Incidental Mutation 'IGL02659:Higd1c'
ID 302460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Higd1c
Ensembl Gene ENSMUSG00000093550
Gene Name HIG1 domain family, member 1C
Synonyms LOC380975, HIG1-4, Yghl1-4
Accession Numbers
Essential gene? Not available question?
Stock # IGL02659
Quality Score
Status
Chromosome 15
Chromosomal Location 100262466-100281836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100281622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 249 (M249L)
Ref Sequence ENSEMBL: ENSMUSP00000075098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000075675] [ENSMUST00000175683] [ENSMUST00000175929] [ENSMUST00000177211]
AlphaFold Q76I25
Predicted Effect probably benign
Transcript: ENSMUST00000023774
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 1.1e-122 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075675
AA Change: M249L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075098
Gene: ENSMUSG00000093789
AA Change: M249L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ubie_methyltran 45 175 3.6e-7 PFAM
Pfam:Methyltransf_23 48 168 2.4e-14 PFAM
Pfam:Methyltransf_31 68 188 3e-12 PFAM
Pfam:Methyltransf_25 74 167 7.5e-11 PFAM
Pfam:Methyltransf_12 75 167 6.2e-14 PFAM
Pfam:Methyltransf_11 75 168 7e-20 PFAM
Pfam:HIG_1_N 192 244 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175683
AA Change: M81L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134927
Gene: ENSMUSG00000093550
AA Change: M81L

DomainStartEndE-ValueType
Pfam:HIG_1_N 24 76 1.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175929
SMART Domains Protein: ENSMUSP00000135002
Gene: ENSMUSG00000093789

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ubie_methyltran 44 178 7e-8 PFAM
Pfam:Methyltransf_23 48 177 8.6e-15 PFAM
Pfam:Methyltransf_31 68 177 1.9e-12 PFAM
Pfam:Methyltransf_18 70 173 5e-9 PFAM
Pfam:Methyltransf_25 74 167 4.5e-11 PFAM
Pfam:Methyltransf_11 75 167 6e-21 PFAM
Pfam:Methyltransf_12 75 167 4.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177211
AA Change: M81L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134848
Gene: ENSMUSG00000093550
AA Change: M81L

DomainStartEndE-ValueType
Pfam:HIG_1_N 22 76 7e-23 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,708,298 (GRCm39) N192I probably damaging Het
Arhgap15 A T 2: 43,953,849 (GRCm39) I192F probably damaging Het
Atp10a T C 7: 58,463,379 (GRCm39) F971L probably benign Het
Cacna1e G T 1: 154,302,274 (GRCm39) F1660L probably damaging Het
Cep152 G A 2: 125,421,469 (GRCm39) T1087M probably damaging Het
Ces2b T C 8: 105,559,202 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,115 (GRCm39) D219G unknown Het
Desi2 G A 1: 178,076,843 (GRCm39) A116T probably damaging Het
Eri2 T A 7: 119,386,665 (GRCm39) Q202L probably damaging Het
Gtf2ird1 G A 5: 134,405,895 (GRCm39) P715L probably damaging Het
Il5ra T A 6: 106,719,644 (GRCm39) H63L possibly damaging Het
Lamb3 T A 1: 193,014,469 (GRCm39) C543S probably damaging Het
Lnpep T A 17: 17,791,162 (GRCm39) I461F possibly damaging Het
Lum A G 10: 97,404,609 (GRCm39) H168R probably benign Het
Magi1 T C 6: 93,762,591 (GRCm39) E77G possibly damaging Het
Mrpl13 T C 15: 55,421,135 (GRCm39) probably null Het
Mtpap T A 18: 4,380,703 (GRCm39) L127* probably null Het
Myo15a T C 11: 60,382,609 (GRCm39) probably benign Het
Nek1 A G 8: 61,542,514 (GRCm39) S726G probably benign Het
Nlrp5 C A 7: 23,118,006 (GRCm39) H577N probably damaging Het
Nynrin G A 14: 56,103,554 (GRCm39) probably benign Het
Or14c40 A G 7: 86,313,289 (GRCm39) M140V probably benign Het
Or2h15 C T 17: 38,441,427 (GRCm39) G219S possibly damaging Het
Pappa2 A T 1: 158,764,364 (GRCm39) D382E probably damaging Het
Plekhg1 T A 10: 3,907,069 (GRCm39) L516* probably null Het
Prune1 A G 3: 95,162,711 (GRCm39) S321P possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Thbs1 T G 2: 117,945,273 (GRCm39) V282G probably benign Het
Unc13b C T 4: 43,235,332 (GRCm39) R880C probably damaging Het
Vmn2r77 T G 7: 86,449,979 (GRCm39) I75S probably benign Het
Vps13a A T 19: 16,630,063 (GRCm39) I2690K probably damaging Het
Zfp286 T C 11: 62,674,563 (GRCm39) N94S possibly damaging Het
Other mutations in Higd1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Higd1c APN 15 100,263,247 (GRCm39) splice site probably benign
Posted On 2015-04-16