Incidental Mutation 'R5998:Glb1l2'
ID 480677
Institutional Source Beutler Lab
Gene Symbol Glb1l2
Ensembl Gene ENSMUSG00000036395
Gene Name galactosidase, beta 1-like 2
Synonyms
MMRRC Submission 044177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 26674340-26717764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26677299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 533 (T533I)
Ref Sequence ENSEMBL: ENSMUSP00000124415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040398] [ENSMUST00000066560] [ENSMUST00000159799] [ENSMUST00000160899] [ENSMUST00000162252] [ENSMUST00000162702] [ENSMUST00000161431] [ENSMUST00000161115]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000040398
AA Change: T542I

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: T542I

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_hydro_35 52 384 6.6e-118 PFAM
Pfam:Glyco_hydro_42 84 243 6.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066560
AA Change: T526I

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: T526I

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Glyco_hydro_35 53 368 6.3e-121 PFAM
Pfam:Glyco_hydro_42 68 227 6.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159527
SMART Domains Protein: ENSMUSP00000125401
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
Pfam:Glyco_transf_43 48 259 2.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159799
SMART Domains Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 329 6.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160458
Predicted Effect probably benign
Transcript: ENSMUST00000160899
SMART Domains Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Glyco_transf_43 118 328 1.7e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162252
AA Change: T533I

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: T533I

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
Pfam:Glyco_hydro_35 60 375 5.3e-121 PFAM
Pfam:Glyco_hydro_42 75 234 5.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162702
AA Change: T405I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: T405I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_35 27 247 1.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161431
SMART Domains Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 202 1.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161115
SMART Domains Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Glyco_transf_43 105 316 3.7e-85 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice show decreased mean white blood cell and lymphocyte counts and a decreased mean percentage of natural killer cells. Male mutant mice exhibit impaired glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,517,708 (GRCm39) V4437I probably damaging Het
Acot12 T C 13: 91,905,653 (GRCm39) I71T possibly damaging Het
Adcy10 A G 1: 165,369,218 (GRCm39) I630V probably benign Het
Adcy3 T A 12: 4,248,348 (GRCm39) V470E probably damaging Het
Adcy6 C A 15: 98,492,235 (GRCm39) E1008* probably null Het
Adgrb3 A T 1: 25,470,582 (GRCm39) probably null Het
Ahrr T A 13: 74,361,955 (GRCm39) S515C probably damaging Het
Ankrd52 T C 10: 128,218,992 (GRCm39) I416T probably damaging Het
Arhgap45 T C 10: 79,866,784 (GRCm39) S1096P probably damaging Het
Atp8b4 A G 2: 126,275,787 (GRCm39) probably null Het
Bcl6b A C 11: 70,119,009 (GRCm39) I200M probably damaging Het
Btbd19 T A 4: 116,978,196 (GRCm39) E234V probably benign Het
Csmd1 G A 8: 15,960,443 (GRCm39) T3324I probably damaging Het
Cyp2a5 G A 7: 26,536,578 (GRCm39) V186I probably benign Het
Eif4a3l1 T C 6: 136,305,622 (GRCm39) F28L probably benign Het
Helz G T 11: 107,576,360 (GRCm39) E1851* probably null Het
Igkv15-103 T A 6: 68,414,489 (GRCm39) F13Y unknown Het
Kcnq2 T C 2: 180,728,801 (GRCm39) H548R probably damaging Het
Mcm3ap T C 10: 76,316,976 (GRCm39) probably null Het
Micall2 T C 5: 139,692,666 (GRCm39) probably null Het
Mill2 A G 7: 18,573,989 (GRCm39) R25G probably benign Het
Mtcl1 G A 17: 66,675,275 (GRCm39) H1041Y probably damaging Het
Or5k16 T C 16: 58,736,993 (GRCm39) T4A probably benign Het
Or8d2b G A 9: 38,789,165 (GRCm39) R231H probably damaging Het
Pigt A G 2: 164,349,374 (GRCm39) E559G possibly damaging Het
Pkdrej A G 15: 85,699,654 (GRCm39) V2094A probably benign Het
Prkdc T A 16: 15,601,021 (GRCm39) L2894Q probably damaging Het
Saxo4 A T 19: 10,458,716 (GRCm39) W105R possibly damaging Het
Speer4a2 T C 5: 26,289,704 (GRCm39) D241G probably damaging Het
Tmem63b A G 17: 45,980,926 (GRCm39) V256A possibly damaging Het
Zfp516 T C 18: 82,974,639 (GRCm39) L279P probably damaging Het
Zfp780b T A 7: 27,664,047 (GRCm39) K169N probably benign Het
Other mutations in Glb1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Glb1l2 APN 9 26,679,714 (GRCm39) critical splice donor site probably null
IGL02045:Glb1l2 APN 9 26,707,841 (GRCm39) missense probably benign 0.00
IGL02172:Glb1l2 APN 9 26,680,382 (GRCm39) missense probably damaging 0.98
IGL02372:Glb1l2 APN 9 26,707,772 (GRCm39) missense probably damaging 1.00
IGL02831:Glb1l2 APN 9 26,678,746 (GRCm39) missense probably benign 0.00
IGL03057:Glb1l2 APN 9 26,717,586 (GRCm39) splice site probably benign
IGL03101:Glb1l2 APN 9 26,676,421 (GRCm39) missense probably damaging 1.00
IGL03348:Glb1l2 APN 9 26,676,976 (GRCm39) missense probably benign
P4717OSA:Glb1l2 UTSW 9 26,677,317 (GRCm39) missense probably damaging 1.00
PIT4362001:Glb1l2 UTSW 9 26,685,277 (GRCm39) missense probably benign 0.05
R0219:Glb1l2 UTSW 9 26,717,618 (GRCm39) missense probably benign 0.33
R0414:Glb1l2 UTSW 9 26,676,400 (GRCm39) nonsense probably null
R0418:Glb1l2 UTSW 9 26,705,397 (GRCm39) missense probably damaging 1.00
R0791:Glb1l2 UTSW 9 26,681,047 (GRCm39) missense possibly damaging 0.96
R1165:Glb1l2 UTSW 9 26,705,397 (GRCm39) missense probably damaging 1.00
R1514:Glb1l2 UTSW 9 26,680,420 (GRCm39) splice site probably benign
R1589:Glb1l2 UTSW 9 26,680,334 (GRCm39) nonsense probably null
R1926:Glb1l2 UTSW 9 26,682,362 (GRCm39) missense probably damaging 0.96
R2928:Glb1l2 UTSW 9 26,679,722 (GRCm39) missense probably benign 0.10
R3441:Glb1l2 UTSW 9 26,692,038 (GRCm39) missense probably damaging 1.00
R3442:Glb1l2 UTSW 9 26,692,038 (GRCm39) missense probably damaging 1.00
R3706:Glb1l2 UTSW 9 26,682,316 (GRCm39) splice site probably benign
R3814:Glb1l2 UTSW 9 26,682,330 (GRCm39) missense probably benign 0.00
R5079:Glb1l2 UTSW 9 26,682,405 (GRCm39) missense probably benign
R5308:Glb1l2 UTSW 9 26,676,055 (GRCm39) missense probably damaging 1.00
R5310:Glb1l2 UTSW 9 26,708,162 (GRCm39) intron probably benign
R5746:Glb1l2 UTSW 9 26,708,086 (GRCm39) missense probably benign 0.01
R5969:Glb1l2 UTSW 9 26,692,038 (GRCm39) missense probably damaging 1.00
R6249:Glb1l2 UTSW 9 26,676,850 (GRCm39) intron probably benign
R6284:Glb1l2 UTSW 9 26,678,744 (GRCm39) missense probably benign 0.01
R6469:Glb1l2 UTSW 9 26,707,828 (GRCm39) missense probably benign 0.03
R7054:Glb1l2 UTSW 9 26,676,423 (GRCm39) missense probably null 0.51
R7916:Glb1l2 UTSW 9 26,678,720 (GRCm39) missense probably benign 0.05
R7921:Glb1l2 UTSW 9 26,685,264 (GRCm39) splice site probably null
R8103:Glb1l2 UTSW 9 26,676,980 (GRCm39) missense probably benign
R8354:Glb1l2 UTSW 9 26,717,713 (GRCm39) start gained probably benign
R8454:Glb1l2 UTSW 9 26,717,713 (GRCm39) start gained probably benign
R8485:Glb1l2 UTSW 9 26,679,036 (GRCm39) missense probably benign 0.00
R8834:Glb1l2 UTSW 9 26,689,314 (GRCm39) critical splice donor site probably null
X0020:Glb1l2 UTSW 9 26,679,029 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- ACTAGGTCATAGGATGGCAGC -3'
(R):5'- GTTCAGAGGACCTTTGGCTG -3'

Sequencing Primer
(F):5'- CAAGATAGCAGGATGGGCACTTC -3'
(R):5'- AGGACCTTTGGCTGCACATG -3'
Posted On 2017-06-26