Incidental Mutation 'R5544:R3hdml'
ID 436139
Institutional Source Beutler Lab
Gene Symbol R3hdml
Ensembl Gene ENSMUSG00000078949
Gene Name R3H domain containing-like
Synonyms OTTMUSG00000001070
MMRRC Submission 043102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5544 (G1)
Quality Score 224
Status Not validated
Chromosome 2
Chromosomal Location 163334238-163344532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163340342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 170 (T170A)
Ref Sequence ENSEMBL: ENSMUSP00000105043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109416]
AlphaFold A2A5I3
Predicted Effect probably damaging
Transcript: ENSMUST00000109416
AA Change: T170A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105043
Gene: ENSMUSG00000078949
AA Change: T170A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SCP 61 215 2.52e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141329
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G A 9: 30,863,999 (GRCm39) A372T probably damaging Het
Ap4m1 A G 5: 138,176,632 (GRCm39) T411A probably benign Het
Arid3b T A 9: 57,705,380 (GRCm39) K274* probably null Het
Bcan A G 3: 87,900,360 (GRCm39) probably null Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
C9 T A 15: 6,526,508 (GRCm39) V514D probably damaging Het
Cdk2 A C 10: 128,535,008 (GRCm39) D336E probably benign Het
Corin A T 5: 72,462,357 (GRCm39) Y825* probably null Het
Cyp17a1 A G 19: 46,661,093 (GRCm39) Y64H probably damaging Het
Dock4 T G 12: 40,884,701 (GRCm39) I1735S possibly damaging Het
Dock7 T C 4: 98,855,494 (GRCm39) H1486R probably damaging Het
Fam171b C A 2: 83,685,871 (GRCm39) A185D possibly damaging Het
Fbxl13 A G 5: 21,729,489 (GRCm39) I441T probably damaging Het
Gm7347 T A 5: 26,260,016 (GRCm39) D178V possibly damaging Het
Greb1 C A 12: 16,723,797 (GRCm39) C1884F probably damaging Het
Kdr G A 5: 76,121,403 (GRCm39) R536* probably null Het
Lamc2 T C 1: 152,999,799 (GRCm39) T1187A possibly damaging Het
Mal T A 2: 127,476,937 (GRCm39) H142L probably damaging Het
Map4k2 A C 19: 6,395,944 (GRCm39) probably null Het
Morn4 T C 19: 42,064,686 (GRCm39) T101A possibly damaging Het
Neto2 A G 8: 86,374,506 (GRCm39) V241A possibly damaging Het
Nprl2 T C 9: 107,421,808 (GRCm39) V232A probably benign Het
Pcdhb13 T C 18: 37,576,573 (GRCm39) V317A possibly damaging Het
Pcdhb17 T A 18: 37,620,474 (GRCm39) C755S possibly damaging Het
Pgc A G 17: 48,043,429 (GRCm39) D259G probably benign Het
Ptprh C A 7: 4,583,909 (GRCm39) E228* probably null Het
Retreg2 T G 1: 75,121,333 (GRCm39) *174G probably null Het
Rps6ka1 A G 4: 133,599,326 (GRCm39) S34P probably benign Het
Rptn A G 3: 93,305,780 (GRCm39) T1038A possibly damaging Het
Sel1l3 A T 5: 53,357,644 (GRCm39) V116D probably damaging Het
Sidt2 A T 9: 45,855,753 (GRCm39) Y509N probably damaging Het
Slc16a11 T A 11: 70,105,826 (GRCm39) probably null Het
Thsd7a G T 6: 12,379,470 (GRCm39) Q985K possibly damaging Het
Ttn T C 2: 76,556,882 (GRCm39) N30041S probably benign Het
Vmn1r231 A G 17: 21,110,840 (GRCm39) I25T probably damaging Het
Wdr81 T C 11: 75,332,623 (GRCm39) D1926G probably damaging Het
Other mutations in R3hdml
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1308:R3hdml UTSW 2 163,344,319 (GRCm39) missense probably damaging 1.00
R1952:R3hdml UTSW 2 163,340,216 (GRCm39) missense probably benign 0.03
R6431:R3hdml UTSW 2 163,344,324 (GRCm39) missense probably damaging 0.99
R7317:R3hdml UTSW 2 163,344,367 (GRCm39) nonsense probably null
R7605:R3hdml UTSW 2 163,337,688 (GRCm39) missense probably damaging 1.00
R8303:R3hdml UTSW 2 163,341,832 (GRCm39) missense probably damaging 1.00
R9255:R3hdml UTSW 2 163,337,612 (GRCm39) missense probably damaging 0.98
R9294:R3hdml UTSW 2 163,344,252 (GRCm39) missense probably benign 0.10
R9307:R3hdml UTSW 2 163,344,372 (GRCm39) makesense probably null
R9364:R3hdml UTSW 2 163,334,535 (GRCm39) missense probably benign
R9422:R3hdml UTSW 2 163,334,526 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTGACAGAGTGACTTTTCCATC -3'
(R):5'- TGCACAACTTCCCAGGAATG -3'

Sequencing Primer
(F):5'- GACAGAGTGACTTTTCCATCCTCCC -3'
(R):5'- TGTGGTCCCAGTACTCAGGAG -3'
Posted On 2016-10-24