Incidental Mutation 'R1641:R3hcc1l'
ID173575
Institutional Source Beutler Lab
Gene Symbol R3hcc1l
Ensembl Gene ENSMUSG00000025184
Gene NameR3H domain and coiled-coil containing 1 like
SynonymsD19Ertd386e, 1700036B12Rik
MMRRC Submission 039677-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1641 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location42518759-42592343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 42563607 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 348 (S348P)
Ref Sequence ENSEMBL: ENSMUSP00000026188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026188] [ENSMUST00000160107] [ENSMUST00000160893]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026188
AA Change: S348P

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: S348P

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 benign
Transcript: ENSMUST00000160107
SMART Domains Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184

DomainStartEndE-ValueType
low complexity region 114 126 N/A INTRINSIC
coiled coil region 154 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162829
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,228,959 T2230A probably benign Het
Aasdh T A 5: 76,891,779 T228S probably benign Het
Adamts2 C T 11: 50,792,785 P965S probably damaging Het
Ankrd11 A G 8: 122,891,746 I1768T probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Baz2b A T 2: 59,912,890 L1579Q probably damaging Het
Btbd7 A G 12: 102,790,775 V684A probably damaging Het
Camk1g T A 1: 193,356,357 I86F probably benign Het
Capn13 A T 17: 73,382,894 S41T possibly damaging Het
Cep192 C A 18: 67,847,433 L1422I probably damaging Het
Chaf1a T C 17: 56,047,380 F217L unknown Het
Clca3b A T 3: 144,823,513 M800K possibly damaging Het
Crocc A G 4: 141,017,077 V1836A probably benign Het
Csmd2 G A 4: 128,483,395 V2023M possibly damaging Het
Cul9 A G 17: 46,543,560 V72A possibly damaging Het
Ddx52 T C 11: 83,943,443 probably null Het
Dennd5b A C 6: 149,068,205 V250G probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Gtpbp4 A T 13: 8,973,249 M593K probably benign Het
Il21 A G 3: 37,232,532 F12L probably benign Het
Lrit2 T A 14: 37,069,148 N261K probably benign Het
Lrrc39 G T 3: 116,570,913 C151F probably damaging Het
Lsm14a C A 7: 34,351,374 R426L probably damaging Het
Maml1 G A 11: 50,266,947 P134S probably benign Het
Map3k13 T C 16: 21,903,792 C235R probably damaging Het
Naip2 C T 13: 100,161,981 A516T possibly damaging Het
Nsmaf T C 4: 6,409,884 E663G probably benign Het
Ntrk3 T C 7: 78,356,074 N513S probably damaging Het
Nufip1 T G 14: 76,126,252 N305K possibly damaging Het
Olfr121 C T 17: 37,752,025 T57I possibly damaging Het
Olfr1257 A T 2: 89,881,401 T192S probably benign Het
Olfr575 T A 7: 102,954,968 D218V probably benign Het
Olfr694 T A 7: 106,689,711 T7S probably benign Het
Olfr823 A T 10: 130,112,003 Y262* probably null Het
Pi4ka A G 16: 17,377,030 V168A probably benign Het
Prex2 T C 1: 11,231,772 V1433A probably damaging Het
Prl7a1 A T 13: 27,633,629 D217E probably damaging Het
Prr3 G A 17: 35,974,592 R86* probably null Het
Ptprz1 T C 6: 23,049,606 F1350L probably damaging Het
Rag2 A T 2: 101,629,615 Q90L probably benign Het
Scel T C 14: 103,533,316 L62P probably damaging Het
Serpini1 A T 3: 75,614,670 E156V possibly damaging Het
Skint4 T A 4: 112,136,043 I321K possibly damaging Het
Slc28a2 A G 2: 122,455,617 D478G probably damaging Het
Sppl2b G T 10: 80,865,131 V164F probably damaging Het
Traf5 T A 1: 191,997,509 N527I probably benign Het
Ttc3 T A 16: 94,443,317 D17E probably benign Het
Txlnb G A 10: 17,806,773 A148T possibly damaging Het
Ubtf A G 11: 102,310,931 Y256H probably damaging Het
Usp25 T C 16: 77,071,671 F320S possibly damaging Het
Utp14b T C 1: 78,665,939 V518A probably benign Het
Utp20 A G 10: 88,757,972 V2192A possibly damaging Het
Vmn1r173 T A 7: 23,703,108 M256K probably benign Het
Vmn2r114 T A 17: 23,296,988 M510L probably benign Het
Xdh T A 17: 73,926,552 Q189L probably benign Het
Zfat C T 15: 68,180,110 A605T probably benign Het
Other mutations in R3hcc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:R3hcc1l APN 19 42563952 missense probably benign 0.04
IGL01731:R3hcc1l APN 19 42562801 missense probably benign 0.01
IGL01921:R3hcc1l APN 19 42563781 missense possibly damaging 0.87
IGL01933:R3hcc1l APN 19 42562950 missense probably damaging 0.99
IGL02047:R3hcc1l APN 19 42563819 missense probably benign 0.20
IGL02658:R3hcc1l APN 19 42562702 missense probably damaging 0.99
IGL02952:R3hcc1l APN 19 42563994 missense probably damaging 0.97
R0233:R3hcc1l UTSW 19 42582921 critical splice donor site probably null
R0233:R3hcc1l UTSW 19 42582921 critical splice donor site probably null
R0254:R3hcc1l UTSW 19 42563148 missense probably damaging 1.00
R0285:R3hcc1l UTSW 19 42576129 missense probably damaging 1.00
R0483:R3hcc1l UTSW 19 42562556 utr 5 prime probably benign
R0727:R3hcc1l UTSW 19 42576075 missense probably damaging 1.00
R1052:R3hcc1l UTSW 19 42563654 missense probably damaging 0.99
R1061:R3hcc1l UTSW 19 42583426 nonsense probably null
R1570:R3hcc1l UTSW 19 42581954 missense probably damaging 1.00
R2378:R3hcc1l UTSW 19 42563473 missense probably damaging 0.99
R2696:R3hcc1l UTSW 19 42563988 missense possibly damaging 0.94
R3051:R3hcc1l UTSW 19 42562625 nonsense probably null
R3053:R3hcc1l UTSW 19 42562625 nonsense probably null
R4471:R3hcc1l UTSW 19 42582820 splice site probably benign
R4643:R3hcc1l UTSW 19 42562800 missense probably benign 0.09
R4772:R3hcc1l UTSW 19 42583557 splice site probably benign
R5524:R3hcc1l UTSW 19 42563868 nonsense probably null
R5976:R3hcc1l UTSW 19 42563350 missense probably benign 0.06
R6965:R3hcc1l UTSW 19 42562845 missense probably damaging 1.00
R7086:R3hcc1l UTSW 19 42581970 missense probably damaging 0.99
R7158:R3hcc1l UTSW 19 42583429 missense probably damaging 1.00
R7317:R3hcc1l UTSW 19 42583540 nonsense probably null
R7447:R3hcc1l UTSW 19 42562662 missense probably benign 0.02
X0064:R3hcc1l UTSW 19 42583545 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCTGTTCCTGGAGGTCCAGATGAAG -3'
(R):5'- AACTGCACCTGTACAAGAGCTGCC -3'

Sequencing Primer
(F):5'- GTACAGTCAACAGTACAGAGTCTGTC -3'
(R):5'- AGAGCTGCCTTCAGTTACAG -3'
Posted On2014-04-24