Incidental Mutation 'R6644:Abhd14a'
ID 526006
Institutional Source Beutler Lab
Gene Symbol Abhd14a
Ensembl Gene ENSMUSG00000042210
Gene Name abhydrolase domain containing 14A
Synonyms Dorz1, 1110013B16Rik
MMRRC Submission 044765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6644 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106317250-106324877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106321472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 10 (Y10C)
Ref Sequence ENSEMBL: ENSMUSP00000140901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048527] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000185347] [ENSMUST00000187001] [ENSMUST00000187983] [ENSMUST00000190798] [ENSMUST00000187106] [ENSMUST00000215475] [ENSMUST00000217496] [ENSMUST00000185527] [ENSMUST00000186361] [ENSMUST00000216130] [ENSMUST00000190167]
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 probably damaging
Transcript: ENSMUST00000048685
AA Change: Y10C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210
AA Change: Y10C

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 damaging
Transcript: ENSMUST00000171678
AA Change: Y10C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
AA Change: Y10C

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 damaging
Transcript: ENSMUST00000171925
AA Change: Y10C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
AA Change: Y10C

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 probably damaging
Transcript: ENSMUST00000185334
AA Change: Y10C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
AA Change: Y10C

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 damaging
Transcript: ENSMUST00000187001
AA Change: Y10C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210
AA Change: Y10C

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 damaging
Transcript: ENSMUST00000187983
AA Change: Y10C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
AA Change: Y10C

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 possibly damaging
Transcript: ENSMUST00000190798
AA Change: Y10C

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210
AA Change: Y10C

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 noncoding transcript
Transcript: ENSMUST00000187798
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: ENSMUST00000215475
Predicted Effect probably benign
Transcript: ENSMUST00000217496
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: ENSMUST00000216130
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C T 10: 79,844,598 (GRCm39) P1461L probably damaging Het
Adcy2 C T 13: 68,816,671 (GRCm39) V772M possibly damaging Het
Apob A G 12: 8,059,077 (GRCm39) M2487V probably damaging Het
B4galnt1 T C 10: 127,007,662 (GRCm39) probably null Het
Cabp7 C T 11: 4,690,396 (GRCm39) V76I probably benign Het
Cbr3 A G 16: 93,487,399 (GRCm39) Y194C probably damaging Het
Cdk18 G A 1: 132,049,807 (GRCm39) Q58* probably null Het
Cryba4 T C 5: 112,394,628 (GRCm39) D167G probably damaging Het
Czib T G 4: 107,752,119 (GRCm39) I130S probably damaging Het
Dner T C 1: 84,373,428 (GRCm39) N588S probably damaging Het
Dnm1l T C 16: 16,147,737 (GRCm39) I343V probably benign Het
Eif1ad16 A G 12: 87,985,460 (GRCm39) F28L probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxw17 G A 13: 50,577,255 (GRCm39) R49Q probably damaging Het
Garin2 T A 12: 78,762,060 (GRCm39) D241E probably damaging Het
Gm10332 T A 14: 55,057,616 (GRCm39) F59I probably damaging Het
Gnai3 A G 3: 108,030,852 (GRCm39) probably null Het
Helz T A 11: 107,523,087 (GRCm39) M75K possibly damaging Het
Hnrnph3 C T 10: 62,854,672 (GRCm39) probably benign Het
Ifi211 C T 1: 173,733,118 (GRCm39) C181Y probably benign Het
Immp1l A G 2: 105,767,390 (GRCm39) K83R probably damaging Het
Itga6 G A 2: 71,671,468 (GRCm39) G740R probably damaging Het
Klhl1 T C 14: 96,755,354 (GRCm39) T134A probably benign Het
Klhl7 A G 5: 24,354,244 (GRCm39) D353G probably damaging Het
Map3k1 A G 13: 111,888,983 (GRCm39) S1325P probably benign Het
Map3k4 A G 17: 12,451,297 (GRCm39) probably null Het
Meioc G A 11: 102,559,286 (GRCm39) probably null Het
Mfap5 T C 6: 122,497,555 (GRCm39) F26L probably damaging Het
Myo5a A G 9: 75,054,249 (GRCm39) T386A probably damaging Het
Npc1l1 A T 11: 6,164,013 (GRCm39) L1266Q probably damaging Het
Npc1l1 G T 11: 6,164,014 (GRCm39) L1266M probably damaging Het
Or4c116 A G 2: 88,942,325 (GRCm39) M177T probably benign Het
Or51aa2 C A 7: 103,188,265 (GRCm39) V59F possibly damaging Het
Pbld1 T A 10: 62,910,842 (GRCm39) S233T probably damaging Het
Phf12 A G 11: 77,916,918 (GRCm39) *789W probably null Het
Sf3b2 A T 19: 5,329,992 (GRCm39) probably null Het
Slc23a3 A G 1: 75,105,191 (GRCm39) I459T probably damaging Het
Spata31e4 A G 13: 50,856,071 (GRCm39) T570A possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Stard9 A C 2: 120,526,253 (GRCm39) M837L probably benign Het
Stx5a A T 19: 8,732,612 (GRCm39) probably benign Het
Tmc7 A G 7: 118,137,385 (GRCm39) V719A probably benign Het
Trank1 T A 9: 111,193,902 (GRCm39) I642K possibly damaging Het
Trim34a T C 7: 103,910,244 (GRCm39) Y349H probably damaging Het
Uba7 A G 9: 107,858,671 (GRCm39) Y834C possibly damaging Het
Ube2d1 A G 10: 71,092,530 (GRCm39) S105P possibly damaging Het
Vps13a A G 19: 16,722,283 (GRCm39) V343A possibly damaging Het
Zbtb37 G A 1: 160,859,643 (GRCm39) Q221* probably null Het
Zfp119b T C 17: 56,246,148 (GRCm39) N346S probably benign Het
Zfp708 G T 13: 67,218,785 (GRCm39) T358K 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
R6138:Abhd14a UTSW 9 106,321,065 (GRCm39) missense possibly damaging 0.93
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'- GAGTAAACCTTCACCTGCGTG -3'
(R):5'- AGCTAACACAGTGATAATGATAGCC -3'

Sequencing Primer
(F):5'- CGTGCCTGCTGGATTGGC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2018-06-22