Incidental Mutation 'R5270:Henmt1'
ID 400169
Institutional Source Beutler Lab
Gene Symbol Henmt1
Ensembl Gene ENSMUSG00000045662
Gene Name HEN1 methyltransferase homolog 1 (Arabidopsis)
Synonyms Hen1, 4921515J06Rik
MMRRC Submission 042835-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R5270 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 108847375-108868090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108867530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 355 (R355H)
Ref Sequence ENSEMBL: ENSMUSP00000102196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059946] [ENSMUST00000098680] [ENSMUST00000106586] [ENSMUST00000196400] [ENSMUST00000196533]
AlphaFold Q8CAE2
Predicted Effect probably benign
Transcript: ENSMUST00000059946
AA Change: R355H

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054829
Gene: ENSMUSG00000045662
AA Change: R355H

DomainStartEndE-ValueType
Pfam:Methyltransf_23 32 207 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098680
SMART Domains Protein: ENSMUSP00000096277
Gene: ENSMUSG00000045662

DomainStartEndE-ValueType
Pfam:Methyltransf_23 32 206 6.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106586
AA Change: R355H

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102196
Gene: ENSMUSG00000045662
AA Change: R355H

DomainStartEndE-ValueType
Pfam:Methyltransf_23 32 206 1.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196400
SMART Domains Protein: ENSMUSP00000143561
Gene: ENSMUSG00000045662

DomainStartEndE-ValueType
PDB:3HTX|D 9 90 7e-7 PDB
SCOP:d1khha_ 9 90 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196533
AA Change: R312H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143574
Gene: ENSMUSG00000045662
AA Change: R312H

DomainStartEndE-ValueType
PDB:3JWG|A 8 192 2e-34 PDB
SCOP:d1fp2a2 9 154 5e-7 SMART
Meta Mutation Damage Score 0.0759 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout allele exhibit male infertility, pinhead sperm, decreased testis weight, ologospermia and asthenozoospermia. Female fertility is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,282,650 (GRCm39) V585A possibly damaging Het
Adam6a A T 12: 113,507,747 (GRCm39) H40L possibly damaging Het
Adamts20 G A 15: 94,180,400 (GRCm39) P1752S probably benign Het
Atp5if1 A G 4: 132,260,611 (GRCm39) F27L probably damaging Het
B230104I21Rik A G 4: 154,434,050 (GRCm39) probably benign Het
Ciz1 C A 2: 32,264,511 (GRCm39) probably null Het
Crb1 T A 1: 139,164,602 (GRCm39) Y1174F probably damaging Het
Csf2rb2 A T 15: 78,176,182 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,918,312 (GRCm39) M433K probably benign Het
Dock4 A G 12: 40,783,270 (GRCm39) I735V probably benign Het
Dpp6 C T 5: 27,839,532 (GRCm39) S349L probably damaging Het
Epg5 T A 18: 78,026,778 (GRCm39) N1256K possibly damaging Het
Epha4 A G 1: 77,483,244 (GRCm39) V255A probably damaging Het
Gabrb1 A T 5: 72,265,669 (GRCm39) D155V probably damaging Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Hcrt T C 11: 100,652,823 (GRCm39) T64A probably damaging Het
Hrh1 C A 6: 114,458,179 (GRCm39) R487S possibly damaging Het
Ints2 T C 11: 86,106,621 (GRCm39) S930G probably damaging Het
Irs2 G A 8: 11,056,678 (GRCm39) Q585* probably null Het
Kcns1 C A 2: 164,010,249 (GRCm39) R170L probably benign Het
Kdm3b T C 18: 34,960,467 (GRCm39) S1351P probably damaging Het
Ly9 T C 1: 171,428,730 (GRCm39) T297A probably damaging Het
M6pr G A 6: 122,292,048 (GRCm39) D127N possibly damaging Het
Macir T C 1: 97,573,720 (GRCm39) Q115R probably damaging Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Nit2 G A 16: 56,977,494 (GRCm39) P179S probably damaging Het
Per1 T C 11: 68,994,424 (GRCm39) M516T probably benign Het
Pkdrej A T 15: 85,702,528 (GRCm39) I1136N probably damaging Het
Pramel27 A G 4: 143,578,468 (GRCm39) M243V probably damaging Het
Prdm9 G T 17: 15,773,625 (GRCm39) T257K probably benign Het
Prkdc T C 16: 15,552,819 (GRCm39) L2085P probably damaging Het
Rasgrf1 A C 9: 89,908,747 (GRCm39) E1240D probably benign Het
Rrh T C 3: 129,606,998 (GRCm39) I142V probably benign Het
Saal1 G T 7: 46,351,157 (GRCm39) probably benign Het
Sdcbp2 A G 2: 151,426,812 (GRCm39) I70V probably benign Het
Skida1 C A 2: 18,052,460 (GRCm39) A231S probably benign Het
Smtnl2 T A 11: 72,290,743 (GRCm39) T401S probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spag4 G T 2: 155,907,853 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,283 (GRCm39) M179V probably benign Het
Tm9sf1 G T 14: 55,873,938 (GRCm39) T520N probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Vmn1r47 A T 6: 89,999,525 (GRCm39) Q219L probably damaging Het
Vmn2r104 A T 17: 20,258,528 (GRCm39) C539S probably damaging Het
Wdr17 G T 8: 55,096,221 (GRCm39) S1024R probably benign Het
Zc3h4 A G 7: 16,168,440 (GRCm39) T850A unknown Het
Zfa-ps A G 10: 52,419,552 (GRCm39) noncoding transcript Het
Zfp146 G T 7: 29,861,900 (GRCm39) N47K probably benign Het
Zfp353-ps G T 8: 42,534,572 (GRCm39) noncoding transcript Het
Zfp607a A T 7: 27,577,730 (GRCm39) K267* probably null Het
Other mutations in Henmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Henmt1 APN 3 108,850,095 (GRCm39) missense probably damaging 1.00
R0049:Henmt1 UTSW 3 108,861,105 (GRCm39) splice site probably benign
R0143:Henmt1 UTSW 3 108,861,118 (GRCm39) missense probably damaging 0.98
R0391:Henmt1 UTSW 3 108,865,851 (GRCm39) splice site probably benign
R4035:Henmt1 UTSW 3 108,866,001 (GRCm39) missense probably damaging 1.00
R4580:Henmt1 UTSW 3 108,850,081 (GRCm39) missense probably benign 0.00
R5162:Henmt1 UTSW 3 108,847,366 (GRCm39) splice site probably null
R5550:Henmt1 UTSW 3 108,861,184 (GRCm39) missense probably damaging 1.00
R7629:Henmt1 UTSW 3 108,865,913 (GRCm39) missense probably benign 0.00
R8341:Henmt1 UTSW 3 108,865,908 (GRCm39) missense probably damaging 1.00
R8413:Henmt1 UTSW 3 108,864,965 (GRCm39) missense probably damaging 1.00
R8807:Henmt1 UTSW 3 108,867,652 (GRCm39) makesense probably null
R9512:Henmt1 UTSW 3 108,867,445 (GRCm39) missense probably benign 0.14
X0063:Henmt1 UTSW 3 108,867,636 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTGATACAAGTGGACCGACTG -3'
(R):5'- CCAACTATCAGTGGGTCTCTG -3'

Sequencing Primer
(F):5'- ACCGACTGAGGCTGAGATACC -3'
(R):5'- GGGTCTCTGAGCTTCAAGAAATCC -3'
Posted On 2016-07-06