Incidental Mutation 'R0801:R3hdm4'
ID 76289
Institutional Source Beutler Lab
Gene Symbol R3hdm4
Ensembl Gene ENSMUSG00000035781
Gene Name R3H domain containing 4
Synonyms C030046I01Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R0801 (G1)
Quality Score 166
Status Validated
Chromosome 10
Chromosomal Location 79745886-79752764 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 79749191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045529] [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000171416] [ENSMUST00000218970] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000181321] [ENSMUST00000170409] [ENSMUST00000219867]
AlphaFold Q4VBF2
Predicted Effect probably benign
Transcript: ENSMUST00000045529
SMART Domains Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 53 338 1.7e-6 PFAM
Pfam:7tm_1 59 323 7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045628
SMART Domains Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Pfam:R3H-assoc 43 177 1.2e-35 PFAM
Pfam:R3H 181 244 7.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105378
SMART Domains Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
WD40 94 133 1.05e-7 SMART
Blast:WD40 143 169 4e-8 BLAST
low complexity region 206 217 N/A INTRINSIC
WD40 226 267 1.53e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163125
Predicted Effect probably benign
Transcript: ENSMUST00000164705
SMART Domains Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 10 49 1.05e-7 SMART
Pfam:Med16 59 172 6.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165684
SMART Domains Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
WD40 95 134 1.05e-7 SMART
Blast:WD40 144 170 4e-8 BLAST
low complexity region 207 218 N/A INTRINSIC
WD40 227 268 1.53e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171416
SMART Domains Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Pfam:R3H-assoc 43 177 4.9e-39 PFAM
Pfam:R3H 183 243 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178620
Predicted Effect probably benign
Transcript: ENSMUST00000218970
Predicted Effect probably benign
Transcript: ENSMUST00000217976
Predicted Effect probably benign
Transcript: ENSMUST00000218750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219883
Predicted Effect probably benign
Transcript: ENSMUST00000181321
Predicted Effect probably benign
Transcript: ENSMUST00000170409
SMART Domains Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 10 49 1.05e-7 SMART
Pfam:Med16 59 105 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219867
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in R3hdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:R3hdm4 APN 10 79,747,925 (GRCm39) missense probably damaging 1.00
PIT4472001:R3hdm4 UTSW 10 79,749,389 (GRCm39) critical splice donor site probably null
R1167:R3hdm4 UTSW 10 79,747,907 (GRCm39) critical splice donor site probably null
R3622:R3hdm4 UTSW 10 79,748,515 (GRCm39) missense possibly damaging 0.96
R5264:R3hdm4 UTSW 10 79,749,175 (GRCm39) missense probably benign 0.19
R5268:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5269:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5357:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5358:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5360:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5362:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5363:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5434:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5435:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5442:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5534:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5921:R3hdm4 UTSW 10 79,749,453 (GRCm39) missense probably damaging 1.00
R6041:R3hdm4 UTSW 10 79,749,495 (GRCm39) missense possibly damaging 0.46
R7391:R3hdm4 UTSW 10 79,746,943 (GRCm39) missense probably benign 0.00
R7496:R3hdm4 UTSW 10 79,752,708 (GRCm39) missense probably damaging 0.99
R7913:R3hdm4 UTSW 10 79,747,779 (GRCm39) missense probably damaging 1.00
R7983:R3hdm4 UTSW 10 79,748,557 (GRCm39) missense probably damaging 1.00
R9329:R3hdm4 UTSW 10 79,749,393 (GRCm39) missense probably damaging 1.00
R9706:R3hdm4 UTSW 10 79,752,655 (GRCm39) critical splice donor site probably null
X0022:R3hdm4 UTSW 10 79,749,486 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAACACGAAGTGCAGATGAGCCC -3'
(R):5'- CTTGCTGTGAAACACCCCGTACTG -3'

Sequencing Primer
(F):5'- CCCAGGATCTGGCAGCATATAG -3'
(R):5'- TAGGAGTTCAGCAATGCAGG -3'
Posted On 2013-10-16