Incidental Mutation 'R5806:Abhd4'
ID 448542
Institutional Source Beutler Lab
Gene Symbol Abhd4
Ensembl Gene ENSMUSG00000040997
Gene Name abhydrolase domain containing 4
Synonyms 1110035H23Rik
MMRRC Submission 043392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R5806 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54491586-54506626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54499147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 36 (N36D)
Ref Sequence ENSEMBL: ENSMUSP00000143121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041197] [ENSMUST00000180359] [ENSMUST00000196699] [ENSMUST00000197605] [ENSMUST00000197807] [ENSMUST00000199338]
AlphaFold Q8VD66
Predicted Effect probably benign
Transcript: ENSMUST00000041197
AA Change: N43D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044134
Gene: ENSMUSG00000040997
AA Change: N43D

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 benign
Transcript: ENSMUST00000180359
AA Change: N6D

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137214
Gene: ENSMUSG00000040997
AA Change: N6D

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
AA Change: N36D

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000197605
AA Change: N6D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142722
Gene: ENSMUSG00000040997
AA Change: N6D

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: ENSMUST00000199068
Predicted Effect probably benign
Transcript: ENSMUST00000199338
SMART Domains Protein: ENSMUSP00000143600
Gene: ENSMUSG00000040997

DomainStartEndE-ValueType
SCOP:d1ehya_ 1 78 3e-6 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,388,731 (GRCm39) M216T probably benign Het
Ankra2 T C 13: 98,405,005 (GRCm39) probably null Het
Btd A G 14: 31,389,469 (GRCm39) T397A probably benign Het
Ccbe1 T A 18: 66,209,426 (GRCm39) K205* probably null Het
Clspn A G 4: 126,479,899 (GRCm39) K1081E probably damaging Het
Cmya5 A G 13: 93,230,445 (GRCm39) S1548P possibly damaging Het
Coq8b T A 7: 26,950,050 (GRCm39) Y376* probably null Het
Cpxm1 C A 2: 130,239,393 (GRCm39) A12S probably damaging Het
Cttn T C 7: 144,015,005 (GRCm39) T68A probably damaging Het
Cyp2a12 T A 7: 26,728,504 (GRCm39) probably null Het
Ddx46 A G 13: 55,811,150 (GRCm39) Q582R possibly damaging Het
Ddx55 A G 5: 124,697,262 (GRCm39) E208G probably damaging Het
Dnaaf4 T C 9: 72,869,336 (GRCm39) L182P probably benign Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Ep400 A T 5: 110,903,420 (GRCm39) L393* probably null Het
Ern1 G C 11: 106,289,531 (GRCm39) S924C probably damaging Het
Fanci T C 7: 79,098,596 (GRCm39) I1249T probably damaging Het
Fgfbp3 T G 19: 36,895,949 (GRCm39) D223A probably damaging Het
Frmd6 T C 12: 70,936,794 (GRCm39) L313P probably damaging Het
Galnt17 A G 5: 130,906,657 (GRCm39) Y504H probably damaging Het
Gjb5 A G 4: 127,249,718 (GRCm39) I142T probably benign Het
Gvin1 T C 7: 105,757,413 (GRCm39) D2352G probably benign Het
H2-M2 G A 17: 37,792,617 (GRCm39) T218I probably damaging Het
Hal A G 10: 93,326,846 (GRCm39) T161A probably damaging Het
Helb G A 10: 119,928,424 (GRCm39) R806C probably damaging Het
Ift80 T A 3: 68,857,809 (GRCm39) I279F probably benign Het
Itln1 A T 1: 171,358,720 (GRCm39) I149N possibly damaging Het
Kcnt2 A C 1: 140,437,234 (GRCm39) T556P probably damaging Het
Klk1b22 A T 7: 43,765,301 (GRCm39) E84D possibly damaging Het
Krt78 A G 15: 101,858,937 (GRCm39) L305P probably damaging Het
Lzts2 T C 19: 45,014,806 (GRCm39) probably benign Het
Macf1 A G 4: 123,265,680 (GRCm39) L6843P probably damaging Het
Magi2 C A 5: 20,856,202 (GRCm39) H841Q probably benign Het
Mdm1 A T 10: 118,002,563 (GRCm39) H628L probably benign Het
Med23 A G 10: 24,783,119 (GRCm39) D734G probably damaging Het
Mfsd13a T C 19: 46,354,849 (GRCm39) W9R probably benign Het
Mki67 T C 7: 135,306,334 (GRCm39) H576R probably damaging Het
Muc5b A G 7: 141,416,572 (GRCm39) T3173A possibly damaging Het
Mx1 A T 16: 97,255,351 (GRCm39) V234E possibly damaging Het
Myh2 T C 11: 67,072,141 (GRCm39) L623P probably damaging Het
Naip1 C T 13: 100,581,243 (GRCm39) M1I probably null Het
Ncapd2 A T 6: 125,158,117 (GRCm39) V337E probably damaging Het
Nit2 G A 16: 56,982,056 (GRCm39) T64M possibly damaging Het
Or1e34 A T 11: 73,778,373 (GRCm39) M275K probably damaging Het
Or4c103 T C 2: 88,513,495 (GRCm39) N194D probably damaging Het
Or6e1 A T 14: 54,520,264 (GRCm39) F29L probably benign Het
Otub2 A G 12: 103,369,656 (GRCm39) E245G probably benign Het
Pde8b T C 13: 95,178,548 (GRCm39) K524R probably damaging Het
Pih1d2 C T 9: 50,529,750 (GRCm39) probably benign Het
Pik3cg T A 12: 32,254,952 (GRCm39) D345V possibly damaging Het
Plekhg4 A T 8: 106,105,542 (GRCm39) Q669L possibly damaging Het
Prlr A T 15: 10,319,290 (GRCm39) Y73F probably damaging Het
Ptk6 T C 2: 180,841,523 (GRCm39) I129V possibly damaging Het
Ranbp3 A T 17: 57,017,717 (GRCm39) T458S probably benign Het
Ren1 T A 1: 133,283,249 (GRCm39) Y128* probably null Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rnf222 T C 11: 68,783,789 (GRCm39) S119P possibly damaging Het
Rrbp1 T A 2: 143,805,251 (GRCm39) E1007V probably benign Het
Septin11 G A 5: 93,315,437 (GRCm39) E389K probably benign Het
Setbp1 A G 18: 78,899,697 (GRCm39) probably null Het
Slc25a54 T C 3: 108,987,894 (GRCm39) S12P probably benign Het
Slc26a5 A C 5: 22,028,561 (GRCm39) F336V probably damaging Het
Slc5a6 T C 5: 31,198,114 (GRCm39) T254A probably damaging Het
Smcr8 G T 11: 60,671,208 (GRCm39) probably null Het
Srcap A T 7: 127,158,335 (GRCm39) probably benign Het
Srrt A T 5: 137,296,179 (GRCm39) I509N probably damaging Het
Tcf25 T A 8: 124,108,243 (GRCm39) H99Q probably benign Het
Tmem40 A G 6: 115,713,373 (GRCm39) V76A probably benign Het
Tnni3k A T 3: 154,533,248 (GRCm39) S740T possibly damaging Het
Top3a A G 11: 60,667,746 (GRCm39) probably null Het
Tpd52l2 C A 2: 181,144,680 (GRCm39) T109K probably damaging Het
Tsnaxip1 C A 8: 106,564,128 (GRCm39) D109E possibly damaging Het
Uty G T Y: 1,170,921 (GRCm39) D313E probably damaging Het
Zfp143 A T 7: 109,685,442 (GRCm39) K423* probably null Het
Zfp407 C T 18: 84,576,739 (GRCm39) G1458D probably damaging 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
R3974:Abhd4 UTSW 14 54,500,417 (GRCm39) missense probably damaging 1.00
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'- AGTGTATCTATCGGACTGCTTAGGC -3'
(R):5'- TCCCTGCAAGCCAATGATTTTC -3'

Sequencing Primer
(F):5'- GGCATTGCTGATATTGAAGACC -3'
(R):5'- GCAAGCCAATGATTTTCTTTCC -3'
Posted On 2016-12-15