Incidental Mutation 'IGL02540:Higd1c'
ID 297688
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 # IGL02540
Quality Score
Status
Chromosome 15
Chromosomal Location 100262466-100281836 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 100263247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075675] [ENSMUST00000088142] [ENSMUST00000175683] [ENSMUST00000175929] [ENSMUST00000176287] [ENSMUST00000177211]
AlphaFold Q76I25
Predicted Effect probably benign
Transcript: ENSMUST00000075675
SMART Domains Protein: ENSMUSP00000075098
Gene: ENSMUSG00000093789

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: ENSMUST00000088142
SMART Domains Protein: ENSMUSP00000085467
Gene: ENSMUSG00000056487

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 45 198 4.5e-11 PFAM
Pfam:Methyltransf_23 49 222 2.7e-19 PFAM
Pfam:Methyltransf_31 68 225 5.1e-16 PFAM
Pfam:Methyltransf_18 70 175 8e-11 PFAM
Pfam:Methyltransf_25 74 168 4e-12 PFAM
Pfam:Methyltransf_12 75 170 8.6e-16 PFAM
Pfam:Methyltransf_11 75 172 1.1e-23 PFAM
Pfam:Methyltransf_8 117 240 5.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175683
SMART Domains Protein: ENSMUSP00000134927
Gene: ENSMUSG00000093550

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: ENSMUST00000176287
SMART Domains Protein: ENSMUSP00000135213
Gene: ENSMUSG00000056487

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 45 197 3.3e-8 PFAM
Pfam:Methyltransf_23 49 222 2e-16 PFAM
Pfam:Methyltransf_31 68 225 9.8e-14 PFAM
Pfam:Methyltransf_18 70 175 3.1e-9 PFAM
Pfam:Methyltransf_25 74 167 1.1e-10 PFAM
Pfam:Methyltransf_12 75 167 1.1e-13 PFAM
Pfam:Methyltransf_11 75 172 1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177211
SMART Domains Protein: ENSMUSP00000134848
Gene: ENSMUSG00000093550

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 C A 6: 119,336,456 (GRCm39) R169L probably benign Het
Arhgap1 C T 2: 91,500,584 (GRCm39) T371I probably damaging Het
Brpf3 C T 17: 29,047,328 (GRCm39) P1031S probably damaging Het
Cenpu A G 8: 47,031,354 (GRCm39) H245R probably damaging Het
Dhx36 A G 3: 62,414,309 (GRCm39) S18P probably benign Het
Dst A G 1: 34,174,285 (GRCm39) T217A probably damaging Het
Ecpas A T 4: 58,805,534 (GRCm39) probably benign Het
Entpd8 A G 2: 24,974,731 (GRCm39) probably null Het
Fez1 A G 9: 36,761,695 (GRCm39) R122G probably damaging Het
Heatr5b A T 17: 79,081,001 (GRCm39) M1417K probably damaging Het
Icosl G A 10: 77,905,370 (GRCm39) probably null Het
Il24 T C 1: 130,815,040 (GRCm39) probably benign Het
Kank3 T A 17: 34,038,161 (GRCm39) probably benign Het
Lrriq1 A G 10: 103,050,880 (GRCm39) L624P probably benign Het
Mov10l1 C A 15: 88,902,414 (GRCm39) T768K probably benign Het
Or14a258 T A 7: 86,035,386 (GRCm39) T161S possibly damaging Het
Or5ak25 A G 2: 85,269,259 (GRCm39) M81T probably benign Het
Or5aq7 A T 2: 86,938,386 (GRCm39) L115Q probably damaging Het
Pkn2 A T 3: 142,515,465 (GRCm39) F649I probably benign Het
Pld1 A G 3: 28,083,309 (GRCm39) probably benign Het
Prrc2c G A 1: 162,550,706 (GRCm39) S86L probably damaging Het
Rai1 G A 11: 60,077,750 (GRCm39) A605T probably benign Het
Reln T A 5: 22,239,750 (GRCm39) Q839L probably damaging Het
Rrp9 T C 9: 106,360,746 (GRCm39) probably benign Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tmtc2 A T 10: 105,249,200 (GRCm39) C178S probably benign Het
Vmn1r172 T A 7: 23,359,350 (GRCm39) F78L probably benign Het
Zfpm1 A G 8: 123,058,859 (GRCm39) S160G possibly damaging Het
Other mutations in Higd1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02659:Higd1c APN 15 100,281,622 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16