Incidental Mutation 'IGL03051:Abhd14a'
ID409052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd14a
Ensembl Gene ENSMUSG00000042210
Gene Nameabhydrolase domain containing 14A
Synonyms1110013B16Rik, Dorz1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03051
Quality Score
Status
Chromosome9
Chromosomal Location106440051-106447678 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106443929 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 76 (F76I)
Ref Sequence ENSEMBL: ENSMUSP00000140345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048527] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000185347] [ENSMUST00000185527] [ENSMUST00000186361] [ENSMUST00000187001] [ENSMUST00000187106] [ENSMUST00000187983] [ENSMUST00000190798] [ENSMUST00000190167] [ENSMUST00000216130] [ENSMUST00000215475] [ENSMUST00000217496]
Predicted Effect probably benign
Transcript: ENSMUST00000048527
SMART Domains Protein: ENSMUSP00000038755
Gene: ENSMUSG00000042073

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 34 189 7.9e-18 PFAM
Pfam:Abhydrolase_6 35 141 2.3e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048685
AA Change: F76I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 3.3e-10 PFAM
Pfam:Abhydrolase_5 73 227 8.1e-21 PFAM
Pfam:Abhydrolase_6 74 181 1e-14 PFAM
Pfam:Abhydrolase_6 176 238 1.4e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171678
AA Change: F76I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 3.3e-10 PFAM
Pfam:Abhydrolase_5 73 227 8.1e-21 PFAM
Pfam:Abhydrolase_6 74 181 1e-14 PFAM
Pfam:Abhydrolase_6 176 238 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171925
AA Change: F76I

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Abhydrolase_5 73 245 7.9e-17 PFAM
low complexity region 253 265 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000185334
AA Change: F76I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 3.3e-10 PFAM
Pfam:Abhydrolase_5 73 227 8.1e-21 PFAM
Pfam:Abhydrolase_6 74 181 1e-14 PFAM
Pfam:Abhydrolase_6 176 238 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185347
SMART Domains Protein: ENSMUSP00000140279
Gene: ENSMUSG00000042073

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 34 183 7.6e-15 PFAM
Pfam:Abhydrolase_6 35 145 4.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185527
SMART Domains Protein: ENSMUSP00000139760
Gene: ENSMUSG00000042073

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 34 174 3.3e-14 PFAM
Pfam:Abhydrolase_6 35 144 3.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186361
SMART Domains Protein: ENSMUSP00000141151
Gene: ENSMUSG00000042073

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 34 189 1.5e-17 PFAM
Pfam:Abhydrolase_6 35 145 5.1e-15 PFAM
Pfam:Abhydrolase_6 141 194 1.5e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187001
AA Change: F76I

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
SCOP:d1imja_ 51 110 1e-10 SMART
PDB:1IMJ|A 58 110 6e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000187106
SMART Domains Protein: ENSMUSP00000139597
Gene: ENSMUSG00000042073

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 34 142 2.5e-9 PFAM
Pfam:Abhydrolase_6 35 141 1.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187798
Predicted Effect probably benign
Transcript: ENSMUST00000187983
AA Change: F76I

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Abhydrolase_5 73 203 5.4e-12 PFAM
Pfam:Abhydrolase_6 74 197 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190798
AA Change: F76I

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210
AA Change: F76I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 1.7e-8 PFAM
Pfam:Abhydrolase_5 73 157 1.2e-8 PFAM
Pfam:Abhydrolase_6 74 157 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190167
SMART Domains Protein: ENSMUSP00000140655
Gene: ENSMUSG00000042073

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 34 149 1.4e-9 PFAM
Pfam:Abhydrolase_6 35 147 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216130
Predicted Effect probably benign
Transcript: ENSMUST00000215475
Predicted Effect probably benign
Transcript: ENSMUST00000217496
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Appbp2 A T 11: 85,191,739 D555E possibly damaging Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpa33 A G 1: 166,165,221 H301R probably benign Het
Gpr39 T A 1: 125,677,748 C138S probably damaging Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Mpz G A 1: 171,158,811 R98H probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Slc35b4 A T 6: 34,160,471 probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Trim59 T C 3: 69,036,873 N378S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Abhd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03204:Abhd14a APN 9 106440635 missense probably damaging 0.99
R0050:Abhd14a UTSW 9 106440883 unclassified probably benign
R1937:Abhd14a UTSW 9 106440247 unclassified probably benign
R2129:Abhd14a UTSW 9 106440865 missense probably null
R5521:Abhd14a UTSW 9 106443834 missense probably damaging 1.00
R5850:Abhd14a UTSW 9 106440349 missense probably damaging 1.00
R5971:Abhd14a UTSW 9 106443866 missense possibly damaging 0.93
R5975:Abhd14a UTSW 9 106443951 splice site probably null
R6138:Abhd14a UTSW 9 106443866 missense possibly damaging 0.93
R6644:Abhd14a UTSW 9 106444273 missense probably damaging 0.98
R8171:Abhd14a UTSW 9 106440761 missense probably benign 0.10
U15987:Abhd14a UTSW 9 106443866 missense possibly damaging 0.93
Posted On2016-08-02