Incidental Mutation 'R1639:Glb1l'
ID 173349
Institutional Source Beutler Lab
Gene Symbol Glb1l
Ensembl Gene ENSMUSG00000026200
Gene Name galactosidase, beta 1-like
Synonyms 4833408P15Rik
MMRRC Submission 039675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R1639 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75174880-75187457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75176245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 612 (Q612K)
Ref Sequence ENSEMBL: ENSMUSP00000136285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113623] [ENSMUST00000127625] [ENSMUST00000155716] [ENSMUST00000145459] [ENSMUST00000152233] [ENSMUST00000185448]
AlphaFold Q8VC60
Predicted Effect probably benign
Transcript: ENSMUST00000113623
AA Change: Q612K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: Q612K

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: ENSMUST00000127625
SMART Domains Protein: ENSMUSP00000137179
Gene: ENSMUSG00000026199

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
Blast:ZnF_C2H2 96 120 1e-10 BLAST
low complexity region 143 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134233
Predicted Effect probably benign
Transcript: ENSMUST00000155716
AA Change: Q612K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: Q612K

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 unknown
Transcript: ENSMUST00000186173
AA Change: Q516K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185449
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 benign
Transcript: ENSMUST00000185448
SMART Domains Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200

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: ENSMUST00000189663
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 96% (66/69)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,398,828 (GRCm39) T425N probably benign Het
Adam18 T A 8: 25,142,168 (GRCm39) I203L probably benign Het
Amigo2 A G 15: 97,143,879 (GRCm39) M181T probably benign Het
Anks1 T A 17: 28,277,280 (GRCm39) I1045N probably damaging Het
Ap3d1 C T 10: 80,565,844 (GRCm39) V108I probably damaging Het
Arl8a C T 1: 135,080,561 (GRCm39) R57* probably null Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Brpf3 T C 17: 29,043,042 (GRCm39) probably null Het
C2 T C 17: 35,091,379 (GRCm39) K95E probably benign Het
Cdk19 T C 10: 40,352,965 (GRCm39) probably null Het
Cebpz T A 17: 79,242,035 (GRCm39) I540L possibly damaging Het
Cep128 A G 12: 91,333,142 (GRCm39) V41A probably damaging Het
Cog7 T C 7: 121,580,642 (GRCm39) E56G probably damaging Het
Cylc2 T C 4: 51,228,310 (GRCm39) V127A probably benign Het
Cyp2b23 A G 7: 26,385,842 (GRCm39) V5A possibly damaging Het
Cyp8b1 A G 9: 121,743,956 (GRCm39) Y459H probably benign Het
Dbpht2 A G 12: 74,345,932 (GRCm39) noncoding transcript Het
Ddx24 T C 12: 103,377,578 (GRCm39) probably null Het
Dgki C T 6: 36,914,299 (GRCm39) C757Y probably damaging Het
Eef2k T A 7: 120,485,051 (GRCm39) L306H probably damaging Het
Ephb2 T C 4: 136,421,216 (GRCm39) N378S probably benign Het
Espl1 C T 15: 102,229,149 (GRCm39) T1767I probably damaging Het
Fbn2 C A 18: 58,191,534 (GRCm39) A1530S probably benign Het
Fndc11 A G 2: 180,863,374 (GRCm39) S60G possibly damaging Het
Gpsm1 A G 2: 26,235,199 (GRCm39) E371G probably damaging Het
Gtpbp2 G A 17: 46,476,697 (GRCm39) probably null Het
Itch A G 2: 155,020,945 (GRCm39) probably null Het
Itga2 T C 13: 114,993,832 (GRCm39) T774A probably benign Het
Kit A G 5: 75,813,467 (GRCm39) I881V probably damaging Het
Lpar5 T C 6: 125,058,564 (GRCm39) L95P probably damaging Het
Lrp6 T C 6: 134,430,529 (GRCm39) T1511A possibly damaging Het
Mgat4c T C 10: 102,214,142 (GRCm39) Y42H probably damaging Het
Mpp3 G T 11: 101,914,268 (GRCm39) T109K probably damaging Het
Msantd4 A G 9: 4,385,199 (GRCm39) E308G probably damaging Het
Mug1 T C 6: 121,857,530 (GRCm39) S1085P probably damaging Het
Myo5b A G 18: 74,840,987 (GRCm39) H956R probably benign Het
Ncoa7 A C 10: 30,577,988 (GRCm39) L132R probably damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Or4a81 T C 2: 89,619,589 (GRCm39) T36A probably damaging Het
Pkhd1l1 G A 15: 44,404,351 (GRCm39) V2327M probably damaging Het
Ppp1r9b T C 11: 94,887,436 (GRCm39) Y59H probably damaging Het
Sema4c A T 1: 36,592,615 (GRCm39) F152I probably benign Het
Slit2 A T 5: 48,416,996 (GRCm39) Y1016F probably damaging Het
Spata31d1c T A 13: 65,183,853 (GRCm39) V465D probably benign Het
Ssc5d T C 7: 4,931,416 (GRCm39) C208R probably damaging Het
Stambpl1 T G 19: 34,213,707 (GRCm39) V312G probably benign Het
Stim1 T A 7: 102,003,748 (GRCm39) D60E probably benign Het
Syt13 T A 2: 92,776,316 (GRCm39) V201D probably benign Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tex15 T C 8: 34,060,845 (GRCm39) S366P possibly damaging Het
Tex56 T C 13: 35,128,233 (GRCm39) I150T possibly damaging Het
Tpte G A 8: 22,810,913 (GRCm39) R190H probably benign Het
Vmn1r4 T C 6: 56,934,060 (GRCm39) V188A probably damaging Het
Vmn2r88 A G 14: 51,654,244 (GRCm39) D542G probably damaging Het
Vps33b T A 7: 79,934,101 (GRCm39) I257N probably damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zc3h11a G T 1: 133,552,446 (GRCm39) Q554K probably benign Het
Zfp947 T C 17: 22,365,074 (GRCm39) K200R probably benign Het
Zscan12 T A 13: 21,553,156 (GRCm39) C327S probably damaging 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
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
R7068:Glb1l UTSW 1 75,179,381 (GRCm39) missense probably damaging 1.00
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'- ATCACCAAAGGATGCTGCCCTG -3'
(R):5'- TGATGAAAAGAGCCCTGCCTCAAG -3'

Sequencing Primer
(F):5'- TGTGTCTCAGACTCCAGGG -3'
(R):5'- CTATCTACCTGGATGGACCAAGG -3'
Posted On 2014-04-24