Incidental Mutation 'IGL01548:Henmt1'
ID 93216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Henmt1
Ensembl Gene ENSMUSG00000045662
Gene Name HEN1 methyltransferase homolog 1 (Arabidopsis)
Synonyms Hen1, 4921515J06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.445) question?
Stock # IGL01548
Quality Score
Chromosome 3
Chromosomal Location 108939873-108960774 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108942779 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 26 (I26T)
Ref Sequence ENSEMBL: ENSMUSP00000096277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050914] [ENSMUST00000059946] [ENSMUST00000098680] [ENSMUST00000106586] [ENSMUST00000196400] [ENSMUST00000196533] [ENSMUST00000197427]
AlphaFold Q8CAE2
Predicted Effect probably benign
Transcript: ENSMUST00000050914
SMART Domains Protein: ENSMUSP00000052414
Gene: ENSMUSG00000051638

signal peptide 1 23 N/A INTRINSIC
low complexity region 109 127 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000059946
AA Change: I26T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054829
Gene: ENSMUSG00000045662
AA Change: I26T

Pfam:Methyltransf_23 32 207 4.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098680
AA Change: I26T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096277
Gene: ENSMUSG00000045662
AA Change: I26T

Pfam:Methyltransf_23 32 206 6.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106586
AA Change: I26T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102196
Gene: ENSMUSG00000045662
AA Change: I26T

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

PDB:3HTX|D 9 90 7e-7 PDB
SCOP:d1khha_ 9 90 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196533
SMART Domains Protein: ENSMUSP00000143574
Gene: ENSMUSG00000045662

PDB:3JWG|A 8 192 2e-34 PDB
SCOP:d1fp2a2 9 154 5e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197884
Coding Region Coverage
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,057,089 (GRCm38) T224I probably benign Het
Adamts18 C T 8: 113,764,299 (GRCm38) G512E probably damaging Het
Atp4b A G 8: 13,389,679 (GRCm38) I181T probably damaging Het
Bcl11a A G 11: 24,163,346 (GRCm38) I230V probably benign Het
Cenpj C A 14: 56,532,319 (GRCm38) V1138L probably benign Het
Cep78 A G 19: 15,981,200 (GRCm38) probably benign Het
Clec2j T A 6: 128,655,978 (GRCm38) noncoding transcript Het
Col5a3 T C 9: 20,803,000 (GRCm38) probably benign Het
Cpne6 A T 14: 55,512,726 (GRCm38) T105S probably damaging Het
Csmd1 A T 8: 16,288,646 (GRCm38) Y482* probably null Het
Ctrl C A 8: 105,933,258 (GRCm38) probably benign Het
Dhcr24 T A 4: 106,573,871 (GRCm38) C252* probably null Het
Dnaaf9 T C 2: 130,814,259 (GRCm38) N110D probably damaging Het
Dnah17 G A 11: 118,098,612 (GRCm38) P1261S probably benign Het
Dnai2 T C 11: 114,752,942 (GRCm38) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm38) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 (GRCm38) S191A probably damaging Het
Fat4 T C 3: 38,887,758 (GRCm38) S267P probably damaging Het
Fat4 G A 3: 39,009,257 (GRCm38) C4454Y probably damaging Het
Frrs1 T C 3: 116,885,185 (GRCm38) C219R probably damaging Het
Gabra6 T A 11: 42,317,023 (GRCm38) Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 (GRCm38) C242* probably null Het
Gm2840 G A 5: 96,174,277 (GRCm38) noncoding transcript Het
Gmcl1p1 G A X: 3,078,226 (GRCm38) G423S probably benign Het
Golim4 C T 3: 75,908,125 (GRCm38) probably null Het
Gucy1b1 G T 3: 82,034,862 (GRCm38) T530K probably damaging Het
Hacl1 A T 14: 31,640,596 (GRCm38) D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 (GRCm38) T4276A possibly damaging Het
Hspa1l G A 17: 34,978,391 (GRCm38) A469T probably damaging Het
Htra3 T A 5: 35,664,076 (GRCm38) probably null Het
Lrrc28 C A 7: 67,628,294 (GRCm38) probably null Het
Mfhas1 T C 8: 35,590,459 (GRCm38) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm38) K808E possibly damaging Het
Mtnr1b A G 9: 15,863,200 (GRCm38) Y188H probably damaging Het
Myom1 A G 17: 71,101,220 (GRCm38) probably benign Het
Naca A T 10: 128,040,904 (GRCm38) probably benign Het
Nckap1l T A 15: 103,462,720 (GRCm38) V213D probably benign Het
Ndufa6 C T 15: 82,354,081 (GRCm38) V50M possibly damaging Het
Or4c35 T A 2: 89,978,539 (GRCm38) F254I possibly damaging Het
Or5b111 A G 19: 13,313,986 (GRCm38) F100L possibly damaging Het
Or5g23 A G 2: 85,608,761 (GRCm38) W50R probably benign Het
Or8b56 A G 9: 38,828,350 (GRCm38) T220A probably benign Het
Or8k53 T A 2: 86,347,733 (GRCm38) Y11F possibly damaging Het
Osbpl1a T C 18: 12,763,575 (GRCm38) Y311C probably damaging Het
Parp11 A C 6: 127,491,599 (GRCm38) Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 (GRCm38) probably null Het
Plec T C 15: 76,189,258 (GRCm38) R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 (GRCm38) Y375N probably benign Het
Prss35 C A 9: 86,755,274 (GRCm38) S32R probably benign Het
Prss57 C T 10: 79,785,747 (GRCm38) probably benign Het
Ptprc A C 1: 138,099,481 (GRCm38) probably null Het
Rims1 A G 1: 22,538,602 (GRCm38) C188R probably damaging Het
Ripk4 G T 16: 97,751,496 (GRCm38) Y144* probably null Het
Rpgrip1 A T 14: 52,126,271 (GRCm38) probably benign Het
Rps6ka4 A G 19: 6,832,323 (GRCm38) V378A probably benign Het
Rtf1 A G 2: 119,712,108 (GRCm38) K298E probably benign Het
Sdk1 T C 5: 142,085,765 (GRCm38) F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 (GRCm38) K543E probably benign Het
Slco1a8 A G 6: 141,992,512 (GRCm38) I227T possibly damaging Het
Sorcs3 A T 19: 48,794,168 (GRCm38) I1041F possibly damaging Het
Spata31e4 A G 13: 50,700,378 (GRCm38) T91A probably benign Het
Spata31f3 T C 4: 42,868,564 (GRCm38) E353G probably benign Het
Taok3 T C 5: 117,272,197 (GRCm38) M818T probably benign Het
Tas2r119 T A 15: 32,177,977 (GRCm38) F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 (GRCm38) D716G probably damaging Het
Tfg A G 16: 56,701,102 (GRCm38) S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 (GRCm38) I45V probably damaging Het
Tle1 A G 4: 72,170,718 (GRCm38) L96P probably damaging Het
Tmem260 A C 14: 48,480,325 (GRCm38) S276R possibly damaging Het
Utp20 A G 10: 88,764,781 (GRCm38) S24P probably damaging Het
Vcam1 T C 3: 116,115,951 (GRCm38) I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 (GRCm38) N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 (GRCm38) Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 (GRCm38) I822V probably benign Het
Wdr6 C T 9: 108,574,897 (GRCm38) V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 (GRCm38) K132N possibly damaging Het
Other mutations in Henmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0049:Henmt1 UTSW 3 108,953,789 (GRCm38) splice site probably benign
R0143:Henmt1 UTSW 3 108,953,802 (GRCm38) missense probably damaging 0.98
R0391:Henmt1 UTSW 3 108,958,535 (GRCm38) splice site probably benign
R4035:Henmt1 UTSW 3 108,958,685 (GRCm38) missense probably damaging 1.00
R4580:Henmt1 UTSW 3 108,942,765 (GRCm38) missense probably benign 0.00
R5162:Henmt1 UTSW 3 108,940,050 (GRCm38) splice site probably null
R5270:Henmt1 UTSW 3 108,960,214 (GRCm38) missense probably benign 0.03
R5550:Henmt1 UTSW 3 108,953,868 (GRCm38) missense probably damaging 1.00
R7629:Henmt1 UTSW 3 108,958,597 (GRCm38) missense probably benign 0.00
R8341:Henmt1 UTSW 3 108,958,592 (GRCm38) missense probably damaging 1.00
R8413:Henmt1 UTSW 3 108,957,649 (GRCm38) missense probably damaging 1.00
R8807:Henmt1 UTSW 3 108,960,336 (GRCm38) makesense probably null
R9512:Henmt1 UTSW 3 108,960,129 (GRCm38) missense probably benign 0.14
X0063:Henmt1 UTSW 3 108,960,320 (GRCm38) nonsense probably null
Posted On 2013-12-09