Incidental Mutation 'R5851:Abhd15'
ID454686
Institutional Source Beutler Lab
Gene Symbol Abhd15
Ensembl Gene ENSMUSG00000000686
Gene Nameabhydrolase domain containing 15
Synonyms
MMRRC Submission 044067-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5851 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location77515121-77538607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77518447 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 329 (L329P)
Ref Sequence ENSEMBL: ENSMUSP00000091541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094004] [ENSMUST00000100807]
Predicted Effect probably benign
Transcript: ENSMUST00000094004
AA Change: L329P

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000091541
Gene: ENSMUSG00000000686
AA Change: L329P

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 69 84 N/A INTRINSIC
low complexity region 226 239 N/A INTRINSIC
SCOP:d1din__ 319 411 8e-7 SMART
low complexity region 418 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100807
AA Change: E51G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000098370
Gene: ENSMUSG00000072673
AA Change: E51G

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136101
SMART Domains Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328

DomainStartEndE-ValueType
low complexity region 114 127 N/A INTRINSIC
low complexity region 167 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139195
Predicted Effect probably benign
Transcript: ENSMUST00000145676
Predicted Effect probably benign
Transcript: ENSMUST00000147386
SMART Domains Protein: ENSMUSP00000116682
Gene: ENSMUSG00000000686

DomainStartEndE-ValueType
low complexity region 33 47 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik A T 10: 81,364,877 probably null Het
Abca2 A G 2: 25,442,310 N1452D possibly damaging Het
Add3 T C 19: 53,236,774 S442P probably damaging Het
Arhgef18 T C 8: 3,434,980 F228L probably damaging Het
Bptf A T 11: 107,110,862 Y475N probably damaging Het
C3 T C 17: 57,211,612 N1257S probably null Het
Ccdc94 C T 17: 55,967,582 S298F probably damaging Het
Cd163l1 C T 7: 140,228,027 P704S possibly damaging Het
Cdkl1 A T 12: 69,756,564 Y179* probably null Het
Ceacam1 T C 7: 25,474,600 N210S possibly damaging Het
Celf3 T A 3: 94,479,126 I7N probably damaging Het
Cmpk1 A G 4: 114,986,970 V55A possibly damaging Het
Csrnp1 C T 9: 119,973,078 G305D possibly damaging Het
Dnah3 A G 7: 120,039,362 S1266P possibly damaging Het
Edc4 T C 8: 105,890,867 L1077P probably damaging Het
Efcab1 T A 16: 14,920,436 L155H probably damaging Het
Fam174a G A 1: 95,325,143 G157S probably damaging Het
Fubp3 T A 2: 31,598,610 D159E probably benign Het
Garem2 C T 5: 30,114,290 T250M probably damaging Het
H2-Eb1 C T 17: 34,309,771 P92L probably benign Het
Ifnl3 G T 7: 28,523,511 C69F probably damaging Het
Itga2b C A 11: 102,457,601 probably benign Het
Klhl33 A T 14: 50,892,878 D386E probably damaging Het
Lin9 T A 1: 180,669,198 L351I probably benign Het
Lor G A 3: 92,080,539 A480V unknown Het
Msh3 G T 13: 92,215,522 Q1041K probably benign Het
Myo1e G A 9: 70,383,804 G959E probably benign Het
Nfat5 G T 8: 107,347,727 V338L probably damaging Het
Nrf1 A G 6: 30,089,976 H18R possibly damaging Het
Nup160 A G 2: 90,707,038 D752G probably benign Het
Obscn A T 11: 58,994,700 L2489* probably null Het
Olfr1184 A G 2: 88,486,860 I43V possibly damaging Het
Olfr638 A G 7: 104,003,452 E59G probably benign Het
Paip1 T C 13: 119,440,765 S215P possibly damaging Het
Pate2 T A 9: 35,670,501 Y26* probably null Het
Pcdhb10 A G 18: 37,412,758 I296V probably benign Het
Pdzph1 T G 17: 58,973,746 T514P probably benign Het
Pnlip G A 19: 58,673,792 W123* probably null Het
Prmt2 C A 10: 76,236,740 C9F possibly damaging Het
Rbl1 T A 2: 157,167,325 K763N probably benign Het
Rfk C T 19: 17,395,198 A28V probably damaging Het
Sdk1 G A 5: 141,962,669 V590I probably benign Het
Sele A G 1: 164,049,574 K140E probably benign Het
Skiv2l2 G A 13: 112,908,952 R349W probably damaging Het
Sla G A 15: 66,783,723 T189I probably damaging Het
Slc46a2 A G 4: 59,913,906 V339A probably damaging Het
Slc5a9 A G 4: 111,885,600 F432L probably benign Het
Slc6a19 A G 13: 73,691,740 F141S possibly damaging Het
Tas2r123 T C 6: 132,847,308 L56S probably damaging Het
Tmem245 T C 4: 56,916,770 I53V probably benign Het
Tor2a A T 2: 32,761,607 Q278L probably benign Het
Trav6-3 A G 14: 53,430,115 M15V probably benign Het
Ttc28 G A 5: 111,235,469 probably benign Het
Ubap2 G A 4: 41,206,268 Q534* probably null Het
Zfp954 C A 7: 7,115,625 E307* probably null Het
Zscan21 A G 5: 138,126,478 K219E probably benign Het
Other mutations in Abhd15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Abhd15 APN 11 77516014 missense probably benign 0.40
IGL02958:Abhd15 APN 11 77515965 missense possibly damaging 0.94
R1466:Abhd15 UTSW 11 77515410 missense probably damaging 1.00
R1466:Abhd15 UTSW 11 77515410 missense probably damaging 1.00
R1552:Abhd15 UTSW 11 77515407 missense probably damaging 1.00
R1584:Abhd15 UTSW 11 77515410 missense probably damaging 1.00
R2035:Abhd15 UTSW 11 77515710 missense probably damaging 1.00
R2044:Abhd15 UTSW 11 77518338 missense probably benign 0.00
R3937:Abhd15 UTSW 11 77515938 missense probably benign 0.01
R5337:Abhd15 UTSW 11 77518839 critical splice donor site probably null
R6488:Abhd15 UTSW 11 77516022 missense possibly damaging 0.81
R7172:Abhd15 UTSW 11 77515296 missense probably benign 0.00
R7792:Abhd15 UTSW 11 77518734 missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- AGTAACTTTGCCTGTCATCTAACG -3'
(R):5'- AAGGACTCCAAGATGACCTCG -3'

Sequencing Primer
(F):5'- AACTTTGCCTGTCATCTAACGTTCTG -3'
(R):5'- AAGATGACCTCGTGGCTCCATG -3'
Posted On2017-02-10