Incidental Mutation 'R3277:Hacd4'
ID 475844
Institutional Source Beutler Lab
Gene Symbol Hacd4
Ensembl Gene ENSMUSG00000028497
Gene Name 3-hydroxyacyl-CoA dehydratase 4
Synonyms 4933428I03Rik, Ptplad2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R3277 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 88396144-88438928 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88437510 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 46 (H46R)
Ref Sequence ENSEMBL: ENSMUSP00000119411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030221] [ENSMUST00000132493]
AlphaFold A2AKM2
Predicted Effect possibly damaging
Transcript: ENSMUST00000030221
AA Change: H31R

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
AA Change: H31R

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PTPLA 65 226 3.4e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132493
AA Change: H46R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
AA Change: H46R

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 80 234 1.5e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000151280
AA Change: H50R
SMART Domains Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
AA Change: H50R

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:PTPLA 85 244 3e-37 PFAM
Meta Mutation Damage Score 0.6102 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,472,100 (GRCm38) R553G possibly damaging Het
Adarb2 A G 13: 8,752,627 (GRCm38) N646S probably damaging Het
Adcy8 C T 15: 64,699,159 (GRCm38) G1242S probably benign Het
Ano9 T A 7: 141,104,124 (GRCm38) T543S probably damaging Het
Btnl10 A G 11: 58,922,390 (GRCm38) K282E probably benign Het
Btnl9 T C 11: 49,169,676 (GRCm38) D330G probably damaging Het
Ccdc178 G T 18: 22,067,652 (GRCm38) A416E possibly damaging Het
Cdx2 A T 5: 147,303,192 (GRCm38) S225T probably benign Het
Clca4b T C 3: 144,911,359 (GRCm38) I843M probably benign Het
Cntn4 G A 6: 106,437,964 (GRCm38) probably null Het
Cyp4f18 T C 8: 71,993,200 (GRCm38) D317G possibly damaging Het
Dennd4a G T 9: 64,888,993 (GRCm38) R767L probably damaging Het
Dgkb G A 12: 38,084,217 (GRCm38) V41M probably damaging Het
Duox1 T C 2: 122,340,116 (GRCm38) Y1206H probably damaging Het
Dync1i1 T C 6: 5,972,211 (GRCm38) probably null Het
Fbxw2 T C 2: 34,822,750 (GRCm38) T100A probably benign Het
Fcgbp C A 7: 28,091,661 (GRCm38) H782Q probably damaging Het
Flg2 A T 3: 93,214,888 (GRCm38) Q1455L unknown Het
Frrs1 T C 3: 116,899,224 (GRCm38) F49S probably damaging Het
Gli3 A T 13: 15,725,982 (GRCm38) Q1318L probably benign Het
Gm5592 A G 7: 41,288,380 (GRCm38) E362G probably benign Het
Gm7104 A T 12: 88,285,728 (GRCm38) noncoding transcript Het
Gpatch2l A G 12: 86,244,315 (GRCm38) T91A possibly damaging Het
Herc2 T C 7: 56,153,428 (GRCm38) V2175A probably benign Het
Hey1 T C 3: 8,664,891 (GRCm38) S169G probably benign Het
Hivep2 C A 10: 14,128,969 (GRCm38) T437K probably benign Het
Hlf T C 11: 90,345,835 (GRCm38) K199E probably damaging Het
Hpgd C A 8: 56,298,413 (GRCm38) A92E probably damaging Het
Hsp90aa1 T A 12: 110,695,680 (GRCm38) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,695,681 (GRCm38) probably null Het
Itgad C A 7: 128,190,981 (GRCm38) H651N possibly damaging Het
Itgav A G 2: 83,776,542 (GRCm38) D409G probably damaging Het
Kif2a A G 13: 106,976,756 (GRCm38) I455T probably damaging Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Lamc3 G T 2: 31,908,625 (GRCm38) G448C probably damaging Het
Ltbp1 G A 17: 75,276,480 (GRCm38) G425D possibly damaging Het
Ltbp1 T A 17: 75,359,278 (GRCm38) probably null Het
Mag C T 7: 30,901,648 (GRCm38) probably null Het
Mdh1b G A 1: 63,711,531 (GRCm38) T426M possibly damaging Het
Nr1h4 G A 10: 89,478,788 (GRCm38) T282I possibly damaging Het
Nsf C T 11: 103,930,752 (GRCm38) E26K possibly damaging Het
Olfr1231 C T 2: 89,303,218 (GRCm38) V125M possibly damaging Het
Olfr1412 A G 1: 92,588,813 (GRCm38) N161S probably benign Het
Olfr552 T C 7: 102,604,576 (GRCm38) V74A possibly damaging Het
Padi6 A G 4: 140,735,389 (GRCm38) L307P probably damaging Het
Parp9 T C 16: 35,948,208 (GRCm38) S20P probably damaging Het
Pdcd11 T C 19: 47,113,264 (GRCm38) F963L probably damaging Het
Pwp1 C T 10: 85,882,079 (GRCm38) L294F probably benign Het
Radil A G 5: 142,506,856 (GRCm38) L339P probably damaging Het
Raver1 G A 9: 21,079,277 (GRCm38) P316S possibly damaging Het
Rell1 A G 5: 63,926,987 (GRCm38) probably null Het
Rxrg A G 1: 167,635,700 (GRCm38) D257G possibly damaging Het
Sema4c C T 1: 36,549,879 (GRCm38) R722H possibly damaging Het
Sgk1 C T 10: 21,996,601 (GRCm38) R171W probably damaging Het
Spata7 A G 12: 98,637,598 (GRCm38) N75D possibly damaging Het
Ttc23l A G 15: 10,547,232 (GRCm38) F99L possibly damaging Het
Unc13a A C 8: 71,629,695 (GRCm38) C1642G probably benign Het
Usp36 C T 11: 118,276,759 (GRCm38) probably null Het
Wrn A G 8: 33,317,554 (GRCm38) M292T probably damaging Het
Zfp423 A G 8: 87,782,331 (GRCm38) Y462H probably damaging Het
Zscan5b T A 7: 6,231,346 (GRCm38) Y124N possibly damaging Het
Zswim9 T C 7: 13,277,270 (GRCm38) T51A possibly damaging Het
Other mutations in Hacd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Hacd4 APN 4 88,423,048 (GRCm38) missense probably damaging 0.98
PIT4260001:Hacd4 UTSW 4 88,398,106 (GRCm38) nonsense probably null
PIT4260001:Hacd4 UTSW 4 88,398,105 (GRCm38) missense unknown
R0597:Hacd4 UTSW 4 88,437,520 (GRCm38) missense probably damaging 1.00
R0625:Hacd4 UTSW 4 88,435,010 (GRCm38) missense probably benign 0.04
R1054:Hacd4 UTSW 4 88,423,027 (GRCm38) missense probably damaging 0.96
R1069:Hacd4 UTSW 4 88,437,502 (GRCm38) missense probably damaging 0.99
R1478:Hacd4 UTSW 4 88,423,023 (GRCm38) missense probably damaging 1.00
R1944:Hacd4 UTSW 4 88,423,066 (GRCm38) missense possibly damaging 0.73
R2339:Hacd4 UTSW 4 88,423,099 (GRCm38) critical splice acceptor site probably null
R3177:Hacd4 UTSW 4 88,437,510 (GRCm38) missense probably damaging 1.00
R3902:Hacd4 UTSW 4 88,437,501 (GRCm38) missense probably damaging 1.00
R4429:Hacd4 UTSW 4 88,434,947 (GRCm38) missense possibly damaging 0.50
R5834:Hacd4 UTSW 4 88,398,152 (GRCm38) missense probably benign 0.00
R6242:Hacd4 UTSW 4 88,414,287 (GRCm38) missense probably benign
R7252:Hacd4 UTSW 4 88,426,763 (GRCm38) missense possibly damaging 0.73
R7508:Hacd4 UTSW 4 88,437,478 (GRCm38) missense probably benign 0.06
R7857:Hacd4 UTSW 4 88,437,465 (GRCm38) missense probably damaging 1.00
R8523:Hacd4 UTSW 4 88,435,049 (GRCm38) missense probably damaging 1.00
R9096:Hacd4 UTSW 4 88,437,458 (GRCm38) critical splice donor site probably null
R9162:Hacd4 UTSW 4 88,419,780 (GRCm38) missense probably benign 0.37
X0004:Hacd4 UTSW 4 88,423,008 (GRCm38) missense probably damaging 1.00
Predicted Primers
Posted On 2017-05-11