Incidental Mutation 'R1148:Hexd'
ID 165215
Institutional Source Beutler Lab
Gene Symbol Hexd
Ensembl Gene ENSMUSG00000039307
Gene Name hexosaminidase D
Synonyms Hexdc
MMRRC Submission 039221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1148 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 121095259-121113481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121112093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 438 (I438V)
Ref Sequence ENSEMBL: ENSMUSP00000048479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038709] [ENSMUST00000038831] [ENSMUST00000106115] [ENSMUST00000106117] [ENSMUST00000137299] [ENSMUST00000147490] [ENSMUST00000169393]
AlphaFold Q3U4H6
Predicted Effect probably benign
Transcript: ENSMUST00000038709
SMART Domains Protein: ENSMUSP00000042277
Gene: ENSMUSG00000039294

DomainStartEndE-ValueType
Pfam:DUF4564 1 187 1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038831
AA Change: I438V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: I438V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 30 223 2.9e-12 PFAM
low complexity region 528 538 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106115
SMART Domains Protein: ENSMUSP00000101721
Gene: ENSMUSG00000039294

DomainStartEndE-ValueType
Pfam:DUF4564 2 184 3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106117
AA Change: I365V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: I365V

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

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 20 194 6.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124925
Predicted Effect unknown
Transcript: ENSMUST00000151495
AA Change: I434V
SMART Domains Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: I434V

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: ENSMUST00000128913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133535
Predicted Effect probably benign
Transcript: ENSMUST00000137299
SMART Domains Protein: ENSMUSP00000120541
Gene: ENSMUSG00000039294

DomainStartEndE-ValueType
Pfam:DUF4564 1 150 9.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147490
SMART Domains Protein: ENSMUSP00000117829
Gene: ENSMUSG00000039294

DomainStartEndE-ValueType
Pfam:DUF4564 1 132 7.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169393
SMART Domains Protein: ENSMUSP00000127260
Gene: ENSMUSG00000039294

DomainStartEndE-ValueType
Pfam:DUF4564 1 51 6.9e-20 PFAM
low complexity region 67 78 N/A INTRINSIC
Meta Mutation Damage Score 0.0882 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
AC149051.1 A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Alg10b T C 15: 90,112,068 (GRCm39) F304S possibly damaging Het
Ank3 C T 10: 69,718,369 (GRCm39) S540F probably damaging Het
Arhgef16 T C 4: 154,365,346 (GRCm39) N590D probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bbs9 T C 9: 22,486,396 (GRCm39) probably benign Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Cilp T A 9: 65,187,598 (GRCm39) L1231Q possibly damaging Het
Coq8a G A 1: 179,996,968 (GRCm39) probably benign Het
Cyp4x1 A G 4: 114,983,752 (GRCm39) probably benign Het
Dars1 T C 1: 128,294,646 (GRCm39) probably benign Het
Disp2 G A 2: 118,636,899 (GRCm39) probably null Het
Dnah5 T C 15: 28,421,836 (GRCm39) L3896P probably damaging Het
Dpp8 T C 9: 64,961,114 (GRCm39) probably null Het
Esp4 A C 17: 40,913,262 (GRCm39) N43T probably benign Het
Fat3 T C 9: 15,908,070 (GRCm39) D2644G probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Homo
Lonp2 A G 8: 87,363,168 (GRCm39) E262G probably benign Het
Ly6h G T 15: 75,437,021 (GRCm39) S118R unknown Het
Mapk12 T C 15: 89,018,826 (GRCm39) Y203C probably damaging Het
Mapk15 A G 15: 75,870,004 (GRCm39) T375A probably benign Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or5g9 C A 2: 85,552,620 (GRCm39) Y290* probably null Het
Osbpl11 T C 16: 33,047,582 (GRCm39) F515S probably damaging Het
Pcdh15 T C 10: 74,006,392 (GRCm39) V90A probably damaging Het
Ptpn4 T A 1: 119,603,439 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,612,270 (GRCm39) D41G probably damaging Het
Rbm4b A G 19: 4,807,527 (GRCm39) H81R probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sh3d19 A G 3: 86,014,634 (GRCm39) D475G possibly damaging Het
Shprh T C 10: 11,089,226 (GRCm39) S1655P possibly damaging Het
Slc25a12 G A 2: 71,142,912 (GRCm39) probably benign Het
Strc A G 2: 121,202,558 (GRCm39) probably benign Het
Trp53rka C A 2: 165,334,961 (GRCm39) probably benign Het
Ttc22 G A 4: 106,480,228 (GRCm39) V161M probably damaging Het
Unc79 T C 12: 103,078,926 (GRCm39) L1504P probably damaging Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Wnk1 A G 6: 119,928,967 (GRCm39) probably benign Het
Wsb2 T C 5: 117,508,742 (GRCm39) probably benign Het
Other mutations in Hexd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Hexd APN 11 121,111,986 (GRCm39) missense probably benign 0.35
IGL01981:Hexd APN 11 121,107,819 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- TGCCCATAGCACTCAAAGGTCAGG -3'
(R):5'- GCAAATCCAGACAGTGTCAGTGGAG -3'

Sequencing Primer
(F):5'- ctctctgagcacttctgcc -3'
(R):5'- CAGTGTCAGTGGAGCCAGTG -3'
Posted On 2014-03-28