Incidental Mutation 'R3902:Hacd4'
ID 309223
Institutional Source Beutler Lab
Gene Symbol Hacd4
Ensembl Gene ENSMUSG00000028497
Gene Name 3-hydroxyacyl-CoA dehydratase 4
Synonyms Ptplad2, 4933428I03Rik
MMRRC Submission 040811-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R3902 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 88325924-88357175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88355738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 49 (I49R)
Ref Sequence ENSEMBL: ENSMUSP00000119411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030221] [ENSMUST00000132493]
AlphaFold A2AKM2
Predicted Effect probably damaging
Transcript: ENSMUST00000030221
AA Change: I34R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
AA Change: I34R

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: I49R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
AA Change: I49R

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 80 234 1.5e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000151280
AA Change: I53R
SMART Domains Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
AA Change: I53R

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:PTPLA 85 244 3e-37 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atmin A G 8: 117,683,036 (GRCm39) N232S probably benign Het
Brat1 A C 5: 140,703,751 (GRCm39) D668A possibly damaging Het
Eif2b3 C T 4: 116,879,404 (GRCm39) R15W probably damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
F5 A G 1: 164,003,798 (GRCm39) T198A probably benign Het
Fbxl20 T A 11: 97,987,861 (GRCm39) T61S probably benign Het
Fry A G 5: 150,269,392 (GRCm39) E211G probably damaging Het
Gatd1 A G 7: 140,989,014 (GRCm39) L215P probably damaging Het
Gys2 A G 6: 142,418,526 (GRCm39) M1T probably null Het
Jph3 G T 8: 122,480,158 (GRCm39) D279Y possibly damaging Het
Klhl26 T C 8: 70,905,016 (GRCm39) D217G probably damaging Het
Kmt2e A G 5: 23,706,640 (GRCm39) N1401S probably benign Het
Mettl21a C T 1: 64,647,240 (GRCm39) V106I probably benign Het
Mpdz A G 4: 81,225,353 (GRCm39) V1427A probably damaging Het
Mug2 A T 6: 122,052,526 (GRCm39) D1024V probably damaging Het
Myl7 T A 11: 5,848,430 (GRCm39) K38M probably damaging Het
Myl7 T G 11: 5,848,431 (GRCm39) K38Q probably damaging Het
Myom2 T C 8: 15,154,165 (GRCm39) V701A probably benign Het
Nipbl A G 15: 8,379,730 (GRCm39) S1021P possibly damaging Het
Optc A G 1: 133,825,701 (GRCm39) M275T probably benign Het
Pclo A T 5: 14,762,536 (GRCm39) T385S probably benign Het
Pdgfra T A 5: 75,353,169 (GRCm39) N986K probably benign Het
Pira1 G A 7: 3,740,276 (GRCm39) T315I probably damaging Het
Plekhn1 T A 4: 156,310,126 (GRCm39) I63F possibly damaging Het
Pogk C T 1: 166,231,193 (GRCm39) V45I probably damaging Het
Rassf1 A G 9: 107,432,039 (GRCm39) Y21C probably damaging Het
Slc12a1 A T 2: 125,030,113 (GRCm39) I562F probably damaging Het
Slc16a6 A G 11: 109,349,387 (GRCm39) S141P probably damaging Het
Sntn T C 14: 13,679,084 (GRCm38) L86P probably damaging Het
Styx-ps A G X: 67,865,253 (GRCm39) M101V probably benign Het
Taar4 T A 10: 23,836,913 (GRCm39) N174K probably damaging Het
Trav12-3 G T 14: 53,859,486 (GRCm39) C44F probably damaging Het
Triml2 A G 8: 43,643,397 (GRCm39) R240G probably benign Het
Vmn1r3 A G 4: 3,185,241 (GRCm39) M22T probably benign Het
Vmn2r7 C A 3: 64,626,937 (GRCm39) Q26H possibly damaging Het
Vmn2r72 T C 7: 85,398,943 (GRCm39) D470G possibly damaging Het
Xpo6 A G 7: 125,719,581 (GRCm39) Y602H probably damaging Het
Zfp287 T C 11: 62,603,028 (GRCm39) T241A probably benign Het
Zfp386 A G 12: 116,023,775 (GRCm39) K498E probably damaging Het
Zzef1 T C 11: 72,799,326 (GRCm39) L2392P probably damaging Het
Other mutations in Hacd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Hacd4 APN 4 88,341,285 (GRCm39) missense probably damaging 0.98
PIT4260001:Hacd4 UTSW 4 88,316,343 (GRCm39) nonsense probably null
PIT4260001:Hacd4 UTSW 4 88,316,342 (GRCm39) missense unknown
R0597:Hacd4 UTSW 4 88,355,757 (GRCm39) missense probably damaging 1.00
R0625:Hacd4 UTSW 4 88,353,247 (GRCm39) missense probably benign 0.04
R1054:Hacd4 UTSW 4 88,341,264 (GRCm39) missense probably damaging 0.96
R1069:Hacd4 UTSW 4 88,355,739 (GRCm39) missense probably damaging 0.99
R1478:Hacd4 UTSW 4 88,341,260 (GRCm39) missense probably damaging 1.00
R1944:Hacd4 UTSW 4 88,341,303 (GRCm39) missense possibly damaging 0.73
R2339:Hacd4 UTSW 4 88,341,336 (GRCm39) critical splice acceptor site probably null
R3177:Hacd4 UTSW 4 88,355,747 (GRCm39) missense probably damaging 1.00
R3277:Hacd4 UTSW 4 88,355,747 (GRCm39) missense probably damaging 1.00
R4429:Hacd4 UTSW 4 88,353,184 (GRCm39) missense possibly damaging 0.50
R5834:Hacd4 UTSW 4 88,316,389 (GRCm39) missense probably benign 0.00
R6242:Hacd4 UTSW 4 88,332,524 (GRCm39) missense probably benign
R7252:Hacd4 UTSW 4 88,345,000 (GRCm39) missense possibly damaging 0.73
R7508:Hacd4 UTSW 4 88,355,715 (GRCm39) missense probably benign 0.06
R7857:Hacd4 UTSW 4 88,355,702 (GRCm39) missense probably damaging 1.00
R8523:Hacd4 UTSW 4 88,353,286 (GRCm39) missense probably damaging 1.00
R9096:Hacd4 UTSW 4 88,355,695 (GRCm39) critical splice donor site probably null
R9162:Hacd4 UTSW 4 88,338,017 (GRCm39) missense probably benign 0.37
X0004:Hacd4 UTSW 4 88,341,245 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCAGAGCAAACTGGCAGC -3'
(R):5'- ATGGGTTTGGAGGGACAACC -3'

Sequencing Primer
(F):5'- AGCAAACTGGCAGCTCTGG -3'
(R):5'- CCCAGTGAAAGACCCCAATATAG -3'
Posted On 2015-04-17