Incidental Mutation 'IGL01981:Hexdc'
ID183509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hexdc
Ensembl Gene ENSMUSG00000039307
Gene Namehexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01981
Quality Score
Status
Chromosome11
Chromosomal Location121204433-121222655 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 121216993 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 183 (S183I)
Ref Sequence ENSEMBL: ENSMUSP00000101723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038831] [ENSMUST00000106117] [ENSMUST00000124768]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038831
AA Change: S183I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: S183I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 30 223 2.9e-12 PFAM
low complexity region 528 538 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106117
AA Change: S183I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: S183I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 31 229 1.7e-18 PFAM
low complexity region 455 465 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124761
AA Change: S152I
SMART Domains Protein: ENSMUSP00000116406
Gene: ENSMUSG00000039307
AA Change: S152I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 20 194 6.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124768
SMART Domains Protein: ENSMUSP00000122008
Gene: ENSMUSG00000039307

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 22 152 8.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131009
Predicted Effect unknown
Transcript: ENSMUST00000151495
AA Change: S179I
SMART Domains Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: S179I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 27 220 3.1e-12 PFAM
low complexity region 525 535 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,654 G58E probably damaging Het
Akt2 A C 7: 27,638,074 D417A probably benign Het
Ap1b1 T A 11: 5,019,336 S231T possibly damaging Het
Arhgap31 G A 16: 38,601,573 T1377I probably damaging Het
Cdkl3 A G 11: 52,005,069 T48A probably benign Het
Chd3 T C 11: 69,360,675 Y510C probably damaging Het
Chml A G 1: 175,688,185 S57P probably damaging Het
Cpxm1 G T 2: 130,394,140 C367* probably null Het
D930020B18Rik A G 10: 121,692,414 T428A probably damaging Het
Dnaja3 A T 16: 4,701,169 I325F probably damaging Het
Erbb3 A G 10: 128,571,650 V943A probably benign Het
Fam110b A G 4: 5,799,481 I300V probably benign Het
Fam193a A G 5: 34,431,193 E76G probably damaging Het
Fbxl3 G A 14: 103,095,464 T26M possibly damaging Het
Furin A G 7: 80,392,899 L380P probably damaging Het
Fxr2 A C 11: 69,650,502 I354L possibly damaging Het
Garnl3 G T 2: 32,997,729 N756K probably damaging Het
Gimap1 A G 6: 48,743,324 Y290C probably damaging Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gm5592 G A 7: 41,286,371 W99* probably null Het
Hmg20a C T 9: 56,477,230 P95S probably damaging Het
Jhy A T 9: 40,895,546 I769N probably damaging Het
Lrrd1 G T 5: 3,851,267 C524F probably damaging Het
Musk C A 4: 58,296,629 S76R probably damaging Het
Myom3 C T 4: 135,785,849 R613* probably null Het
Naa16 T A 14: 79,381,516 E172D probably benign Het
Obox6 A T 7: 15,834,921 M10K possibly damaging Het
Olfr1039 A T 2: 86,130,830 Y278N probably benign Het
Pam C T 1: 97,834,441 V700M probably damaging Het
Pkd1l2 C A 8: 117,016,916 R1978L probably benign Het
Pkhd1 T A 1: 20,523,567 T1441S possibly damaging Het
Plg A G 17: 12,403,047 probably benign Het
Pot1a A G 6: 25,750,100 L521P probably damaging Het
Pramef17 G A 4: 143,994,354 P6S probably damaging Het
Ptprj A T 2: 90,439,912 V1280E probably damaging Het
Rcbtb2 T C 14: 73,164,782 S136P possibly damaging Het
Rtl1 C T 12: 109,591,935 E1157K possibly damaging Het
Sell G A 1: 164,065,626 R137Q probably benign Het
Shisa9 A T 16: 12,244,658 M248L probably benign Het
Spag17 A G 3: 100,058,833 E1144G probably benign Het
Sphk2 G T 7: 45,710,733 Q616K probably benign Het
Tecrl T C 5: 83,294,606 T207A probably benign Het
Ubr5 T C 15: 37,996,598 T1885A probably benign Het
Usp24 T C 4: 106,375,768 probably benign Het
Usp32 A G 11: 85,036,524 M622T probably benign Het
Vangl1 A G 3: 102,184,291 F160L probably damaging Het
Vps13d T C 4: 145,086,747 S3289G probably damaging Het
Wdfy4 A G 14: 33,133,716 F647S probably damaging Het
Wdhd1 A G 14: 47,261,450 L509P probably damaging Het
Zcchc2 A G 1: 106,027,499 E640G probably damaging Het
Zfp563 T A 17: 33,105,409 I326N probably benign Het
Other mutations in Hexdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Hexdc APN 11 121221160 missense probably benign 0.35
R0360:Hexdc UTSW 11 121212143 missense probably benign 0.18
R0364:Hexdc UTSW 11 121212143 missense probably benign 0.18
R0376:Hexdc UTSW 11 121218165 splice site probably benign
R1148:Hexdc UTSW 11 121221267 missense probably benign 0.09
R1148:Hexdc UTSW 11 121221267 missense probably benign 0.09
R1493:Hexdc UTSW 11 121221267 missense probably benign 0.09
R1883:Hexdc UTSW 11 121207698 missense probably benign 0.00
R4021:Hexdc UTSW 11 121218161 critical splice donor site probably null
R4163:Hexdc UTSW 11 121221149 missense probably benign 0.01
R4939:Hexdc UTSW 11 121207716 missense probably benign
R5308:Hexdc UTSW 11 121222269 missense probably damaging 1.00
R5716:Hexdc UTSW 11 121221562 missense probably benign 0.03
R6127:Hexdc UTSW 11 121216999 missense possibly damaging 0.89
R6154:Hexdc UTSW 11 121221271 missense probably benign 0.02
R6921:Hexdc UTSW 11 121222281 missense probably damaging 0.98
R6928:Hexdc UTSW 11 121212054 missense possibly damaging 0.82
R6939:Hexdc UTSW 11 121222338 missense probably benign 0.09
R7125:Hexdc UTSW 11 121204670 unclassified probably benign
R7522:Hexdc UTSW 11 121218097 missense not run
Posted On2014-05-07