Incidental Mutation 'R7026:Hhatl'
ID 545969
Institutional Source Beutler Lab
Gene Symbol Hhatl
Ensembl Gene ENSMUSG00000032523
Gene Name hedgehog acyltransferase-like
Synonyms Mg56, Mitsugumin 56, Gup1, 1110011D13Rik
MMRRC Submission 045127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 121613082-121621573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121617339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 298 (D298G)
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 benign
Transcript: ENSMUST00000035110
AA Change: D298G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: D298G

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 benign
Transcript: ENSMUST00000163981
AA Change: D298G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: D298G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp12 T C 15: 39,743,566 (GRCm39) H123R probably damaging Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mboat2 T C 12: 24,998,381 (GRCm39) probably null Het
Mctp1 A G 13: 76,954,378 (GRCm39) T596A probably benign Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or11h4b A G 14: 50,918,716 (GRCm39) I125T probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Slc7a10 T C 7: 34,898,139 (GRCm39) M297T probably damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Trp53bp2 T C 1: 182,270,300 (GRCm39) S367P probably benign Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F probably benign 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
R5759:Hhatl UTSW 9 121,617,343 (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
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'- GCTAGATGCAGATCTTTTGGGC -3'
(R):5'- GGCTGATTTTCATGGGTCAC -3'

Sequencing Primer
(F):5'- CAGATCTTTTGGGCATGGGCAAC -3'
(R):5'- TGGCACATACCTCCAGGGAG -3'
Posted On 2019-05-13