Incidental Mutation 'R7125:Hexd'
ID 552280
Institutional Source Beutler Lab
Gene Symbol Hexd
Ensembl Gene ENSMUSG00000039307
Gene Name hexosaminidase D
Synonyms Hexdc
MMRRC Submission 045327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R7125 (G1)
Quality Score 108.008
Status Validated
Chromosome 11
Chromosomal Location 121095259-121113481 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 121095496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000026169] [ENSMUST00000038831] [ENSMUST00000106117] [ENSMUST00000124768]
AlphaFold Q3U4H6
Predicted Effect probably benign
Transcript: ENSMUST00000026169
SMART Domains Protein: ENSMUSP00000026169
Gene: ENSMUSG00000025169

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
P4Hc 104 302 1.82e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038831
SMART Domains Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307

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: ENSMUST00000106117
SMART Domains Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307

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: ENSMUST00000124768
SMART Domains Protein: ENSMUSP00000122008
Gene: ENSMUSG00000039307

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 22 152 8.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151495
SMART Domains Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307

DomainStartEndE-ValueType
Pfam:Glyco_hydro_20 27 220 3.1e-12 PFAM
low complexity region 525 535 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,255,751 (GRCm39) C296S probably damaging Het
Ago3 T C 4: 126,264,145 (GRCm39) I354V probably null Het
Aldh1l1 G A 6: 90,553,761 (GRCm39) probably null Het
Ankrd49 TAA TA 9: 14,693,836 (GRCm39) probably null Het
B3gnt7 A G 1: 86,233,099 (GRCm39) Y115C probably damaging Het
Cacna1h A T 17: 25,602,510 (GRCm39) M1506K probably damaging Het
Cars1 T C 7: 143,138,510 (GRCm39) T226A probably benign Het
Ccdc28b T A 4: 129,514,885 (GRCm39) T75S probably benign Het
Cdc42bpg A G 19: 6,372,321 (GRCm39) I1436V probably damaging Het
Cep152 A T 2: 125,408,593 (GRCm39) Y1320* probably null Het
Cntnap2 A T 6: 46,965,580 (GRCm39) Y797F probably benign Het
Coq8a T A 1: 179,996,366 (GRCm39) N490I probably damaging Het
Csmd2 T C 4: 128,389,955 (GRCm39) L2230P Het
Cyp4a14 A T 4: 115,348,358 (GRCm39) I373N probably damaging Het
Ddx1 A G 12: 13,293,864 (GRCm39) S86P probably benign Het
Dennd3 A T 15: 73,405,140 (GRCm39) I298F possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah2 T C 11: 69,327,008 (GRCm39) T3533A probably damaging Het
Fam53b T C 7: 132,373,357 (GRCm39) H27R probably damaging Het
Firrm T C 1: 163,789,631 (GRCm39) T635A probably benign Het
Fyb1 G A 15: 6,674,337 (GRCm39) E658K possibly damaging Het
Gapvd1 T C 2: 34,585,612 (GRCm39) S996G probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Golgb1 T A 16: 36,738,325 (GRCm39) H2262Q possibly damaging Het
Gpam T C 19: 55,064,767 (GRCm39) T646A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Micu2 A T 14: 58,209,238 (GRCm39) Y73* probably null Het
N4bp2l2 T C 5: 150,573,894 (GRCm39) probably null Het
Or11h7 T C 14: 50,891,041 (GRCm39) C116R possibly damaging Het
Or1e31 T C 11: 73,689,990 (GRCm39) M198V probably benign Het
Or1m1 A T 9: 18,666,174 (GRCm39) Y252* probably null Het
Or51t4 T C 7: 102,598,386 (GRCm39) V238A probably damaging Het
Or5b112 A T 19: 13,319,103 (GRCm39) probably null Het
P3r3urf A G 4: 116,030,667 (GRCm39) M24V probably benign Het
Prkca A G 11: 107,874,848 (GRCm39) Y365H probably damaging Het
Ptpre C T 7: 135,255,744 (GRCm39) R155* probably null Het
Ryr2 T A 13: 11,684,873 (GRCm39) N3023Y probably damaging Het
S100a7a A G 3: 90,562,822 (GRCm39) D3G probably benign Het
Scn2a T C 2: 65,594,277 (GRCm39) F1709L probably damaging Het
Slc15a2 T C 16: 36,602,660 (GRCm39) E67G probably damaging Het
Slc25a22 A G 7: 141,011,655 (GRCm39) L195P probably damaging Het
Sp140 TTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT 1: 85,572,290 (GRCm39) probably benign Het
Stim1 T A 7: 102,084,741 (GRCm39) H564Q possibly damaging Het
Sulf2 C T 2: 165,917,448 (GRCm39) W855* probably null Het
Tenm3 T C 8: 49,127,588 (GRCm39) N30S probably benign Het
Trim59 T C 3: 68,944,197 (GRCm39) D381G probably benign Het
Ttc21b T C 2: 66,066,670 (GRCm39) T328A probably benign Het
Ttc6 C G 12: 57,623,125 (GRCm39) Q175E probably benign Het
Vmn2r44 T C 7: 8,370,941 (GRCm39) I702V probably damaging Het
Zfp768 A T 7: 126,943,959 (GRCm39) F59L probably damaging 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
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
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'- GCAATCAAGACCACGCTCTG -3'
(R):5'- AGGCTTCTCAATGCAGCTCTC -3'

Sequencing Primer
(F):5'- TAAGGATCCCGCTACCTGGTC -3'
(R):5'- CGTAGGAGACAGGTCATCCG -3'
Posted On 2019-05-15