Incidental Mutation 'R5687:Rhbdd3'
ID 443439
Institutional Source Beutler Lab
Gene Symbol Rhbdd3
Ensembl Gene ENSMUSG00000034175
Gene Name rhomboid domain containing 3
Synonyms 5730411O18Rik
MMRRC Submission 043320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5687 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 5048926-5056093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5055707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 324 (S324T)
Ref Sequence ENSEMBL: ENSMUSP00000105504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036320] [ENSMUST00000062821] [ENSMUST00000101610] [ENSMUST00000109878] [ENSMUST00000148761] [ENSMUST00000150632] [ENSMUST00000163299] [ENSMUST00000134267] [ENSMUST00000139742]
AlphaFold Q8BP97
Predicted Effect probably benign
Transcript: ENSMUST00000036320
AA Change: S314T

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175
AA Change: S314T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Rhomboid 44 185 2.2e-7 PFAM
SCOP:d1ifya_ 308 351 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062821
SMART Domains Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 34 101 8.7e-18 PFAM
low complexity region 200 211 N/A INTRINSIC
low complexity region 220 267 N/A INTRINSIC
Pfam:Collagen 282 342 5e-10 PFAM
Pfam:Collagen 312 377 4.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101610
AA Change: S324T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
AA Change: S324T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Rhomboid 44 187 2.5e-7 PFAM
Pfam:UBA 323 358 3.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109878
AA Change: S324T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
AA Change: S324T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Rhomboid 44 187 2e-7 PFAM
SCOP:d1ifya_ 318 361 2e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132196
Predicted Effect probably benign
Transcript: ENSMUST00000148761
SMART Domains Protein: ENSMUSP00000120264
Gene: ENSMUSG00000034175

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Rhomboid 44 187 3.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150632
Predicted Effect probably benign
Transcript: ENSMUST00000153308
SMART Domains Protein: ENSMUSP00000125605
Gene: ENSMUSG00000034164

DomainStartEndE-ValueType
Pfam:Collagen 1 49 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163299
SMART Domains Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 33 101 7.3e-24 PFAM
low complexity region 198 209 N/A INTRINSIC
low complexity region 218 265 N/A INTRINSIC
Pfam:Collagen 280 340 5.1e-10 PFAM
Pfam:Collagen 310 375 4.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132328
SMART Domains Protein: ENSMUSP00000117779
Gene: ENSMUSG00000034164

DomainStartEndE-ValueType
low complexity region 1 44 N/A INTRINSIC
Pfam:Collagen 59 113 4.5e-10 PFAM
Pfam:Collagen 89 152 2e-13 PFAM
low complexity region 154 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151906
SMART Domains Protein: ENSMUSP00000124014
Gene: ENSMUSG00000034164

DomainStartEndE-ValueType
Pfam:Collagen 2 68 8.4e-14 PFAM
low complexity region 72 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134267
Predicted Effect probably benign
Transcript: ENSMUST00000139742
Meta Mutation Damage Score 0.4835 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered stimulated NK cell activation and acute inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,223,852 (GRCm39) D1292V probably benign Het
Adcy2 A T 13: 68,768,938 (GRCm39) C1063* probably null Het
Adcy2 A T 13: 68,790,688 (GRCm39) V892D probably damaging Het
Agtpbp1 T C 13: 59,648,329 (GRCm39) D497G probably benign Het
Anks1b A C 10: 90,750,573 (GRCm39) I195L probably benign Het
Asmt G T X: 169,111,749 (GRCm39) S377I unknown Het
C1s1 T A 6: 124,517,909 (GRCm39) T24S probably benign Het
Ccdc85a A T 11: 28,342,854 (GRCm39) probably benign Het
Ccndbp1 T C 2: 120,845,183 (GRCm39) probably benign Het
Cct8 T C 16: 87,285,709 (GRCm39) I250V probably benign Het
Cmya5 T C 13: 93,234,684 (GRCm39) T135A possibly damaging Het
Col11a1 T C 3: 114,010,752 (GRCm39) probably benign Het
Crybg3 A G 16: 59,379,529 (GRCm39) M575T probably benign Het
Dmp1 C T 5: 104,354,952 (GRCm39) probably benign Het
Emc1 G T 4: 139,102,691 (GRCm39) R950L probably damaging Het
Enpep T C 3: 129,092,743 (GRCm39) probably null Het
Eya1 G A 1: 14,253,476 (GRCm39) T500I probably damaging Het
Fam169a T C 13: 97,230,126 (GRCm39) F54L probably damaging Het
Fbxo8 A G 8: 57,044,552 (GRCm39) K285R probably damaging Het
Galnt1 A T 18: 24,405,807 (GRCm39) E416D probably benign Het
Gcc1 T A 6: 28,419,232 (GRCm39) probably null Het
Gm10800 T A 2: 98,496,965 (GRCm39) Y196F probably benign Het
Gmpr T A 13: 45,692,496 (GRCm39) probably null Het
Jrkl C T 9: 13,244,387 (GRCm39) E425K probably benign Het
Kl T G 5: 150,911,931 (GRCm39) I560S possibly damaging Het
Kyat3 C A 3: 142,440,343 (GRCm39) R356S probably null Het
Lrig2 C T 3: 104,371,388 (GRCm39) probably null Het
Lrrc47 A G 4: 154,100,140 (GRCm39) T239A probably benign Het
Map4k2 T C 19: 6,395,672 (GRCm39) probably benign Het
Mon2 A G 10: 122,844,144 (GRCm39) S1469P probably damaging Het
Mthfd1l G A 10: 3,940,002 (GRCm39) probably null Het
Mvk G T 5: 114,588,826 (GRCm39) G144V probably damaging Het
Nasp T A 4: 116,463,002 (GRCm39) probably benign Het
Ndst4 A C 3: 125,232,258 (GRCm39) N276H possibly damaging Het
Nsmf C T 2: 24,946,079 (GRCm39) P189S probably damaging Het
Nt5m T G 11: 59,743,649 (GRCm39) D92E probably benign Het
Or10g6 T G 9: 39,933,731 (GRCm39) L14R probably damaging Het
Or4k39 T C 2: 111,239,033 (GRCm39) noncoding transcript Het
Or4p23 A T 2: 88,577,094 (GRCm39) I46N probably damaging Het
Pan3 T A 5: 147,391,982 (GRCm39) I119N probably damaging Het
Pard6b A T 2: 167,940,546 (GRCm39) S178C probably damaging Het
Parl A G 16: 20,106,728 (GRCm39) probably benign Het
Pdk2 A G 11: 94,919,851 (GRCm39) probably benign Het
Prag1 A G 8: 36,613,967 (GRCm39) E1173G probably benign Het
Prph2 T A 17: 47,234,391 (GRCm39) L320Q probably damaging Het
Psmd3 T C 11: 98,584,495 (GRCm39) I200T probably damaging Het
Rps6-ps2 A T 8: 89,533,112 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Samd4 A G 14: 47,254,022 (GRCm39) N61S probably benign Het
Sfrp2 G A 3: 83,674,146 (GRCm39) A100T probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc6a13 A G 6: 121,279,700 (GRCm39) T25A probably benign Het
Sntg1 C A 1: 8,533,667 (GRCm39) R329L possibly damaging Het
Sorbs2 T C 8: 46,228,669 (GRCm39) F285L probably damaging Het
Speg T C 1: 75,395,773 (GRCm39) probably null Het
Srgap1 T C 10: 121,661,541 (GRCm39) Y533C probably damaging Het
Supt5 C A 7: 28,017,188 (GRCm39) S668I probably benign Het
Taf6l T G 19: 8,750,676 (GRCm39) I133L probably benign Het
Thrap3 G A 4: 126,074,279 (GRCm39) probably benign Het
Tmem115 A G 9: 107,412,054 (GRCm39) N126S probably benign Het
Trgc1 A T 13: 19,400,729 (GRCm39) I153F unknown Het
Tspoap1 T A 11: 87,667,952 (GRCm39) I1192N probably damaging Het
Vcan T C 13: 89,826,253 (GRCm39) I3184V probably damaging Het
Yeats4 G A 10: 117,051,585 (GRCm39) T224M probably benign Het
Zc3h13 A T 14: 75,569,400 (GRCm39) R1416* probably null Het
Zmynd12 T A 4: 119,299,098 (GRCm39) Y193N probably damaging Het
Other mutations in Rhbdd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Rhbdd3 APN 11 5,055,424 (GRCm39) unclassified probably benign
IGL02376:Rhbdd3 APN 11 5,053,192 (GRCm39) unclassified probably benign
R1387:Rhbdd3 UTSW 11 5,054,121 (GRCm39) missense probably damaging 1.00
R1438:Rhbdd3 UTSW 11 5,053,332 (GRCm39) missense probably damaging 1.00
R4196:Rhbdd3 UTSW 11 5,049,460 (GRCm39) unclassified probably benign
R4278:Rhbdd3 UTSW 11 5,055,329 (GRCm39) missense probably benign 0.01
R4554:Rhbdd3 UTSW 11 5,055,946 (GRCm39) missense probably benign 0.03
R4809:Rhbdd3 UTSW 11 5,055,949 (GRCm39) missense probably damaging 0.99
R5594:Rhbdd3 UTSW 11 5,055,710 (GRCm39) missense probably damaging 1.00
R7863:Rhbdd3 UTSW 11 5,053,236 (GRCm39) missense probably benign 0.23
R7876:Rhbdd3 UTSW 11 5,055,832 (GRCm39) missense possibly damaging 0.91
R8138:Rhbdd3 UTSW 11 5,054,303 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCTGACATGGAAGAACTCGG -3'
(R):5'- AACATGTTGGGGCCTAGTCC -3'

Sequencing Primer
(F):5'- TCGGAGAGGGGCTTGGAC -3'
(R):5'- ACTAGGGCCTCAGTGTCCACTAG -3'
Posted On 2016-11-09