Incidental Mutation 'IGL02985:Higd1a'
ID 406671
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 # IGL02985
Quality Score
Status
Chromosome 9
Chromosomal Location 121677623-121686862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121681596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 20 (F20L)
Ref Sequence ENSEMBL: ENSMUSP00000150629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060251] [ENSMUST00000213124] [ENSMUST00000213147] [ENSMUST00000214988] [ENSMUST00000215007] [ENSMUST00000215300] [ENSMUST00000216914]
AlphaFold Q9JLR9
Predicted Effect probably benign
Transcript: ENSMUST00000060251
AA Change: F20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054881
Gene: ENSMUSG00000038412
AA Change: F20L

DomainStartEndE-ValueType
Pfam:HIG_1_N 26 78 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213124
AA Change: F20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213147
AA Change: F20L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214988
AA Change: F20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215007
AA Change: F20L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000215300
AA Change: F20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216914
AA Change: F20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 113,878,641 (GRCm39) E318G probably damaging Het
Birc6 T C 17: 74,947,185 (GRCm39) V2968A probably benign Het
Bltp1 T C 3: 37,012,906 (GRCm39) L1862S probably damaging Het
Cfap91 T A 16: 38,118,634 (GRCm39) I722F probably damaging Het
Csgalnact1 A G 8: 68,913,695 (GRCm39) V170A probably benign Het
Dnaaf10 G A 11: 17,179,845 (GRCm39) G282E probably damaging Het
Dph1 A G 11: 75,074,419 (GRCm39) V131A possibly damaging Het
Galr1 A T 18: 82,411,855 (GRCm39) M337K probably benign Het
Gm14214 G T 2: 154,611,374 (GRCm39) T160N probably benign Het
Gpatch8 G T 11: 102,372,336 (GRCm39) H401N unknown Het
Hmcn1 A T 1: 150,547,668 (GRCm39) I2761K probably damaging Het
Hspg2 T A 4: 137,235,114 (GRCm39) Y83N probably damaging Het
Ilvbl C T 10: 78,414,901 (GRCm39) P255S probably benign Het
Kpna2 T C 11: 106,880,163 (GRCm39) Y495C probably benign Het
Krt36 G T 11: 99,994,005 (GRCm39) Q327K probably benign Het
Lrrc34 T C 3: 30,690,444 (GRCm39) M153V probably benign Het
Map9 A T 3: 82,267,209 (GRCm39) R30* probably null Het
Mcf2l A G 8: 13,013,239 (GRCm39) Y48C probably damaging Het
Mfsd13b T A 7: 120,599,395 (GRCm39) I397K probably damaging Het
Mpp7 C A 18: 7,461,637 (GRCm39) probably null Het
Mrgprx2 C T 7: 48,132,245 (GRCm39) C191Y probably damaging Het
Or4c58 A T 2: 89,674,684 (GRCm39) I211N possibly damaging Het
Pabpc4l A G 3: 46,401,017 (GRCm39) V209A possibly damaging Het
Pde7a T A 3: 19,365,047 (GRCm39) H40L probably damaging Het
Phactr3 T C 2: 177,817,250 (GRCm39) V22A probably benign Het
Plcl2 G T 17: 50,994,842 (GRCm39) E1104* probably null Het
Ppp2cb A G 8: 34,105,474 (GRCm39) probably benign Het
Prl3c1 A T 13: 27,383,370 (GRCm39) Y12F probably damaging Het
Prune2 T C 19: 16,993,723 (GRCm39) probably null Het
Rfesd T C 13: 76,156,331 (GRCm39) D25G probably damaging Het
Rxfp1 C A 3: 79,559,533 (GRCm39) M429I possibly damaging Het
Tmf1 A G 6: 97,153,770 (GRCm39) L101P probably damaging Het
Ube2d2b T C 5: 107,978,663 (GRCm39) S105P probably damaging Het
Zfp518a C T 19: 40,902,111 (GRCm39) T680I possibly damaging Het
Other mutations in Higd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Higd1a APN 9 121,678,749 (GRCm39) missense possibly damaging 0.89
IGL02398:Higd1a APN 9 121,681,590 (GRCm39) missense probably damaging 1.00
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 2016-08-02