Incidental Mutation 'R1054:Hacd4'
ID94171
Institutional Source Beutler Lab
Gene Symbol Hacd4
Ensembl Gene ENSMUSG00000028497
Gene Name3-hydroxyacyl-CoA dehydratase 4
Synonyms4933428I03Rik, Ptplad2
MMRRC Submission 039144-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.498) question?
Stock #R1054 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location88396144-88438928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88423027 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 152 (W152R)
Ref Sequence ENSEMBL: ENSMUSP00000030221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030221] [ENSMUST00000132493]
Predicted Effect probably damaging
Transcript: ENSMUST00000030221
AA Change: W152R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
AA Change: W152R

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PTPLA 65 226 3.4e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132493
AA Change: W167R

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
AA Change: W167R

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 80 234 1.5e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000151280
AA Change: W171R
SMART Domains Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
AA Change: W171R

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:PTPLA 85 244 3e-37 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,751,559 T159A probably benign Het
Arhgef38 T C 3: 133,116,465 Y763C probably damaging Het
Arv1 T A 8: 124,731,872 F245Y probably benign Het
Ccdc175 A G 12: 72,178,544 I113T possibly damaging Het
Cdc42bpb A T 12: 111,313,353 M932K probably benign Het
Cdh15 T C 8: 122,864,337 F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 D105N probably damaging Het
Cpne4 A G 9: 105,022,401 T428A probably benign Het
Cramp1l T A 17: 24,983,177 I444F probably damaging Het
Dhx32 T A 7: 133,725,272 K360M probably damaging Het
Dna2 T A 10: 62,963,823 C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 142,082,067 probably benign Het
Eif3f G A 7: 108,937,817 probably null Het
Elmod1 T C 9: 53,912,774 D310G probably benign Het
Fam105a T C 15: 27,664,549 R79G probably damaging Het
Fn1 A G 1: 71,586,214 *2272Q probably null Het
Gm12800 A G 4: 101,909,164 E15G probably benign Het
Gm8765 T C 13: 50,702,396 V690A probably benign Het
Gnat1 A G 9: 107,677,439 S76P probably damaging Het
Gtf2f2 T C 14: 75,995,445 T94A probably benign Het
Kcnh8 A G 17: 52,803,484 Y241C probably damaging Het
Lepr T C 4: 101,782,596 I753T probably damaging Het
Med12l C T 3: 59,248,651 H1162Y probably damaging Het
Med25 C T 7: 44,880,380 A485T probably benign Het
Mup5 A T 4: 61,832,634 S145R probably benign Het
Myo1g A G 11: 6,518,987 V105A probably damaging Het
Npc2 A G 12: 84,760,718 probably null Het
Olfr414 A G 1: 174,430,853 T142A probably benign Het
Olfr648 A G 7: 104,180,291 I39T probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Pop1 T C 15: 34,509,809 V353A probably benign Het
Pou3f2 A G 4: 22,487,536 V199A possibly damaging Het
Ptprm A T 17: 67,042,318 N43K probably damaging Het
Qrsl1 C T 10: 43,882,081 D339N probably damaging Het
Rpl13-ps3 C A 14: 58,893,945 noncoding transcript Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr16c6 A G 4: 4,069,908 V144A probably damaging Het
Spata31d1b C A 13: 59,717,518 H827N probably damaging Het
Taf4b T A 18: 14,821,473 H535Q probably benign Het
Timmdc1 A G 16: 38,522,428 V36A probably benign Het
Tmem74b C T 2: 151,706,419 A22V probably benign Het
Txnrd3 T A 6: 89,650,561 Y65* probably null Het
Vmn1r200 T A 13: 22,395,454 S133R probably damaging Het
Vwf G A 6: 125,590,227 C311Y probably damaging Het
Wipf2 G A 11: 98,896,315 R390H possibly damaging Het
Zfp282 T A 6: 47,904,599 S407T probably benign Het
Other mutations in Hacd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Hacd4 APN 4 88423048 missense probably damaging 0.98
PIT4260001:Hacd4 UTSW 4 88398105 missense unknown
PIT4260001:Hacd4 UTSW 4 88398106 nonsense probably null
R0597:Hacd4 UTSW 4 88437520 missense probably damaging 1.00
R0625:Hacd4 UTSW 4 88435010 missense probably benign 0.04
R1069:Hacd4 UTSW 4 88437502 missense probably damaging 0.99
R1478:Hacd4 UTSW 4 88423023 missense probably damaging 1.00
R1944:Hacd4 UTSW 4 88423066 missense possibly damaging 0.73
R2339:Hacd4 UTSW 4 88423099 critical splice acceptor site probably null
R3177:Hacd4 UTSW 4 88437510 missense probably damaging 1.00
R3277:Hacd4 UTSW 4 88437510 missense probably damaging 1.00
R3902:Hacd4 UTSW 4 88437501 missense probably damaging 1.00
R4429:Hacd4 UTSW 4 88434947 missense possibly damaging 0.50
R5834:Hacd4 UTSW 4 88398152 missense probably benign 0.00
R6242:Hacd4 UTSW 4 88414287 missense probably benign
R7252:Hacd4 UTSW 4 88426763 missense possibly damaging 0.73
R7508:Hacd4 UTSW 4 88437478 missense probably benign 0.06
R7857:Hacd4 UTSW 4 88437465 missense probably damaging 1.00
X0004:Hacd4 UTSW 4 88423008 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATGATGGCAAGGACTTGGGC -3'
(R):5'- CGGGTTTCCTCCTGCAACAATACAC -3'

Sequencing Primer
(F):5'- tctttgtgacagtgcccc -3'
(R):5'- ATAAAGCATGTAATTCCCACTTCC -3'
Posted On2014-01-05