Incidental Mutation 'R5759:Hhatl'
ID 445199
Institutional Source Beutler Lab
Gene Symbol Hhatl
Ensembl Gene ENSMUSG00000032523
Gene Name hedgehog acyltransferase-like
Synonyms Mg56, Mitsugumin 56, Gup1, 1110011D13Rik
MMRRC Submission 043361-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5759 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 121613082-121621573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121617343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 297 (Y297H)
Ref Sequence ENSEMBL: ENSMUSP00000131971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035110] [ENSMUST00000098272] [ENSMUST00000163981] [ENSMUST00000214768] [ENSMUST00000215477] [ENSMUST00000215910] [ENSMUST00000217652]
AlphaFold Q9D1G3
Predicted Effect probably damaging
Transcript: ENSMUST00000035110
AA Change: Y297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: Y297H

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
Pfam:MBOAT 63 448 2.7e-15 PFAM
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098272
SMART Domains Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001

DomainStartEndE-ValueType
BTB 33 128 4.61e-29 SMART
BACK 133 239 9.46e-30 SMART
low complexity region 262 276 N/A INTRINSIC
Blast:BTB 300 355 2e-27 BLAST
Kelch 360 412 1.77e0 SMART
Kelch 413 462 1.29e-2 SMART
Kelch 463 510 4.68e-9 SMART
Kelch 511 557 2.06e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163981
AA Change: Y297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: Y297H

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Pfam:MBOAT 97 444 3.7e-16 PFAM
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214768
Predicted Effect probably benign
Transcript: ENSMUST00000215477
Predicted Effect probably benign
Transcript: ENSMUST00000215910
Predicted Effect probably benign
Transcript: ENSMUST00000217652
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,419 (GRCm39) S1203P probably benign Het
Adamts1 A G 16: 85,594,936 (GRCm39) V341A possibly damaging Het
Arf2 G A 11: 103,874,459 (GRCm39) G144S probably benign Het
Atr A G 9: 95,756,455 (GRCm39) N862D probably benign Het
Cep295nl T C 11: 118,224,472 (GRCm39) H124R possibly damaging Het
Chd6 C T 2: 160,825,682 (GRCm39) V1141I possibly damaging Het
Chst5 C A 8: 112,616,842 (GRCm39) K259N probably benign Het
Dchs1 T A 7: 105,413,383 (GRCm39) D1144V probably damaging Het
Dmxl2 T C 9: 54,282,792 (GRCm39) Y2795C probably damaging Het
Dnah7b A G 1: 46,316,280 (GRCm39) N3131S probably damaging Het
Dnah7c G A 1: 46,654,527 (GRCm39) G1436R probably damaging Het
Emp2 T A 16: 10,102,374 (GRCm39) Y146F probably damaging Het
Exoc6 C T 19: 37,562,189 (GRCm39) Q148* probably null Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fam186b T G 15: 99,177,598 (GRCm39) Y576S probably benign Het
Fras1 T C 5: 96,857,775 (GRCm39) V2023A probably benign Het
Grm5 A C 7: 87,675,808 (GRCm39) M441L probably damaging Het
Ifi30 A G 8: 71,219,188 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,040 (GRCm39) N169K possibly damaging Het
Kat6a T G 8: 23,428,028 (GRCm39) S1128A probably benign Het
Madd T C 2: 90,992,420 (GRCm39) E1041G possibly damaging Het
Mcm3 CT CTT 1: 20,878,972 (GRCm39) probably null Het
Mfsd5 G A 15: 102,189,513 (GRCm39) G295D possibly damaging Het
Minar1 A T 9: 89,483,125 (GRCm39) N757K probably benign Het
Mmp20 T A 9: 7,628,378 (GRCm39) probably null Het
Mybphl T C 3: 108,282,070 (GRCm39) V100A probably benign Het
Ndfip2 T A 14: 105,539,750 (GRCm39) probably null Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or7e175 T A 9: 20,049,228 (GRCm39) V272E probably benign Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Phf19 T G 2: 34,787,135 (GRCm39) D443A probably damaging Het
Piezo1 A G 8: 123,234,394 (GRCm39) V84A probably damaging Het
Septin9 A G 11: 117,243,094 (GRCm39) I94V probably benign Het
Slc35a1 C A 4: 34,675,032 (GRCm39) V132L probably benign Het
Sntg1 G A 1: 8,484,494 (GRCm39) S442L probably benign Het
Tcf25 A G 8: 124,108,196 (GRCm39) T84A probably benign Het
Tchhl1 C G 3: 93,378,863 (GRCm39) S522R probably damaging Het
Tmem106b A G 6: 13,075,041 (GRCm39) E76G probably damaging Het
Tnk2 C T 16: 32,499,482 (GRCm39) P932S probably benign Het
Trib1 G A 15: 59,526,350 (GRCm39) V307I probably benign Het
Trib3 A T 2: 152,185,215 (GRCm39) D11E probably benign Het
Trim34b T C 7: 103,980,640 (GRCm39) S243P possibly damaging Het
Vmn2r50 A G 7: 9,781,905 (GRCm39) I280T probably damaging Het
Zfp1010 A T 2: 176,956,765 (GRCm39) C244* probably null Het
Zfp445 G T 9: 122,682,211 (GRCm39) Q577K probably benign Het
Zfp599 T C 9: 22,160,957 (GRCm39) K403E probably damaging Het
Other mutations in Hhatl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02948:Hhatl APN 9 121,618,857 (GRCm39) missense probably benign 0.21
R0270:Hhatl UTSW 9 121,613,786 (GRCm39) missense probably benign 0.14
R0399:Hhatl UTSW 9 121,617,828 (GRCm39) missense probably benign 0.00
R0417:Hhatl UTSW 9 121,617,828 (GRCm39) missense probably benign 0.00
R0436:Hhatl UTSW 9 121,617,828 (GRCm39) missense probably benign 0.00
R1741:Hhatl UTSW 9 121,618,125 (GRCm39) missense possibly damaging 0.67
R2250:Hhatl UTSW 9 121,617,237 (GRCm39) missense possibly damaging 0.67
R2284:Hhatl UTSW 9 121,618,648 (GRCm39) missense probably damaging 1.00
R2513:Hhatl UTSW 9 121,618,236 (GRCm39) missense probably benign 0.13
R4278:Hhatl UTSW 9 121,613,285 (GRCm39) missense probably benign
R4717:Hhatl UTSW 9 121,618,943 (GRCm39) missense probably damaging 1.00
R4851:Hhatl UTSW 9 121,618,077 (GRCm39) missense probably damaging 1.00
R6330:Hhatl UTSW 9 121,617,291 (GRCm39) splice site probably null
R6387:Hhatl UTSW 9 121,619,467 (GRCm39) missense probably benign 0.09
R6460:Hhatl UTSW 9 121,618,588 (GRCm39) missense probably benign 0.32
R6541:Hhatl UTSW 9 121,614,210 (GRCm39) missense probably damaging 1.00
R6651:Hhatl UTSW 9 121,613,768 (GRCm39) missense probably damaging 1.00
R6670:Hhatl UTSW 9 121,618,137 (GRCm39) missense probably damaging 0.96
R6914:Hhatl UTSW 9 121,617,246 (GRCm39) missense probably benign
R6942:Hhatl UTSW 9 121,617,246 (GRCm39) missense probably benign
R7026:Hhatl UTSW 9 121,617,339 (GRCm39) missense probably benign 0.26
R7251:Hhatl UTSW 9 121,614,116 (GRCm39) critical splice donor site probably null
R7323:Hhatl UTSW 9 121,618,652 (GRCm39) missense probably benign
R7958:Hhatl UTSW 9 121,613,652 (GRCm39) critical splice donor site probably null
R8365:Hhatl UTSW 9 121,618,931 (GRCm39) missense probably damaging 1.00
R8425:Hhatl UTSW 9 121,618,168 (GRCm39) missense probably benign 0.30
R8771:Hhatl UTSW 9 121,617,776 (GRCm39) missense possibly damaging 0.78
R8797:Hhatl UTSW 9 121,619,965 (GRCm39) intron probably benign
R9339:Hhatl UTSW 9 121,618,862 (GRCm39) missense probably benign 0.01
R9370:Hhatl UTSW 9 121,617,836 (GRCm39) missense possibly damaging 0.52
R9546:Hhatl UTSW 9 121,618,649 (GRCm39) missense probably damaging 1.00
R9547:Hhatl UTSW 9 121,618,649 (GRCm39) missense probably damaging 1.00
R9570:Hhatl UTSW 9 121,613,282 (GRCm39) missense possibly damaging 0.66
R9617:Hhatl UTSW 9 121,618,191 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GATCTTTTGGGCATGGGCAAC -3'
(R):5'- GGCTGATTTTCATGGGTCAC -3'

Sequencing Primer
(F):5'- GCATGGGCAACGAAGCTAAG -3'
(R):5'- TGGCACATACCTCCAGGGAG -3'
Posted On 2016-11-21