Incidental Mutation 'R7158:R3hcc1l'
ID 557476
Institutional Source Beutler Lab
Gene Symbol R3hcc1l
Ensembl Gene ENSMUSG00000025184
Gene Name R3H domain and coiled-coil containing 1 like
Synonyms 1700036B12Rik, D19Ertd386e
MMRRC Submission 045329-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7158 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 42507198-42580782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42571868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 716 (P716S)
Ref Sequence ENSEMBL: ENSMUSP00000026188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026188] [ENSMUST00000160107]
AlphaFold Q8BJM3
Predicted Effect probably damaging
Transcript: ENSMUST00000026188
AA Change: P716S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: P716S

DomainStartEndE-ValueType
low complexity region 163 178 N/A INTRINSIC
low complexity region 694 706 N/A INTRINSIC
coiled coil region 734 766 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160107
AA Change: P136S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184
AA Change: P136S

DomainStartEndE-ValueType
low complexity region 114 126 N/A INTRINSIC
coiled coil region 154 186 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,223,982 (GRCm39) M454L probably benign Het
Abca8b T A 11: 109,825,415 (GRCm39) E1595V probably damaging Het
Actr5 T A 2: 158,468,334 (GRCm39) C155S possibly damaging Het
Acvr1b T A 15: 101,091,939 (GRCm39) V73E probably benign Het
Add2 T C 6: 86,062,934 (GRCm39) Y31H probably damaging Het
Akap13 G T 7: 75,229,342 (GRCm39) V92F probably damaging Het
Alox8 T A 11: 69,076,696 (GRCm39) M568L probably benign Het
Birc6 A T 17: 74,901,371 (GRCm39) E1145V probably benign Het
Bltp3a T A 17: 28,105,407 (GRCm39) C644* probably null Het
Cacng1 A T 11: 107,594,665 (GRCm39) M166K probably damaging Het
Ces1f A G 8: 93,994,644 (GRCm39) F256L probably benign Het
Clpb A G 7: 101,313,039 (GRCm39) R8G probably benign Het
Col6a5 A G 9: 105,741,407 (GRCm39) V2504A possibly damaging Het
Coq8a T C 1: 180,006,749 (GRCm39) D93G probably benign Het
Cry2 A T 2: 92,244,060 (GRCm39) I371N probably damaging Het
Ddx43 A C 9: 78,319,501 (GRCm39) Q276H probably damaging Het
Dock10 T C 1: 80,564,589 (GRCm39) probably null Het
Dst A G 1: 34,313,366 (GRCm39) T4378A probably benign Het
Fezf1 T C 6: 23,245,789 (GRCm39) T459A probably benign Het
Gm10097 C T 10: 5,019,407 (GRCm39) A72V unknown Het
Hydin A G 8: 111,336,303 (GRCm39) S5027G possibly damaging Het
Inhbb A T 1: 119,348,752 (GRCm39) L22* probably null Het
Kat8 G A 7: 127,521,331 (GRCm39) G228S probably benign Het
Kif15 T A 9: 122,828,379 (GRCm39) S897T probably benign Het
Kndc1 A G 7: 139,511,773 (GRCm39) Y1460C possibly damaging Het
Krt78 T A 15: 101,860,241 (GRCm39) D225V probably benign Het
Lama3 A T 18: 12,589,869 (GRCm39) I800F probably benign Het
Mdn1 C A 4: 32,725,121 (GRCm39) T2580K probably benign Het
Mest T C 6: 30,744,913 (GRCm39) F201S possibly damaging Het
Mtmr9 A G 14: 63,764,318 (GRCm39) F470L probably benign Het
Nfic C T 10: 81,256,439 (GRCm39) R75Q probably damaging Het
Nme2 G A 11: 93,846,484 (GRCm39) probably benign Het
Nrg4 A G 9: 55,149,384 (GRCm39) L71P probably damaging Het
Pacsin2 C T 15: 83,263,943 (GRCm39) E365K possibly damaging Het
Pappa T C 4: 65,123,104 (GRCm39) I813T possibly damaging Het
Pcdhgb4 A G 18: 37,853,938 (GRCm39) E111G probably damaging Het
Pdzd8 C T 19: 59,288,589 (GRCm39) R937H probably damaging Het
Per1 T G 11: 68,994,930 (GRCm39) probably benign Het
Pex2 A G 3: 5,626,396 (GRCm39) F138L probably benign Het
Pold1 A T 7: 44,188,290 (GRCm39) N529K probably damaging Het
Pou6f2 T C 13: 18,326,623 (GRCm39) I316V Het
Prom1 A C 5: 44,170,255 (GRCm39) I682S probably damaging Het
Prpf40a T C 2: 53,042,565 (GRCm39) K481E probably damaging Het
Prrg4 A T 2: 104,662,958 (GRCm39) V216E probably damaging Het
Ptch2 C T 4: 116,971,981 (GRCm39) P1168S possibly damaging Het
Pvr C A 7: 19,652,562 (GRCm39) E118* probably null Het
Rasa4 A G 5: 136,130,875 (GRCm39) E382G probably damaging Het
Rbp3 T A 14: 33,677,513 (GRCm39) M487K probably benign Het
Rsad2 A T 12: 26,500,779 (GRCm39) probably null Het
Shmt1 T C 11: 60,681,068 (GRCm39) I353V probably benign Het
Shprh C T 10: 11,042,474 (GRCm39) T819I probably damaging Het
Skap1 T A 11: 96,416,883 (GRCm39) F56Y possibly damaging Het
Slc22a16 G T 10: 40,449,737 (GRCm39) V79L possibly damaging Het
Slc34a1 A G 13: 55,549,044 (GRCm39) T165A probably damaging Het
Smchd1 A C 17: 71,707,145 (GRCm39) I941R probably damaging Het
Syne1 C A 10: 5,007,931 (GRCm39) V98F probably damaging Het
Tcaim A G 9: 122,648,055 (GRCm39) D190G possibly damaging Het
Tdrd9 G C 12: 112,002,800 (GRCm39) E816D probably benign Het
Tmem132d T C 5: 128,214,083 (GRCm39) K326E possibly damaging Het
Usp35 T C 7: 96,975,171 (GRCm39) M1V probably null Het
Wdr62 C T 7: 29,970,163 (GRCm39) V215I possibly damaging Het
Zan T C 5: 137,398,906 (GRCm39) T4153A unknown Het
Zfp239 G T 6: 117,848,690 (GRCm39) E143* probably null Het
Zfp292 T C 4: 34,808,679 (GRCm39) D1460G probably benign Het
Zfp647 C T 15: 76,801,505 (GRCm39) G90R probably benign Het
Other mutations in R3hcc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:R3hcc1l APN 19 42,552,391 (GRCm39) missense probably benign 0.04
IGL01731:R3hcc1l APN 19 42,551,240 (GRCm39) missense probably benign 0.01
IGL01921:R3hcc1l APN 19 42,552,220 (GRCm39) missense possibly damaging 0.87
IGL01933:R3hcc1l APN 19 42,551,389 (GRCm39) missense probably damaging 0.99
IGL02047:R3hcc1l APN 19 42,552,258 (GRCm39) missense probably benign 0.20
IGL02658:R3hcc1l APN 19 42,551,141 (GRCm39) missense probably damaging 0.99
IGL02952:R3hcc1l APN 19 42,552,433 (GRCm39) missense probably damaging 0.97
R0233:R3hcc1l UTSW 19 42,571,360 (GRCm39) critical splice donor site probably null
R0233:R3hcc1l UTSW 19 42,571,360 (GRCm39) critical splice donor site probably null
R0254:R3hcc1l UTSW 19 42,551,587 (GRCm39) missense probably damaging 1.00
R0285:R3hcc1l UTSW 19 42,564,568 (GRCm39) missense probably damaging 1.00
R0483:R3hcc1l UTSW 19 42,550,995 (GRCm39) utr 5 prime probably benign
R0727:R3hcc1l UTSW 19 42,564,514 (GRCm39) missense probably damaging 1.00
R1052:R3hcc1l UTSW 19 42,552,093 (GRCm39) missense probably damaging 0.99
R1061:R3hcc1l UTSW 19 42,571,865 (GRCm39) nonsense probably null
R1570:R3hcc1l UTSW 19 42,570,393 (GRCm39) missense probably damaging 1.00
R1641:R3hcc1l UTSW 19 42,552,046 (GRCm39) missense possibly damaging 0.87
R2378:R3hcc1l UTSW 19 42,551,912 (GRCm39) missense probably damaging 0.99
R2696:R3hcc1l UTSW 19 42,552,427 (GRCm39) missense possibly damaging 0.94
R3051:R3hcc1l UTSW 19 42,551,064 (GRCm39) nonsense probably null
R3053:R3hcc1l UTSW 19 42,551,064 (GRCm39) nonsense probably null
R4471:R3hcc1l UTSW 19 42,571,259 (GRCm39) splice site probably benign
R4643:R3hcc1l UTSW 19 42,551,239 (GRCm39) missense probably benign 0.09
R4772:R3hcc1l UTSW 19 42,571,996 (GRCm39) splice site probably benign
R5524:R3hcc1l UTSW 19 42,552,307 (GRCm39) nonsense probably null
R5976:R3hcc1l UTSW 19 42,551,789 (GRCm39) missense probably benign 0.06
R6965:R3hcc1l UTSW 19 42,551,284 (GRCm39) missense probably damaging 1.00
R7086:R3hcc1l UTSW 19 42,570,409 (GRCm39) missense probably damaging 0.99
R7317:R3hcc1l UTSW 19 42,571,979 (GRCm39) nonsense probably null
R7447:R3hcc1l UTSW 19 42,551,101 (GRCm39) missense probably benign 0.02
R7792:R3hcc1l UTSW 19 42,552,403 (GRCm39) missense probably damaging 0.96
R8222:R3hcc1l UTSW 19 42,564,616 (GRCm39) missense probably damaging 1.00
R8756:R3hcc1l UTSW 19 42,552,073 (GRCm39) missense probably damaging 0.99
R9204:R3hcc1l UTSW 19 42,552,301 (GRCm39) missense probably benign 0.02
R9514:R3hcc1l UTSW 19 42,507,203 (GRCm39) unclassified probably benign
R9664:R3hcc1l UTSW 19 42,552,671 (GRCm39) missense probably benign 0.03
X0064:R3hcc1l UTSW 19 42,571,984 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGTGTTAATGCAGATAATACAGCCC -3'
(R):5'- CACGTGCCTCATAGTGAAGC -3'

Sequencing Primer
(F):5'- CAGATAATACAGCCCGGCTTGTTTG -3'
(R):5'- CTCATAGTGAAGCCCTTGTGGAC -3'
Posted On 2019-06-26