Incidental Mutation 'IGL01023:Higd1a'
ID53783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Higd1a
Ensembl Gene ENSMUSG00000038412
Gene NameHIG1 domain family, member 1A
Synonyms2210020B17Rik, 7420700H20Rik, Hig1, HIMP1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01023
Quality Score
Status
Chromosome9
Chromosomal Location121848563-121858362 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121849683 bp
ZygosityHeterozygous
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]
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: 128,629,729 L1472P probably damaging Het
BC005561 T A 5: 104,520,500 W963R probably damaging Het
Col18a1 C T 10: 77,070,975 V1151M probably damaging Het
Crmp1 A T 5: 37,276,313 D286V probably damaging Het
Ddx60 A T 8: 61,942,514 I162F probably damaging Het
Fam24b A T 7: 131,326,174 C95* probably null Het
Fsd1 A G 17: 55,988,245 Y78C probably damaging Het
Galc C T 12: 98,231,422 V343I probably benign Het
Glis2 C T 16: 4,611,650 R214C probably damaging Het
Gm14406 A T 2: 177,569,239 C416S probably damaging Het
Gm5724 A G 6: 141,754,429 S126P probably benign Het
Gnat3 T C 5: 18,003,828 S177P probably damaging Het
Hp1bp3 T C 4: 138,240,629 V421A possibly damaging Het
Ipo11 A T 13: 106,897,259 F238L probably benign Het
Med26 A T 8: 72,495,874 F460L possibly damaging Het
Olfr1111 T A 2: 87,149,825 T279S possibly damaging Het
Osbp2 T C 11: 3,863,387 I161V probably benign Het
Prr5 T C 15: 84,699,655 V152A possibly damaging Het
Prx T A 7: 27,519,419 I1115K probably benign Het
Ptpn22 A G 3: 103,903,374 I708M probably benign Het
Robo3 T C 9: 37,429,551 T120A probably damaging Het
Setd2 C A 9: 110,547,513 S132* probably null Het
Slc9a1 A G 4: 133,422,143 E760G probably benign Het
Stx16 A T 2: 174,092,409 H135L probably damaging Het
Tas2r131 A T 6: 132,957,801 L15Q probably damaging Het
Tmcc1 A G 6: 116,043,027 L128P probably damaging Het
Tmem269 C A 4: 119,209,314 M182I probably benign Het
Tnfaip8l2 A G 3: 95,140,415 S46P probably damaging Het
Trim30c A G 7: 104,382,972 probably benign Het
Unc13a C T 8: 71,661,825 E184K probably benign Het
Wfs1 A T 5: 36,967,917 C467* probably null Het
Zfp78 G A 7: 6,375,588 G77D possibly damaging Het
Other mutations in Higd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02398:Higd1a APN 9 121852524 missense probably damaging 1.00
IGL02985:Higd1a APN 9 121852530 missense probably benign 0.00
IGL02998:Higd1a APN 9 121849624 unclassified probably benign
R2125:Higd1a UTSW 9 121850247 missense probably damaging 0.99
R2126:Higd1a UTSW 9 121850247 missense probably damaging 0.99
R7684:Higd1a UTSW 9 121850256 missense possibly damaging 0.64
Posted On2013-06-28