Incidental Mutation 'R4809:Rhbdd3'
ID370920
Institutional Source Beutler Lab
Gene Symbol Rhbdd3
Ensembl Gene ENSMUSG00000034175
Gene Namerhomboid domain containing 3
Synonyms
MMRRC Submission 042428-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #R4809 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location5098926-5106093 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5105949 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 377 (A377D)
Ref Sequence ENSEMBL: ENSMUSP00000105504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036320] [ENSMUST00000062821] [ENSMUST00000101610] [ENSMUST00000109878] [ENSMUST00000134267] [ENSMUST00000139742] [ENSMUST00000148761] [ENSMUST00000150632] [ENSMUST00000163299]
Predicted Effect probably damaging
Transcript: ENSMUST00000036320
AA Change: A367D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175
AA Change: A367D

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: A377D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
AA Change: A377D

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: A377D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
AA Change: A377D

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: 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: ENSMUST00000134267
Predicted Effect probably benign
Transcript: ENSMUST00000139742
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: 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: 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
Meta Mutation Damage Score 0.0795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (96/100)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,662,631 V459A probably benign Het
Abca12 C T 1: 71,278,856 A1840T probably benign Het
Abhd6 T G 14: 8,039,771 M1R probably null Het
Abl1 T C 2: 31,800,242 L572P probably damaging Het
Adamts2 C A 11: 50,803,690 S1101R probably benign Het
Adgra2 G A 8: 27,110,479 W200* probably null Het
AI661453 C A 17: 47,467,187 probably benign Het
Aldh1l2 A G 10: 83,506,632 F438S probably damaging Het
Ankrd49 G A 9: 14,781,214 T218I possibly damaging Het
Ano7 T C 1: 93,394,566 F410L probably benign Het
Aox4 T A 1: 58,266,649 F1271I probably damaging Het
Aqr T C 2: 114,175,214 probably benign Het
Arhgap42 A G 9: 9,180,117 S54P probably damaging Het
Aunip C A 4: 134,511,139 D16E possibly damaging Het
Btbd7 A G 12: 102,793,744 probably null Het
Cabp4 T C 19: 4,139,291 H89R probably benign Het
Ccni AAA AAACTAA 5: 93,187,570 probably benign Het
Chfr C T 5: 110,158,834 H410Y probably damaging Het
Churc1 C A 12: 76,782,897 L111M probably damaging Het
Clasp1 C T 1: 118,461,250 T113I probably benign Het
Col12a1 T A 9: 79,693,567 Q745L probably benign Het
Col20a1 T C 2: 180,998,661 L537P probably damaging Het
Creb5 A T 6: 53,610,426 E47V probably null Het
Csnk1d A T 11: 120,963,842 probably benign Het
Cts6 A T 13: 61,202,181 W29R probably damaging Het
Dbt T A 3: 116,546,343 I420N probably damaging Het
Det1 C A 7: 78,843,807 D150Y probably damaging Het
Dlk2 A G 17: 46,299,014 probably null Het
Dnmt3a A T 12: 3,900,352 I639F probably damaging Het
Dock9 A T 14: 121,546,596 Y1989N probably benign Het
Dsg4 A T 18: 20,466,621 T765S possibly damaging Het
Epha5 C T 5: 84,105,891 D548N possibly damaging Het
Fam189a1 G A 7: 64,776,740 T159I probably damaging Het
Fam227b T A 2: 126,116,125 Y240F possibly damaging Het
Fbxw21 C T 9: 109,143,390 V395I probably damaging Het
Fn1 C A 1: 71,652,800 probably benign Het
Fpr-rs3 A T 17: 20,624,421 S153T probably benign Het
Frem2 A G 3: 53,653,895 F1064L probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,430,958 probably benign Het
Gjd2 C T 2: 114,011,541 G152R probably damaging Het
Gpr75 T C 11: 30,892,154 I353T possibly damaging Het
Grb7 T C 11: 98,451,436 V145A possibly damaging Het
Igkv4-73 G A 6: 69,197,823 R40W unknown Het
Kif1c C T 11: 70,726,357 A839V probably benign Het
Krt31 G A 11: 100,049,922 A125V possibly damaging Het
Lamb1 A G 12: 31,278,526 Y163C probably damaging Het
Mars G T 10: 127,300,215 T535K probably damaging Het
Mdc1 T C 17: 35,849,101 probably null Het
Micu1 C T 10: 59,740,822 H167Y probably benign Het
Minos1 C G 4: 139,130,957 W10S probably damaging Het
Mrgprb1 C T 7: 48,447,991 V58I possibly damaging Het
Ncoa7 T A 10: 30,771,762 E6V possibly damaging Het
Nectin3 A C 16: 46,448,160 probably benign Het
Olfr1085 T A 2: 86,657,685 M258L possibly damaging Het
Olfr1294 C T 2: 111,537,611 C226Y probably benign Het
Olfr46 A G 7: 140,611,074 K295E probably damaging Het
Olfr598 T A 7: 103,328,523 Y12* probably null Het
Pex16 T C 2: 92,376,638 S54P probably damaging Het
Pik3cg A T 12: 32,204,081 S636T possibly damaging Het
Plin5 A G 17: 56,116,855 S27P probably benign Het
Ptch1 A T 13: 63,513,708 D1068E probably damaging Het
Ptprq T C 10: 107,563,175 T1960A probably damaging Het
Rap1gap2 T C 11: 74,407,974 probably benign Het
Rcc2 G A 4: 140,717,042 R348Q probably damaging Het
Rpl7 T G 1: 16,101,965 probably benign Het
Scn11a G T 9: 119,819,870 D42E probably benign Het
Scube3 C T 17: 28,165,173 R549W probably damaging Het
Sil1 A T 18: 35,325,375 M189K probably damaging Het
Slc39a6 G A 18: 24,585,474 Q225* probably null Het
Slc7a15 A T 12: 8,539,002 C182S probably benign Het
Spata21 G A 4: 141,097,120 probably null Het
Stim2 T C 5: 54,110,613 V417A probably damaging Het
Szt2 T C 4: 118,388,985 D993G probably damaging Het
Tet3 A G 6: 83,402,946 S747P probably benign Het
Tmem86a C G 7: 47,052,930 S34R possibly damaging Het
Top2b T A 14: 16,383,125 S38T probably benign Het
Trim33 A T 3: 103,329,256 T561S possibly damaging Het
Ttc39a C T 4: 109,416,021 Q25* probably null Het
Urb1 A G 16: 90,759,842 I1816T possibly damaging Het
Usp24 T C 4: 106,413,676 probably null Het
Usp36 A C 11: 118,263,070 L840R probably damaging Het
Usp50 C A 2: 126,777,853 probably benign Het
Vangl2 A G 1: 172,009,663 V193A possibly damaging Het
Vmn1r62 T A 7: 5,675,867 H182Q probably benign Het
Vmn2r124 A T 17: 18,073,745 Y698F probably benign Het
Wls C T 3: 159,897,445 T165I probably benign Het
Zfp808 G T 13: 62,171,292 E112* probably null Het
Other mutations in Rhbdd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Rhbdd3 APN 11 5105424 unclassified probably benign
IGL02376:Rhbdd3 APN 11 5103192 unclassified probably benign
R1387:Rhbdd3 UTSW 11 5104121 missense probably damaging 1.00
R1438:Rhbdd3 UTSW 11 5103332 missense probably damaging 1.00
R4196:Rhbdd3 UTSW 11 5099460 unclassified probably benign
R4278:Rhbdd3 UTSW 11 5105329 missense probably benign 0.01
R4554:Rhbdd3 UTSW 11 5105946 missense probably benign 0.03
R5594:Rhbdd3 UTSW 11 5105710 missense probably damaging 1.00
R5687:Rhbdd3 UTSW 11 5105707 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCTAAGGTAAGGCAGGGTGG -3'
(R):5'- GGAGCCAGACATGACAACTG -3'

Sequencing Primer
(F):5'- TATGGGAGCCATGCTGTCC -3'
(R):5'- CTGACACTCAGGAGACCAGGTTG -3'
Posted On2016-02-04