Incidental Mutation 'R8425:Hhatl'
ID 653421
Institutional Source Beutler Lab
Gene Symbol Hhatl
Ensembl Gene ENSMUSG00000032523
Gene Name hedgehog acyltransferase-like
Synonyms Mg56, Mitsugumin 56, Gup1, 1110011D13Rik
MMRRC Submission 067819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8425 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 121613082-121621573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121618168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 196 (A196S)
Ref Sequence ENSEMBL: ENSMUSP00000035110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035110] [ENSMUST00000163981] [ENSMUST00000214768] [ENSMUST00000215477] [ENSMUST00000215910] [ENSMUST00000217652]
AlphaFold Q9D1G3
Predicted Effect probably benign
Transcript: ENSMUST00000035110
AA Change: A196S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: A196S

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: ENSMUST00000163981
AA Change: A196S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: A196S

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,324,745 (GRCm39) E92G possibly damaging Het
Aasdh A T 5: 77,034,124 (GRCm39) Y476N possibly damaging Het
Abca13 G T 11: 9,264,623 (GRCm39) V3002F possibly damaging Het
Adam23 C T 1: 63,624,536 (GRCm39) T788I probably damaging Het
Adgrb2 A G 4: 129,898,850 (GRCm39) T282A possibly damaging Het
Adgrg1 T C 8: 95,735,035 (GRCm39) Y402H probably damaging Het
Agpat2 A T 2: 26,483,666 (GRCm39) L257Q probably benign Het
Agpat3 A T 10: 78,118,211 (GRCm39) V255E possibly damaging Het
Akap6 A G 12: 52,933,404 (GRCm39) I299V probably benign Het
Anapc1 A T 2: 128,511,788 (GRCm39) F468L probably damaging Het
Apob T A 12: 8,038,842 (GRCm39) N431K possibly damaging Het
Asprv1 T A 6: 86,605,851 (GRCm39) D232E probably benign Het
AW209491 A G 13: 14,811,921 (GRCm39) Y258C probably damaging Het
Bach2 C T 4: 32,562,316 (GRCm39) P261L probably benign Het
Cap2 T A 13: 46,763,208 (GRCm39) I146K probably damaging Het
Catsperb A T 12: 101,569,028 (GRCm39) Q900L probably benign Het
Ccdc187 A T 2: 26,171,548 (GRCm39) V310D probably damaging Het
Cenpe G T 3: 134,948,388 (GRCm39) G1275* probably null Het
Chd8 C T 14: 52,448,012 (GRCm39) G1663D probably damaging Het
Col6a5 T A 9: 105,823,156 (GRCm39) Y67F unknown Het
Cuzd1 G T 7: 130,919,720 (GRCm39) T132K possibly damaging Het
Ddr2 T A 1: 169,863,585 (GRCm39) probably benign Het
Ddx42 T C 11: 106,138,550 (GRCm39) I783T probably benign Het
Dennd4a T A 9: 64,746,256 (GRCm39) D47E probably damaging Het
Dvl2 T G 11: 69,898,673 (GRCm39) W379G probably damaging Het
Ehbp1 A G 11: 21,963,495 (GRCm39) L1160P probably damaging Het
Eml6 A G 11: 29,705,008 (GRCm39) V1512A probably benign Het
Ephb6 T C 6: 41,595,580 (GRCm39) S780P probably damaging Het
Exo5 G A 4: 120,779,560 (GRCm39) L102F probably benign Het
Fam220a A T 5: 143,548,594 (GRCm39) K2M possibly damaging Het
Fanci A T 7: 79,083,289 (GRCm39) I731L probably benign Het
Gbp8 A G 5: 105,165,640 (GRCm39) S338P probably damaging Het
H2-M11 T C 17: 36,859,649 (GRCm39) I214T probably benign Het
Hspg2 C A 4: 137,278,178 (GRCm39) C2988* probably null Het
Ifi213 A G 1: 173,417,426 (GRCm39) S329P probably benign Het
Lingo3 G T 10: 80,670,816 (GRCm39) F371L probably benign Het
Maml2 C T 9: 13,531,413 (GRCm39) T209I Het
Ndufaf3 T C 9: 108,444,182 (GRCm39) probably benign Het
Nfatc2 C T 2: 168,378,216 (GRCm39) G483E probably damaging Het
Npy6r A C 18: 44,409,070 (GRCm39) T164P probably benign Het
Omg T C 11: 79,392,826 (GRCm39) E344G possibly damaging Het
Or2g25 T A 17: 37,970,975 (GRCm39) N83I probably damaging Het
Or2h15 T C 17: 38,441,927 (GRCm39) D52G possibly damaging Het
Or4c116 T A 2: 88,942,737 (GRCm39) N40Y probably damaging Het
Or52n20 A G 7: 104,320,502 (GRCm39) N198D probably damaging Het
Or5k1 A G 16: 58,617,966 (GRCm39) M81T probably benign Het
Or9i1 T C 19: 13,839,849 (GRCm39) S231P probably benign Het
P2rx7 A G 5: 122,808,521 (GRCm39) E301G probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkhd1l1 T C 15: 44,437,911 (GRCm39) S3569P probably benign Het
Pkn3 G A 2: 29,976,513 (GRCm39) probably null Het
Proc C T 18: 32,256,411 (GRCm39) V419M probably damaging Het
Prss37 C T 6: 40,493,052 (GRCm39) W138* probably null Het
Prss52 T A 14: 64,350,009 (GRCm39) L212* probably null Het
Rnps1 A G 17: 24,637,143 (GRCm39) K8E unknown Het
Rpf2 A T 10: 40,101,429 (GRCm39) L202* probably null Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Serpinb5 T A 1: 106,809,515 (GRCm39) M307K possibly damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
Slc49a4 A T 16: 35,555,967 (GRCm39) N164K probably benign Het
Slfn8 T A 11: 82,895,441 (GRCm39) Q455L possibly damaging Het
Sv2b A G 7: 74,767,347 (GRCm39) M683T probably damaging Het
Tacc3 G T 5: 33,821,874 (GRCm39) L211F unknown Het
Tbc1d8 A G 1: 39,420,490 (GRCm39) V681A probably damaging Het
Tbkbp1 T C 11: 97,029,677 (GRCm39) E493G unknown Het
Th A T 7: 142,447,823 (GRCm39) V420E possibly damaging Het
Tmem132c T G 5: 127,641,421 (GRCm39) V115G Het
Usp40 G A 1: 87,887,558 (GRCm39) R915C probably benign Het
Wdr81 T A 11: 75,342,348 (GRCm39) H973L possibly damaging Het
Zdhhc6 A G 19: 55,302,876 (GRCm39) S42P probably benign Het
Zfp369 T A 13: 65,444,489 (GRCm39) I544N possibly 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
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
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
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'- TGGGCCTGAATGTGCCATAG -3'
(R):5'- TCCTATGGGAAGCTGGGAAG -3'

Sequencing Primer
(F):5'- TGAATGTGCCATAGCTCGC -3'
(R):5'- AAGGGGCTTTCCTCAGAAGCAC -3'
Posted On 2020-10-20