Incidental Mutation 'R3974:Abhd4'
ID 312553
Institutional Source Beutler Lab
Gene Symbol Abhd4
Ensembl Gene ENSMUSG00000040997
Gene Name abhydrolase domain containing 4
Synonyms 1110035H23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R3974 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54491586-54506626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54500417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 117 (I117N)
Ref Sequence ENSEMBL: ENSMUSP00000142722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041197] [ENSMUST00000180359] [ENSMUST00000196699] [ENSMUST00000197605] [ENSMUST00000197807] [ENSMUST00000199338]
AlphaFold Q8VD66
Predicted Effect possibly damaging
Transcript: ENSMUST00000041197
AA Change: I154N

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044134
Gene: ENSMUSG00000040997
AA Change: I154N

DomainStartEndE-ValueType
Pfam:Hydrolase_4 78 340 1.1e-14 PFAM
Pfam:Abhydrolase_1 82 340 5.1e-26 PFAM
Pfam:Abhydrolase_5 83 334 5.8e-12 PFAM
Pfam:Abhydrolase_6 84 346 4.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180359
AA Change: I117N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137214
Gene: ENSMUSG00000040997
AA Change: I117N

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 46 297 4.3e-12 PFAM
Pfam:Abhydrolase_6 47 309 3.5e-34 PFAM
Pfam:Abhydrolase_1 71 311 5.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196699
Predicted Effect probably damaging
Transcript: ENSMUST00000197605
AA Change: I117N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142722
Gene: ENSMUSG00000040997
AA Change: I117N

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 46 182 3.5e-10 PFAM
Pfam:Abhydrolase_6 47 186 1.6e-23 PFAM
Pfam:Abhydrolase_1 71 179 2.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197802
Predicted Effect probably benign
Transcript: ENSMUST00000197807
Predicted Effect probably benign
Transcript: ENSMUST00000199338
SMART Domains Protein: ENSMUSP00000143600
Gene: ENSMUSG00000040997

DomainStartEndE-ValueType
SCOP:d1ehya_ 1 78 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199068
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,488 (GRCm39) I486T probably damaging Het
Abca8a A T 11: 109,974,328 (GRCm39) M202K probably damaging Het
Adam23 T A 1: 63,586,888 (GRCm39) Y416* probably null Het
Cenpe A G 3: 134,940,986 (GRCm39) probably null Het
Cenph A G 13: 100,900,075 (GRCm39) V151A probably damaging Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Clca3a1 A T 3: 144,738,400 (GRCm39) V36D probably damaging Het
Cnbd1 G A 4: 18,887,693 (GRCm39) R274C probably benign Het
Crot T C 5: 9,027,541 (GRCm39) T264A probably benign Het
Dll4 A G 2: 119,164,573 (GRCm39) D664G probably damaging Het
Ehbp1 C T 11: 22,087,867 (GRCm39) A406T probably benign Het
Far2 T A 6: 148,052,252 (GRCm39) I177N probably damaging Het
Flt4 T G 11: 49,527,567 (GRCm39) V910G probably damaging Het
Fmod A G 1: 133,968,496 (GRCm39) R179G probably benign Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gpx6 C A 13: 21,501,828 (GRCm39) S150Y probably damaging Het
Grik2 A T 10: 49,298,750 (GRCm39) Y37N probably damaging Het
Grn T C 11: 102,327,165 (GRCm39) V559A probably damaging Het
Lrrc37 A T 11: 103,509,927 (GRCm39) probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Myo5b T C 18: 74,767,552 (GRCm39) Y287H probably damaging Het
Nbeal2 T C 9: 110,462,914 (GRCm39) T1350A probably damaging Het
Nfkbiz T C 16: 55,638,799 (GRCm39) I220M probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Omg T A 11: 79,393,224 (GRCm39) E211D probably benign Het
Or52ab7 T G 7: 102,978,285 (GRCm39) D197E probably damaging Het
Or8k18 A T 2: 86,085,935 (GRCm39) I34N possibly damaging Het
Pcdhb4 A G 18: 37,441,901 (GRCm39) T404A possibly damaging Het
Plcl1 T A 1: 55,737,374 (GRCm39) M905K probably benign Het
Plod2 G T 9: 92,480,672 (GRCm39) G422* probably null Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Ptprq T G 10: 107,547,923 (GRCm39) K158N possibly damaging Het
Rimbp2 A G 5: 128,874,862 (GRCm39) V243A probably damaging Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Rtn4 C T 11: 29,657,505 (GRCm39) T553I probably damaging Het
Scrn3 T C 2: 73,166,121 (GRCm39) S385P possibly damaging Het
Serpina1f C A 12: 103,659,830 (GRCm39) G151* probably null Het
Sis T C 3: 72,850,968 (GRCm39) T577A probably damaging Het
Slco1a1 A T 6: 141,854,819 (GRCm39) S611T probably benign Het
Smad4 G T 18: 73,810,807 (GRCm39) T59K possibly damaging Het
Syne1 T C 10: 4,993,630 (GRCm39) D8370G probably benign Het
Tigd4 G A 3: 84,502,585 (GRCm39) A501T possibly damaging Het
Tjp1 A T 7: 64,947,387 (GRCm39) C1724* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tyw5 A T 1: 57,430,687 (GRCm39) D165E probably damaging Het
U2af2 T A 7: 5,072,438 (GRCm39) probably null Het
Ube3b T A 5: 114,550,491 (GRCm39) D839E probably benign Het
Ush2a A G 1: 188,113,698 (GRCm39) D639G probably benign Het
Veph1 A T 3: 66,065,648 (GRCm39) M473K probably benign Het
Vmn2r72 A T 7: 85,399,017 (GRCm39) N445K probably damaging Het
Vps37d T C 5: 135,105,393 (GRCm39) M77V probably null Het
Other mutations in Abhd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Abhd4 APN 14 54,504,589 (GRCm39) missense probably damaging 0.99
IGL02717:Abhd4 APN 14 54,499,079 (GRCm39) intron probably benign
R0254:Abhd4 UTSW 14 54,500,691 (GRCm39) missense probably benign 0.02
R0571:Abhd4 UTSW 14 54,500,706 (GRCm39) missense possibly damaging 0.73
R2015:Abhd4 UTSW 14 54,500,289 (GRCm39) missense probably damaging 0.99
R3852:Abhd4 UTSW 14 54,502,824 (GRCm39) missense probably damaging 1.00
R5806:Abhd4 UTSW 14 54,499,147 (GRCm39) missense probably benign 0.33
R7029:Abhd4 UTSW 14 54,500,164 (GRCm39) missense probably damaging 0.99
R7697:Abhd4 UTSW 14 54,500,216 (GRCm39) missense probably damaging 0.99
R7909:Abhd4 UTSW 14 54,499,087 (GRCm39) nonsense probably null
R8234:Abhd4 UTSW 14 54,499,133 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAAGGATCGCACCCCTCTG -3'
(R):5'- AGGTAGCATAGTTTTCCAGTTGC -3'

Sequencing Primer
(F):5'- GTGGGCCTCTGGATCCTCAAC -3'
(R):5'- TTGCTGGGGAATGAGAGCATTAC -3'
Posted On 2015-04-30