Incidental Mutation 'R7068:Glb1l'
ID 548661
Institutional Source Beutler Lab
Gene Symbol Glb1l
Ensembl Gene ENSMUSG00000026200
Gene Name galactosidase, beta 1-like
Synonyms 4833408P15Rik
MMRRC Submission 045164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R7068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 75174880-75187457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75179381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 183 (Y183H)
Ref Sequence ENSEMBL: ENSMUSP00000140820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113623] [ENSMUST00000145459] [ENSMUST00000152233] [ENSMUST00000155716] [ENSMUST00000185448]
AlphaFold Q8VC60
Predicted Effect probably damaging
Transcript: ENSMUST00000113623
AA Change: Y183H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: Y183H

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 351 4.1e-123 PFAM
Pfam:Glyco_hydro_42 48 209 6.6e-12 PFAM
low complexity region 355 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145459
SMART Domains Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
Blast:ZnF_C2H2 96 120 1e-9 BLAST
low complexity region 143 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152233
SMART Domains Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
Blast:ZnF_C2H2 96 120 6e-11 BLAST
low complexity region 143 171 N/A INTRINSIC
low complexity region 394 407 N/A INTRINSIC
low complexity region 425 451 N/A INTRINSIC
low complexity region 459 469 N/A INTRINSIC
Blast:ANK 515 545 2e-9 BLAST
ANK 556 585 6.81e-3 SMART
coiled coil region 628 681 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155716
AA Change: Y183H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: Y183H

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 351 4.2e-125 PFAM
Pfam:Glyco_hydro_42 48 209 6.6e-12 PFAM
low complexity region 355 371 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185448
AA Change: Y183H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
AA Change: Y183H

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 188 1.6e-71 PFAM
Pfam:Glyco_hydro_42 48 188 6.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186173
Predicted Effect probably benign
Transcript: ENSMUST00000189663
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,221,803 (GRCm39) H24R probably benign Het
Ago2 A T 15: 73,018,299 (GRCm39) F46L probably damaging Het
Amd1 A G 10: 40,166,508 (GRCm39) F123L probably benign Het
Arhgef10 T C 8: 15,008,639 (GRCm39) F546L probably damaging Het
Asic2 G A 11: 81,043,081 (GRCm39) H71Y probably benign Het
Asphd1 A G 7: 126,547,850 (GRCm39) V151A probably benign Het
Best3 T C 10: 116,824,543 (GRCm39) V3A probably damaging Het
C4b A G 17: 34,952,451 (GRCm39) L1196P probably damaging Het
Cd22 A G 7: 30,577,504 (GRCm39) V3A probably benign Het
Cdkl3 T C 11: 51,902,154 (GRCm39) probably null Het
Clcnka A T 4: 141,114,421 (GRCm39) V631E probably damaging Het
Cmya5 A G 13: 93,229,205 (GRCm39) V1961A possibly damaging Het
Dnah14 A G 1: 181,597,355 (GRCm39) E3559G probably benign Het
Emsy A T 7: 98,259,968 (GRCm39) D39E probably benign Het
Fbxl16 G T 17: 26,038,485 (GRCm39) V477F possibly damaging Het
Flt1 A T 5: 147,610,444 (GRCm39) I393N probably damaging Het
Gabra4 A T 5: 71,729,402 (GRCm39) N433K probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Ghsr T A 3: 27,425,986 (GRCm39) V14D probably benign Het
Hycc1 A G 5: 24,169,793 (GRCm39) S519P possibly damaging Het
Ighv3-4 T C 12: 114,217,274 (GRCm39) T106A probably damaging Het
Ik T G 18: 36,888,518 (GRCm39) F439V possibly damaging Het
Itih5 T C 2: 10,254,115 (GRCm39) S789P probably damaging Het
Kcnj8 T C 6: 142,511,965 (GRCm39) D214G probably damaging Het
Kdm5a C A 6: 120,407,176 (GRCm39) H1464N probably benign Het
Klb A T 5: 65,536,683 (GRCm39) Y671F probably damaging Het
Kremen2 C A 17: 23,960,859 (GRCm39) R421L possibly damaging Het
Mroh9 T A 1: 162,866,750 (GRCm39) D662V probably damaging Het
Mtmr12 T G 15: 12,257,756 (GRCm39) M278R probably null Het
Ndufa8 T C 2: 35,934,447 (GRCm39) M44V possibly damaging Het
Nedd4l A T 18: 65,338,722 (GRCm39) R695S probably damaging Het
Nuf2 G A 1: 169,349,988 (GRCm39) P97S probably damaging Het
Or14c46 A C 7: 85,918,745 (GRCm39) L84R probably damaging Het
Or2ah1 T C 2: 85,653,396 (GRCm39) V27A probably benign Het
Or5ac24 T C 16: 59,165,567 (GRCm39) T166A possibly damaging Het
P4ha2 A G 11: 54,001,820 (GRCm39) T33A probably benign Het
Parp1 A G 1: 180,416,233 (GRCm39) H544R probably damaging Het
Plec A G 15: 76,061,969 (GRCm39) L2678P probably damaging Het
Rad1 T A 15: 10,490,379 (GRCm39) Y85* probably null Het
Sema6d A G 2: 124,499,741 (GRCm39) I309V probably benign Het
Skint2 T C 4: 112,481,548 (GRCm39) V137A probably damaging Het
Slc23a3 T C 1: 75,109,877 (GRCm39) N130S probably benign Het
Slc35f1 T C 10: 52,938,596 (GRCm39) F176S probably damaging Het
Slc44a2 T A 9: 21,232,144 (GRCm39) Y10N probably benign Het
Smarcc1 A G 9: 110,014,952 (GRCm39) T506A probably damaging Het
Smchd1 A T 17: 71,694,087 (GRCm39) S1219R probably benign Het
Smco1 A G 16: 32,092,929 (GRCm39) N200S probably benign Het
Srcap A G 7: 127,141,115 (GRCm39) T1571A probably benign Het
Strip2 C T 6: 29,932,207 (GRCm39) T459I probably benign Het
Tarbp1 C T 8: 127,153,773 (GRCm39) A1560T probably damaging Het
Tcl1b1 T A 12: 105,125,952 (GRCm39) probably benign Het
Tdrd5 T C 1: 156,111,841 (GRCm39) E436G probably damaging Het
Trim31 T A 17: 37,209,408 (GRCm39) C55S probably damaging Het
Tsr1 G T 11: 74,794,745 (GRCm39) E467* probably null Het
Tulp4 T A 17: 6,235,564 (GRCm39) D178E probably damaging Het
Vmn1r30 A G 6: 58,411,995 (GRCm39) V279A possibly damaging Het
Vmn2r98 A G 17: 19,285,575 (GRCm39) R132G probably benign Het
Other mutations in Glb1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Glb1l APN 1 75,177,882 (GRCm39) missense probably damaging 0.99
IGL01477:Glb1l APN 1 75,185,350 (GRCm39) missense probably damaging 1.00
R0408:Glb1l UTSW 1 75,185,479 (GRCm39) missense probably damaging 1.00
R0620:Glb1l UTSW 1 75,176,364 (GRCm39) missense probably damaging 1.00
R1639:Glb1l UTSW 1 75,176,245 (GRCm39) missense probably benign 0.16
R1842:Glb1l UTSW 1 75,177,104 (GRCm39) missense probably damaging 0.96
R2508:Glb1l UTSW 1 75,178,473 (GRCm39) missense probably damaging 0.99
R2920:Glb1l UTSW 1 75,185,834 (GRCm39) missense probably benign
R3439:Glb1l UTSW 1 75,179,264 (GRCm39) missense probably damaging 1.00
R4096:Glb1l UTSW 1 75,186,084 (GRCm39) start codon destroyed probably benign 0.01
R4517:Glb1l UTSW 1 75,185,347 (GRCm39) missense probably damaging 1.00
R4829:Glb1l UTSW 1 75,176,994 (GRCm39) missense probably damaging 0.96
R4851:Glb1l UTSW 1 75,185,528 (GRCm39) unclassified probably benign
R4859:Glb1l UTSW 1 75,176,963 (GRCm39) splice site probably benign
R4951:Glb1l UTSW 1 75,185,019 (GRCm39) missense probably damaging 1.00
R6163:Glb1l UTSW 1 75,178,051 (GRCm39) missense probably benign
R6519:Glb1l UTSW 1 75,177,700 (GRCm39) missense probably benign 0.41
R6693:Glb1l UTSW 1 75,185,745 (GRCm39) missense probably damaging 1.00
R6713:Glb1l UTSW 1 75,179,061 (GRCm39) missense probably benign 0.02
R6833:Glb1l UTSW 1 75,178,397 (GRCm39) missense possibly damaging 0.93
R6834:Glb1l UTSW 1 75,178,397 (GRCm39) missense possibly damaging 0.93
R7453:Glb1l UTSW 1 75,179,350 (GRCm39) missense probably damaging 1.00
R7694:Glb1l UTSW 1 75,178,436 (GRCm39) missense probably damaging 1.00
R8784:Glb1l UTSW 1 75,176,975 (GRCm39) missense probably damaging 1.00
R9408:Glb1l UTSW 1 75,177,683 (GRCm39) missense probably damaging 1.00
R9538:Glb1l UTSW 1 75,178,096 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGTCCCAGACTTCACAC -3'
(R):5'- TCCTTGAAGCTGTGGACTCC -3'

Sequencing Primer
(F):5'- CAACCCTTGTTTAAGAGACCTGGG -3'
(R):5'- AAGCTGTGGACTCCTGGTTCAAG -3'
Posted On 2019-05-13