Incidental Mutation 'R7252:Rhbdl3'
ID 564022
Institutional Source Beutler Lab
Gene Symbol Rhbdl3
Ensembl Gene ENSMUSG00000017692
Gene Name rhomboid like 3
Synonyms Rhbdl4, Ventrhoid, Vrho
MMRRC Submission 045385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7252 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 80191738-80246781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80228411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 294 (M294L)
Ref Sequence ENSEMBL: ENSMUSP00000017836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017836]
AlphaFold P58873
Predicted Effect possibly damaging
Transcript: ENSMUST00000017836
AA Change: M294L

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692
AA Change: M294L

DomainStartEndE-ValueType
SCOP:d1c7va_ 36 104 2e-12 SMART
Blast:EFh 38 66 6e-11 BLAST
PDB:2RRT|A 43 102 6e-6 PDB
Blast:EFh 74 102 9e-10 BLAST
transmembrane domain 162 184 N/A INTRINSIC
Pfam:Rhomboid 205 362 1.6e-34 PFAM
transmembrane domain 370 392 N/A INTRINSIC
Meta Mutation Damage Score 0.1912 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (81/82)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Abcc2 T A 19: 43,816,388 (GRCm39) I1226N probably damaging Het
Adarb2 A G 13: 8,620,216 (GRCm39) E234G probably benign Het
Ankrd52 T C 10: 128,217,865 (GRCm39) S282P probably damaging Het
Arhgef12 A T 9: 42,927,205 (GRCm39) S306R probably benign Het
Baiap2 G T 11: 119,893,865 (GRCm39) A514S probably benign Het
BC030500 T A 8: 59,364,838 (GRCm39) probably null Het
C1qtnf12 T A 4: 156,047,072 (GRCm39) W13R unknown Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Cct8 T C 16: 87,281,807 (GRCm39) E485G probably benign Het
Cep85 T C 4: 133,875,342 (GRCm39) D542G probably benign Het
Clhc1 T A 11: 29,513,937 (GRCm39) S340R probably benign Het
Cnot4 A T 6: 35,046,362 (GRCm39) D168E probably damaging Het
Cntn5 G A 9: 9,831,640 (GRCm39) T375I probably benign Het
Ctc1 T A 11: 68,917,000 (GRCm39) I298N probably damaging Het
Dchs2 T A 3: 83,232,610 (GRCm39) N2198K probably benign Het
Ddx6 G A 9: 44,535,050 (GRCm39) probably null Het
Defb11 A G 8: 22,395,473 (GRCm39) I68T probably benign Het
Dip2a C T 10: 76,109,036 (GRCm39) V1212I not run Het
Dop1a T A 9: 86,382,874 (GRCm39) I269N probably damaging Het
Efna3 C T 3: 89,223,971 (GRCm39) G73S possibly damaging Het
Fam98b C G 2: 117,094,373 (GRCm39) R228G probably damaging Het
Fancd2 A T 6: 113,533,246 (GRCm39) N521I probably damaging Het
Farsa A G 8: 85,587,957 (GRCm39) D134G probably damaging Het
Fat2 A T 11: 55,202,088 (GRCm39) F329I probably damaging Het
Gm14399 A T 2: 174,974,991 (GRCm39) I43K probably damaging Het
Gpr15 A G 16: 58,538,760 (GRCm39) S110P probably damaging Het
Gpr157 T C 4: 150,183,331 (GRCm39) V167A probably benign Het
Hacd4 A G 4: 88,345,000 (GRCm39) I134T possibly damaging Het
Hpgd T A 8: 56,751,461 (GRCm39) N96K probably damaging Het
Insm2 A T 12: 55,647,305 (GRCm39) T350S probably benign Het
Iqch C T 9: 63,419,518 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,147 (GRCm39) S4338P unknown Het
Krtap9-3 A G 11: 99,488,796 (GRCm39) S29P probably benign Het
Kyat3 T A 3: 142,426,219 (GRCm39) S87T probably benign Het
Minar2 A G 18: 59,199,980 (GRCm39) probably null Het
Mrpl46 T C 7: 78,430,336 (GRCm39) T145A probably benign Het
Neb A G 2: 52,214,973 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,249 (GRCm39) H55Q probably damaging Het
Or4c124 T A 2: 89,156,629 (GRCm39) probably benign Het
Or6x1 C T 9: 40,098,657 (GRCm39) T82I probably benign Het
Or7g17 A G 9: 18,768,548 (GRCm39) Y200C probably damaging Het
Or9a7 A G 6: 40,521,703 (GRCm39) I70T probably benign Het
Otogl T C 10: 107,657,804 (GRCm39) D1042G probably benign Het
Paxip1 C T 5: 27,965,084 (GRCm39) V659I probably damaging Het
Pfkl A G 10: 77,829,263 (GRCm39) W382R probably damaging Het
Pfn1 A G 11: 70,545,297 (GRCm39) W4R probably damaging Het
Pik3c2b G A 1: 133,022,472 (GRCm39) R1138H probably benign Het
Pkd1l3 A G 8: 110,387,330 (GRCm39) D1758G probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pramel29 T C 4: 143,939,510 (GRCm39) D9G possibly damaging Het
Prdm12 A G 2: 31,532,386 (GRCm39) N132S possibly damaging Het
Prokr2 T A 2: 132,223,360 (GRCm39) M61L probably benign Het
Ralgapa2 T C 2: 146,184,671 (GRCm39) probably null Het
Ralgps1 A T 2: 33,058,200 (GRCm39) D301E probably benign Het
Rcbtb2 T C 14: 73,404,220 (GRCm39) Y231H probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Relb C A 7: 19,346,538 (GRCm39) E345* probably null Het
Rpl24 G A 16: 55,790,479 (GRCm39) A112T possibly damaging Het
Rsbn1l C T 5: 21,113,196 (GRCm39) R442Q probably damaging Het
Rxfp3 A T 15: 11,036,025 (GRCm39) I449N probably benign Het
Sema4c A C 1: 36,589,096 (GRCm39) C677G probably damaging Het
Sf3b3 A C 8: 111,566,562 (GRCm39) I256S probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slc39a6 G T 18: 24,734,442 (GRCm39) N82K possibly damaging Het
Slc3a2 T C 19: 8,700,521 (GRCm39) probably benign Het
Stard13 T C 5: 150,986,634 (GRCm39) Q292R probably benign Het
Tgm6 A G 2: 129,986,884 (GRCm39) R451G probably damaging Het
Tspo G T 15: 83,456,466 (GRCm39) G83V probably damaging Het
Ubxn10 T C 4: 138,448,187 (GRCm39) Q163R probably benign Het
Ushbp1 A G 8: 71,847,246 (GRCm39) S129P probably benign Het
Vmn2r23 T A 6: 123,718,540 (GRCm39) V631D probably damaging Het
Vmn2r24 T C 6: 123,764,191 (GRCm39) I356T possibly damaging Het
Vmn2r84 C T 10: 130,222,279 (GRCm39) C647Y probably damaging Het
Vps13a T C 19: 16,638,428 (GRCm39) E2356G probably benign Het
Wdr64 A G 1: 175,603,240 (GRCm39) T614A probably benign Het
Zdhhc16 G T 19: 41,929,990 (GRCm39) W271L probably damaging Het
Zer1 A C 2: 29,991,904 (GRCm39) S652A probably damaging Het
Zfp287 A G 11: 62,615,655 (GRCm39) V224A probably damaging Het
Zfp438 A T 18: 5,214,874 (GRCm39) L28* probably null Het
Zfp830 G A 11: 82,655,534 (GRCm39) A113T probably benign Het
Zfp865 G T 7: 5,037,416 (GRCm39) probably benign Het
Other mutations in Rhbdl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Rhbdl3 APN 11 80,244,268 (GRCm39) missense probably damaging 1.00
IGL02003:Rhbdl3 APN 11 80,228,342 (GRCm39) missense possibly damaging 0.82
IGL02302:Rhbdl3 APN 11 80,244,507 (GRCm39) makesense probably null
IGL02972:Rhbdl3 APN 11 80,222,742 (GRCm39) splice site probably benign
IGL03028:Rhbdl3 APN 11 80,214,287 (GRCm39) nonsense probably null
IGL03033:Rhbdl3 APN 11 80,237,653 (GRCm39) missense probably damaging 0.99
IGL03113:Rhbdl3 APN 11 80,244,439 (GRCm39) missense possibly damaging 0.69
R0193:Rhbdl3 UTSW 11 80,244,400 (GRCm39) missense possibly damaging 0.55
R0358:Rhbdl3 UTSW 11 80,244,457 (GRCm39) missense probably damaging 0.99
R0481:Rhbdl3 UTSW 11 80,214,175 (GRCm39) splice site probably benign
R0616:Rhbdl3 UTSW 11 80,222,687 (GRCm39) missense probably damaging 0.99
R1171:Rhbdl3 UTSW 11 80,244,418 (GRCm39) missense possibly damaging 0.52
R2166:Rhbdl3 UTSW 11 80,210,523 (GRCm39) missense probably damaging 1.00
R3500:Rhbdl3 UTSW 11 80,210,531 (GRCm39) missense probably damaging 0.98
R4580:Rhbdl3 UTSW 11 80,244,471 (GRCm39) missense probably damaging 1.00
R4900:Rhbdl3 UTSW 11 80,210,439 (GRCm39) missense probably benign 0.13
R5276:Rhbdl3 UTSW 11 80,210,492 (GRCm39) missense probably benign 0.07
R5513:Rhbdl3 UTSW 11 80,222,668 (GRCm39) missense probably damaging 0.99
R5595:Rhbdl3 UTSW 11 80,228,409 (GRCm39) missense probably damaging 0.99
R5941:Rhbdl3 UTSW 11 80,222,715 (GRCm39) missense probably benign 0.18
R6372:Rhbdl3 UTSW 11 80,221,482 (GRCm39) missense probably damaging 1.00
R6935:Rhbdl3 UTSW 11 80,228,322 (GRCm39) missense probably damaging 1.00
R7389:Rhbdl3 UTSW 11 80,237,665 (GRCm39) missense possibly damaging 0.95
R7404:Rhbdl3 UTSW 11 80,237,659 (GRCm39) missense probably damaging 1.00
R7745:Rhbdl3 UTSW 11 80,214,405 (GRCm39) missense possibly damaging 0.74
R7768:Rhbdl3 UTSW 11 80,221,447 (GRCm39) missense probably benign
R8669:Rhbdl3 UTSW 11 80,244,339 (GRCm39) missense probably damaging 1.00
R9557:Rhbdl3 UTSW 11 80,244,277 (GRCm39) missense probably benign 0.37
R9779:Rhbdl3 UTSW 11 80,214,317 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAACAGTCCAGAGGAAGCC -3'
(R):5'- CAGGTGAAATGGGTCTGCAG -3'

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