Het
Ubr3 G A 2: 69,801,578 (GRCm39) probably null Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Usp49 G A 17: 47,983,243 (GRCm39) V83M probably damaging Het
Usp6nl C A 2: 6,445,728 (GRCm39) N568K probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r55 T G 7: 5,150,195 (GRCm39) D76A probably damaging Het
Xrcc6 T C 15: 81,913,832 (GRCm39) Y53H probably damaging Het
Zbtb7c T G 18: 76,270,011 (GRCm39) L33R 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
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
Predicted Primers PCR Primer
(F):5'- TCTGTAAAGGCGTGTGGTAC -3'
(R):5'- ACCCCTACTGCACAGATGAG -3'

Sequencing Primer
(F):5'- TAAAGGCGTGTGGTACTGGGC -3'
(R):5'- CTACTGCACAGATGAGCCAGG -3'
Posted On 2015-03-18