Incidental Mutation 'IGL01981:Hexd'
ID 183509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hexd
Ensembl Gene ENSMUSG00000039307
Gene Name hexosaminidase D
Synonyms Hexdc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01981
Quality Score
Status
Chromosome 11
Chromosomal Location 121095259-121113481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121107819 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3U4H6
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131009
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Hexd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Hexd APN 11 121,111,986 (GRCm39) missense probably benign 0.35
R0360:Hexd UTSW 11 121,102,969 (GRCm39) missense probably benign 0.18
R0364:Hexd UTSW 11 121,102,969 (GRCm39) missense probably benign 0.18
R0376:Hexd UTSW 11 121,108,991 (GRCm39) splice site probably benign
R1148:Hexd UTSW 11 121,112,093 (GRCm39) missense probably benign 0.09
R1148:Hexd UTSW 11 121,112,093 (GRCm39) missense probably benign 0.09
R1493:Hexd UTSW 11 121,112,093 (GRCm39) missense probably benign 0.09
R1883:Hexd UTSW 11 121,098,524 (GRCm39) missense probably benign 0.00
R4021:Hexd UTSW 11 121,108,987 (GRCm39) critical splice donor site probably null
R4163:Hexd UTSW 11 121,111,975 (GRCm39) missense probably benign 0.01
R4939:Hexd UTSW 11 121,098,542 (GRCm39) missense probably benign
R5308:Hexd UTSW 11 121,113,095 (GRCm39) missense probably damaging 1.00
R5716:Hexd UTSW 11 121,112,388 (GRCm39) missense probably benign 0.03
R6127:Hexd UTSW 11 121,107,825 (GRCm39) missense possibly damaging 0.89
R6154:Hexd UTSW 11 121,112,097 (GRCm39) missense probably benign 0.02
R6921:Hexd UTSW 11 121,113,107 (GRCm39) missense probably damaging 0.98
R6928:Hexd UTSW 11 121,102,880 (GRCm39) missense possibly damaging 0.82
R6939:Hexd UTSW 11 121,113,164 (GRCm39) missense probably benign 0.09
R7125:Hexd UTSW 11 121,095,496 (GRCm39) unclassified probably benign
R7522:Hexd UTSW 11 121,108,923 (GRCm39) missense possibly damaging 0.61
R8989:Hexd UTSW 11 121,109,136 (GRCm39) intron probably benign
R9694:Hexd UTSW 11 121,107,813 (GRCm39) missense probably damaging 1.00
Z1176:Hexd UTSW 11 121,106,063 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07