Incidental Mutation 'R8413:Henmt1'
ID 652777
Institutional Source Beutler Lab
Gene Symbol Henmt1
Ensembl Gene ENSMUSG00000045662
Gene Name HEN1 methyltransferase homolog 1 (Arabidopsis)
Synonyms Hen1, 4921515J06Rik
MMRRC Submission 067767-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # R8413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108847375-108868090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108864965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 146 (F146I)
Ref Sequence ENSEMBL: ENSMUSP00000054829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059946] [ENSMUST00000098680] [ENSMUST00000106586] [ENSMUST00000196400] [ENSMUST00000196533]
AlphaFold Q8CAE2
Predicted Effect probably damaging
Transcript: ENSMUST00000059946
AA Change: F146I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054829
Gene: ENSMUSG00000045662
AA Change: F146I

DomainStartEndE-ValueType
Pfam:Methyltransf_23 32 207 4.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098680
AA Change: F146I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096277
Gene: ENSMUSG00000045662
AA Change: F146I

DomainStartEndE-ValueType
Pfam:Methyltransf_23 32 206 6.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106586
AA Change: F146I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102196
Gene: ENSMUSG00000045662
AA Change: F146I

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 damaging
Transcript: ENSMUST00000196533
AA Change: F103I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143574
Gene: ENSMUSG00000045662
AA Change: F103I

DomainStartEndE-ValueType
PDB:3JWG|A 8 192 2e-34 PDB
SCOP:d1fp2a2 9 154 5e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,023,123 (GRCm39) D86E probably benign Het
Adamts5 A G 16: 85,663,506 (GRCm39) probably null Het
Arhgap31 T C 16: 38,423,283 (GRCm39) R928G possibly damaging Het
Birc6 T C 17: 74,853,388 (GRCm39) V164A possibly damaging Het
Cdh26 T A 2: 178,110,022 (GRCm39) H438Q probably damaging Het
Cfap65 T A 1: 74,956,328 (GRCm39) K1084* probably null Het
Csmd1 T C 8: 15,950,676 (GRCm39) H3511R probably damaging Het
Ebf1 T A 11: 44,534,274 (GRCm39) S178T possibly damaging Het
Efcab3 A C 11: 104,811,135 (GRCm39) K3192N unknown Het
Eln A G 5: 134,755,375 (GRCm39) V226A unknown Het
Fat4 A T 3: 39,063,128 (GRCm39) probably null Het
Gcn1 C T 5: 115,717,698 (GRCm39) T222I probably benign Het
Gm5624 T G 14: 44,799,347 (GRCm39) N70T Het
Gpc6 T A 14: 118,129,761 (GRCm39) V387E possibly damaging Het
Gyg1 C T 3: 20,179,619 (GRCm39) V255M probably damaging Het
Itpr3 T A 17: 27,330,900 (GRCm39) L1736Q probably damaging Het
Kcnh4 A G 11: 100,640,619 (GRCm39) V469A possibly damaging Het
Mybpc2 A G 7: 44,157,729 (GRCm39) L750P probably damaging Het
Naalad2 A G 9: 18,241,939 (GRCm39) V655A probably damaging Het
Nme8 C T 13: 19,858,689 (GRCm39) D289N probably benign Het
Or12k5 T G 2: 36,895,402 (GRCm39) T75P probably damaging Het
Or2t6 A G 14: 14,175,416 (GRCm38) V222A probably benign Het
Or4c104 T A 2: 88,587,024 (GRCm39) probably benign Het
Or4k15 C G 14: 50,364,827 (GRCm39) S264R probably benign Het
Or5aq6 T C 2: 86,923,502 (GRCm39) K80E probably benign Het
Or8g30 T A 9: 39,230,401 (GRCm39) K170* probably null Het
Phf24 T A 4: 42,937,906 (GRCm39) C173* probably null Het
Plcb2 A G 2: 118,549,304 (GRCm39) F353L probably damaging Het
Prss33 C A 17: 24,052,930 (GRCm39) W248L probably damaging Het
Rgs3 T G 4: 62,544,254 (GRCm39) L350R possibly damaging Het
Samd11 C T 4: 156,333,730 (GRCm39) G200D probably damaging Het
Sh3tc2 T A 18: 62,123,873 (GRCm39) V878E probably damaging Het
Sh3tc2 G C 18: 62,148,142 (GRCm39) G1284A probably benign Het
Skint5 A G 4: 113,572,900 (GRCm39) S780P unknown Het
Slc8a3 T C 12: 81,361,452 (GRCm39) K456E probably damaging Het
Smok2a T A 17: 13,444,499 (GRCm39) H25Q probably benign Het
Srrt A G 5: 137,298,589 (GRCm39) L225P possibly damaging Het
Stox1 C T 10: 62,500,754 (GRCm39) R602Q probably damaging Het
Tmem30a A T 9: 79,683,507 (GRCm39) C157S probably damaging Het
Tnks1bp1 T C 2: 84,892,622 (GRCm39) S850P probably damaging Het
Trpm6 A G 19: 18,809,849 (GRCm39) I1082V probably benign Het
Ttll5 T A 12: 85,965,895 (GRCm39) N646K probably benign Het
Vmn1r179 A T 7: 23,628,277 (GRCm39) Y156F probably benign Het
Vmn1r54 T A 6: 90,246,413 (GRCm39) L109H probably damaging Het
Wdr17 T C 8: 55,115,953 (GRCm39) I617V probably benign Het
Zeb2 T A 2: 44,886,183 (GRCm39) Q958L probably damaging 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
R5270:Henmt1 UTSW 3 108,867,530 (GRCm39) missense probably benign 0.03
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
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'- CATGGGTTCAGGACTGTTGC -3'
(R):5'- ACAGCTTAGGTAAGACAGACATATC -3'

Sequencing Primer
(F):5'- GGACTGTTGCATTATCAAAGGACTG -3'
(R):5'- ATTTCCTATAACAGGGTTCCAACC -3'
Posted On 2020-10-20