Incidental Mutation 'R1308:R3hdml'
ID 157848
Institutional Source Beutler Lab
Gene Symbol R3hdml
Ensembl Gene ENSMUSG00000078949
Gene Name R3H domain containing-like
Synonyms OTTMUSG00000001070
MMRRC Submission 039374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 163334238-163344532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 163344319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 236 (C236F)
Ref Sequence ENSEMBL: ENSMUSP00000105043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109416] [ENSMUST00000143911]
AlphaFold A2A5I3
Predicted Effect probably damaging
Transcript: ENSMUST00000109416
AA Change: C236F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105043
Gene: ENSMUSG00000078949
AA Change: C236F

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
Predicted Effect probably benign
Transcript: ENSMUST00000143911
SMART Domains Protein: ENSMUSP00000119479
Gene: ENSMUSG00000017950

DomainStartEndE-ValueType
ZnF_C4 35 100 6.18e-27 SMART
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Jph1 A G 1: 17,161,918 (GRCm39) I248T probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
Prss47 T C 13: 65,199,630 (GRCm39) H83R probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tekt2 A T 4: 126,218,711 (GRCm39) L14H probably damaging Het
Tnpo2 T C 8: 85,781,982 (GRCm39) F857S probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A probably damaging Het
Other mutations in R3hdml
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1952:R3hdml UTSW 2 163,340,216 (GRCm39) missense probably benign 0.03
R5544:R3hdml UTSW 2 163,340,342 (GRCm39) missense probably damaging 1.00
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'- TGTGAAGGCTGTTTGCCCTAAACTC -3'
(R):5'- AGTCACAAACCAAGCTTCCTGTTCC -3'

Sequencing Primer
(F):5'- GCTGTTTGCCCTAAACTCTTCTG -3'
(R):5'- gaggcagaggcaggcag -3'
Posted On 2014-02-18