Incidental Mutation 'R6138:Abhd14a'
ID 488451
Institutional Source Beutler Lab
Gene Symbol Abhd14a
Ensembl Gene ENSMUSG00000042210
Gene Name abhydrolase domain containing 14A
Synonyms Dorz1, 1110013B16Rik
MMRRC Submission 044285-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6138 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106317250-106324877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106321065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 97 (S97T)
Ref Sequence ENSEMBL: ENSMUSP00000140042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048527] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000185347] [ENSMUST00000187001] [ENSMUST00000187983] [ENSMUST00000190798] [ENSMUST00000190167] [ENSMUST00000215475] [ENSMUST00000187106] [ENSMUST00000186361] [ENSMUST00000216130] [ENSMUST00000185527] [ENSMUST00000217496]
AlphaFold no structure available at present
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: S97T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
AA Change: S97T

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 noncoding transcript
Transcript: ENSMUST00000187798
Predicted Effect possibly damaging
Transcript: ENSMUST00000187001
AA Change: S97T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210
AA Change: S97T

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: ENSMUST00000187983
AA Change: S97T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210
AA Change: S97T

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: ENSMUST00000215475
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 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: ENSMUST00000216130
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: ENSMUST00000217496
Meta Mutation Damage Score 0.1180 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Adgra2 G A 8: 27,604,457 (GRCm39) A511T probably damaging Het
Akap9 T C 5: 4,117,924 (GRCm39) probably null Het
Ccr6 G A 17: 8,475,214 (GRCm39) V140I probably damaging Het
Dlat A T 9: 50,556,417 (GRCm39) probably null Het
Gcg A G 2: 62,306,148 (GRCm39) S150P probably damaging Het
Gk5 C T 9: 96,058,290 (GRCm39) Q424* probably null Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Pramel27 T G 4: 143,578,155 (GRCm39) H87Q possibly damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Other mutations in Abhd14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03051:Abhd14a APN 9 106,321,128 (GRCm39) missense possibly damaging 0.49
IGL03204:Abhd14a APN 9 106,317,834 (GRCm39) missense probably damaging 0.99
R0050:Abhd14a UTSW 9 106,318,082 (GRCm39) unclassified probably benign
R1937:Abhd14a UTSW 9 106,317,446 (GRCm39) unclassified probably benign
R2129:Abhd14a UTSW 9 106,318,064 (GRCm39) missense probably null
R5521:Abhd14a UTSW 9 106,321,033 (GRCm39) missense probably damaging 1.00
R5850:Abhd14a UTSW 9 106,317,548 (GRCm39) missense probably damaging 1.00
R5971:Abhd14a UTSW 9 106,321,065 (GRCm39) missense possibly damaging 0.93
R5975:Abhd14a UTSW 9 106,321,150 (GRCm39) splice site probably null
R6644:Abhd14a UTSW 9 106,321,472 (GRCm39) missense probably damaging 0.98
R8171:Abhd14a UTSW 9 106,317,960 (GRCm39) missense probably benign 0.10
U15987:Abhd14a UTSW 9 106,321,065 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GACCTGCCACTGGTTTTGTC -3'
(R):5'- GCTTAATGGAGGGACCTCAG -3'

Sequencing Primer
(F):5'- GCCCTCTCTAACCTTGAA -3'
(R):5'- TCAGTCCACCACCTGGG -3'
Posted On 2017-10-10