Incidental Mutation 'R7079:Hhat'
ID 549401
Institutional Source Beutler Lab
Gene Symbol Hhat
Ensembl Gene ENSMUSG00000037375
Gene Name hedgehog acyltransferase
Synonyms Skn, 2810432O22Rik
MMRRC Submission 045173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7079 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 192195133-192453546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 192235354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 434 (H434R)
Ref Sequence ENSEMBL: ENSMUSP00000120479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044190] [ENSMUST00000128619] [ENSMUST00000192585]
AlphaFold Q8BMT9
Predicted Effect probably damaging
Transcript: ENSMUST00000044190
AA Change: H434R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375
AA Change: H434R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 31 43 N/A INTRINSIC
transmembrane domain 71 88 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
Pfam:MBOAT 125 448 5.7e-51 PFAM
transmembrane domain 466 488 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128619
AA Change: H434R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
AA Change: H434R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 31 43 N/A INTRINSIC
transmembrane domain 71 88 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
Pfam:MBOAT 125 448 3.1e-60 PFAM
transmembrane domain 475 497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192585
AA Change: H434R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375
AA Change: H434R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 31 43 N/A INTRINSIC
transmembrane domain 71 88 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
Pfam:MBOAT 125 448 2.4e-51 PFAM
transmembrane domain 475 497 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
PHENOTYPE: Homozygous null mice display neonatal lethality, holoprosencephaly, short-limb dwarfism, and oligodactyly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,402,323 (GRCm39) L405S possibly damaging Het
2310009B15Rik T A 1: 138,779,865 (GRCm39) Q129L possibly damaging Het
4921509C19Rik T G 2: 151,315,198 (GRCm39) D160A probably damaging Het
Aspn A G 13: 49,720,031 (GRCm39) Y349C probably damaging Het
Atp2b1 A G 10: 98,854,595 (GRCm39) T1063A probably benign Het
BC035947 T C 1: 78,474,552 (GRCm39) E660G probably damaging Het
Cadps2 A G 6: 23,323,408 (GRCm39) L970P probably damaging Het
Caskin1 T C 17: 24,717,858 (GRCm39) I215T probably benign Het
Cort C G 4: 149,211,848 (GRCm39) G85R probably benign Het
Cyp1a2 T C 9: 57,589,161 (GRCm39) I218V probably benign Het
Egfem1 T A 3: 29,207,731 (GRCm39) H140Q probably benign Het
Elapor2 A G 5: 9,449,253 (GRCm39) Y127C probably damaging Het
Fbln5 G A 12: 101,723,667 (GRCm39) P345S probably damaging Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Gfpt2 G A 11: 49,728,578 (GRCm39) V679I possibly damaging Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Grm1 T C 10: 10,955,702 (GRCm39) D194G probably damaging Het
Hectd1 G A 12: 51,834,638 (GRCm39) T875M possibly damaging Het
Hey2 T A 10: 30,710,382 (GRCm39) I124F probably benign Het
Itpripl2 A G 7: 118,090,092 (GRCm39) F156L possibly damaging Het
Kctd11 A G 11: 69,770,847 (GRCm39) Y64H probably damaging Het
Lmln T C 16: 32,887,661 (GRCm39) L97P probably benign Het
Lrrc30 T C 17: 67,939,016 (GRCm39) D188G possibly damaging Het
Mmd T A 11: 90,158,325 (GRCm39) probably null Het
Nav3 G A 10: 109,603,153 (GRCm39) S1132L probably benign Het
Or1l4 C A 2: 37,092,185 (GRCm39) H311N probably benign Het
Or4c101 C A 2: 88,389,853 (GRCm39) N2K probably damaging Het
Or52ab7 C T 7: 102,978,391 (GRCm39) R233C probably benign Het
Pcdh15 A G 10: 74,152,957 (GRCm39) T421A probably benign Het
Pfkm G A 15: 97,992,963 (GRCm39) R7H probably benign Het
Psme2b A G 11: 48,836,443 (GRCm39) F168S probably damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn13 T C 5: 103,649,752 (GRCm39) V385A probably benign Het
Reep5 G A 18: 34,480,176 (GRCm39) T189I probably damaging Het
Sacm1l T A 9: 123,399,062 (GRCm39) Y272N probably damaging Het
Slc26a6 T A 9: 108,735,147 (GRCm39) H348Q probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,453,729 (GRCm39) probably benign Het
Spata31f1a T C 4: 42,851,718 (GRCm39) E146G probably benign Het
Stkld1 A G 2: 26,839,359 (GRCm39) I342V probably benign Het
Trim23 A T 13: 104,323,801 (GRCm39) probably null Het
Trmt13 T C 3: 116,376,480 (GRCm39) T304A probably benign Het
Tyw3 G C 3: 154,299,426 (GRCm39) S94R probably benign Het
Ubqln3 A T 7: 103,790,578 (GRCm39) I504K probably benign Het
Uhrf2 T G 19: 30,060,190 (GRCm39) N519K probably null Het
Wdr93 T C 7: 79,399,040 (GRCm39) M58T probably damaging Het
Wwc2 G A 8: 48,300,580 (GRCm39) T961M unknown Het
Zfp35 C T 18: 24,136,357 (GRCm39) H234Y possibly damaging Het
Zscan21 C T 5: 138,124,728 (GRCm39) P215S probably benign Het
Other mutations in Hhat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Hhat APN 1 192,399,325 (GRCm39) missense probably damaging 1.00
IGL02578:Hhat APN 1 192,376,221 (GRCm39) missense probably damaging 0.98
R0420:Hhat UTSW 1 192,235,242 (GRCm39) splice site probably null
R0842:Hhat UTSW 1 192,408,639 (GRCm39) missense probably benign 0.07
R1794:Hhat UTSW 1 192,376,214 (GRCm39) nonsense probably null
R1978:Hhat UTSW 1 192,399,415 (GRCm39) missense probably benign 0.03
R2073:Hhat UTSW 1 192,409,687 (GRCm39) missense possibly damaging 0.94
R2571:Hhat UTSW 1 192,235,330 (GRCm39) missense probably damaging 1.00
R2891:Hhat UTSW 1 192,277,394 (GRCm39) missense probably damaging 1.00
R4685:Hhat UTSW 1 192,277,362 (GRCm39) missense probably damaging 1.00
R4781:Hhat UTSW 1 192,369,287 (GRCm39) intron probably benign
R4988:Hhat UTSW 1 192,339,602 (GRCm39) intron probably benign
R5002:Hhat UTSW 1 192,225,498 (GRCm39) missense probably benign 0.23
R5018:Hhat UTSW 1 192,277,346 (GRCm39) missense probably damaging 1.00
R5023:Hhat UTSW 1 192,409,647 (GRCm39) missense probably damaging 1.00
R5695:Hhat UTSW 1 192,399,327 (GRCm39) missense probably damaging 0.99
R6151:Hhat UTSW 1 192,442,065 (GRCm39) missense probably damaging 1.00
R6239:Hhat UTSW 1 192,277,395 (GRCm39) missense probably damaging 1.00
R7007:Hhat UTSW 1 192,376,134 (GRCm39) missense possibly damaging 0.51
R7534:Hhat UTSW 1 192,408,612 (GRCm39) missense probably damaging 1.00
R8783:Hhat UTSW 1 192,196,245 (GRCm39) missense probably damaging 1.00
R8915:Hhat UTSW 1 192,277,203 (GRCm39) missense probably benign 0.17
R8975:Hhat UTSW 1 192,431,250 (GRCm39) missense probably damaging 1.00
Z1177:Hhat UTSW 1 192,343,800 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CAAGTCAATAATAACATCTGCATCCTA -3'
(R):5'- GCCACAGGAGGATGTCGT -3'

Sequencing Primer
(F):5'- CTGCATCCTAAGGAGATCATATGGC -3'
(R):5'- GCAGAGCTGAGAGTTCTACATCTTC -3'
Posted On 2019-05-15