Incidental Mutation 'IGL01023:Higd1a'
ID 53783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Higd1a
Ensembl Gene ENSMUSG00000038412
Gene Name HIG1 domain family, member 1A
Synonyms Hig1, HIMP1, 2210020B17Rik, 7420700H20Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01023
Quality Score
Status
Chromosome 9
Chromosomal Location 121677623-121686862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121678749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 80 (G80D)
Ref Sequence ENSEMBL: ENSMUSP00000150726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060251] [ENSMUST00000213124] [ENSMUST00000213147] [ENSMUST00000214988] [ENSMUST00000215007] [ENSMUST00000215300] [ENSMUST00000216914]
AlphaFold Q9JLR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000060251
AA Change: G80D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054881
Gene: ENSMUSG00000038412
AA Change: G80D

DomainStartEndE-ValueType
Pfam:HIG_1_N 26 78 1.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213124
AA Change: G80D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000213147
Predicted Effect probably benign
Transcript: ENSMUST00000214988
Predicted Effect probably benign
Transcript: ENSMUST00000215007
Predicted Effect possibly damaging
Transcript: ENSMUST00000215300
AA Change: G80D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000216914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217162
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,471,649 (GRCm39) L1472P probably damaging Het
Col18a1 C T 10: 76,906,809 (GRCm39) V1151M probably damaging Het
Crmp1 A T 5: 37,433,657 (GRCm39) D286V probably damaging Het
Ddx60 A T 8: 62,395,548 (GRCm39) I162F probably damaging Het
Fam24b A T 7: 130,927,903 (GRCm39) C95* probably null Het
Fsd1 A G 17: 56,295,245 (GRCm39) Y78C probably damaging Het
Galc C T 12: 98,197,681 (GRCm39) V343I probably benign Het
Glis2 C T 16: 4,429,514 (GRCm39) R214C probably damaging Het
Gm14406 A T 2: 177,261,032 (GRCm39) C416S probably damaging Het
Gnat3 T C 5: 18,208,826 (GRCm39) S177P probably damaging Het
Hp1bp3 T C 4: 137,967,940 (GRCm39) V421A possibly damaging Het
Ipo11 A T 13: 107,033,767 (GRCm39) F238L probably benign Het
Med26 A T 8: 73,249,718 (GRCm39) F460L possibly damaging Het
Or5as1 T A 2: 86,980,169 (GRCm39) T279S possibly damaging Het
Osbp2 T C 11: 3,813,387 (GRCm39) I161V probably benign Het
Prr5 T C 15: 84,583,856 (GRCm39) V152A possibly damaging Het
Prx T A 7: 27,218,844 (GRCm39) I1115K probably benign Het
Ptpn22 A G 3: 103,810,690 (GRCm39) I708M probably benign Het
Robo3 T C 9: 37,340,847 (GRCm39) T120A probably damaging Het
Setd2 C A 9: 110,376,581 (GRCm39) S132* probably null Het
Slc9a1 A G 4: 133,149,454 (GRCm39) E760G probably benign Het
Slco1a7 A G 6: 141,700,155 (GRCm39) S126P probably benign Het
Stx16 A T 2: 173,934,202 (GRCm39) H135L probably damaging Het
Tas2r131 A T 6: 132,934,764 (GRCm39) L15Q probably damaging Het
Thoc2l T A 5: 104,668,366 (GRCm39) W963R probably damaging Het
Tmcc1 A G 6: 116,019,988 (GRCm39) L128P probably damaging Het
Tmem269 C A 4: 119,066,511 (GRCm39) M182I probably benign Het
Tnfaip8l2 A G 3: 95,047,726 (GRCm39) S46P probably damaging Het
Trim30c A G 7: 104,032,179 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,469 (GRCm39) E184K probably benign Het
Wfs1 A T 5: 37,125,261 (GRCm39) C467* probably null Het
Zfp78 G A 7: 6,378,587 (GRCm39) G77D possibly damaging Het
Other mutations in Higd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02398:Higd1a APN 9 121,681,590 (GRCm39) missense probably damaging 1.00
IGL02985:Higd1a APN 9 121,681,596 (GRCm39) missense probably benign 0.00
IGL02998:Higd1a APN 9 121,678,690 (GRCm39) unclassified probably benign
R2125:Higd1a UTSW 9 121,679,313 (GRCm39) missense probably damaging 0.99
R2126:Higd1a UTSW 9 121,679,313 (GRCm39) missense probably damaging 0.99
R7684:Higd1a UTSW 9 121,679,322 (GRCm39) missense possibly damaging 0.64
Posted On 2013-06-28