Incidental Mutation 'R5079:Glb1l2'
ID 387030
Institutional Source Beutler Lab
Gene Symbol Glb1l2
Ensembl Gene ENSMUSG00000036395
Gene Name galactosidase, beta 1-like 2
Synonyms
MMRRC Submission 042668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5079 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 26674340-26717764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26682405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 149 (I149V)
Ref Sequence ENSEMBL: ENSMUSP00000125022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040398] [ENSMUST00000066560] [ENSMUST00000162252] [ENSMUST00000162702]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040398
AA Change: I286V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: I286V

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 probably benign
Transcript: ENSMUST00000066560
AA Change: I270V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: I270V

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: ENSMUST00000160458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161635
Predicted Effect probably benign
Transcript: ENSMUST00000162252
AA Change: I277V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: I277V

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: I149V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: I149V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_35 27 247 1.4e-67 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 90% (63/70)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,885,196 (GRCm39) S221G probably benign Het
Abca9 A T 11: 110,036,395 (GRCm39) F571L possibly damaging Het
Agbl4 T A 4: 111,423,826 (GRCm39) M284K possibly damaging Het
Ankrd16 A G 2: 11,783,710 (GRCm39) D104G probably damaging Het
Bpifc T C 10: 85,817,168 (GRCm39) D230G probably damaging Het
Casc3 C T 11: 98,701,252 (GRCm39) probably benign Het
Catsperd T C 17: 56,965,153 (GRCm39) probably null Het
Cpxm2 C T 7: 131,756,014 (GRCm39) probably null Het
Crisp1 A T 17: 40,619,867 (GRCm39) probably null Het
Crybg2 T C 4: 133,801,564 (GRCm39) I908T possibly damaging Het
Csn3 T C 5: 88,077,626 (GRCm39) V44A possibly damaging Het
Dipk1c A T 18: 84,748,702 (GRCm39) H100L probably benign Het
Dop1a T A 9: 86,369,474 (GRCm39) D102E probably damaging Het
Etfdh T C 3: 79,525,705 (GRCm39) Y111C probably damaging Het
Fat3 T C 9: 15,910,423 (GRCm39) S1860G probably benign Het
Gba2 G T 4: 43,568,640 (GRCm39) probably benign Het
Ggta1 A G 2: 35,312,249 (GRCm39) I43T possibly damaging Het
Gm5084 T A 13: 60,360,639 (GRCm39) noncoding transcript Het
Gm5591 G T 7: 38,221,560 (GRCm39) P170T probably benign Het
Gucy2d A T 7: 98,107,475 (GRCm39) probably null Het
Itpr3 T C 17: 27,317,397 (GRCm39) F851L probably damaging Het
Kat2b T A 17: 53,970,666 (GRCm39) I684N probably damaging Het
Klra17 C A 6: 129,849,159 (GRCm39) K138N possibly damaging Het
Lrrc4 T A 6: 28,830,769 (GRCm39) H282L possibly damaging Het
Lyst T C 13: 13,931,938 (GRCm39) I3522T probably benign Het
Man2c1 A G 9: 57,044,000 (GRCm39) T312A probably damaging Het
Mapkbp1 A G 2: 119,844,214 (GRCm39) R313G probably damaging Het
N4bp2 G A 5: 65,969,320 (GRCm39) G1361R probably damaging Het
Nbas A T 12: 13,424,712 (GRCm39) I984F probably damaging Het
Ncor1 T A 11: 62,236,063 (GRCm39) Q579L possibly damaging Het
Nme9 A G 9: 99,341,755 (GRCm39) Y35C probably damaging Het
Or5w13 C A 2: 87,523,552 (GRCm39) V225F probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Paxbp1 C A 16: 90,822,034 (GRCm39) probably null Het
Pcnx1 C A 12: 82,025,863 (GRCm39) S1530* probably null Het
Pogk A G 1: 166,226,733 (GRCm39) W473R probably damaging Het
Pot1b A T 17: 55,976,801 (GRCm39) S374T probably benign Het
Rcn1 A G 2: 105,229,402 (GRCm39) F50S probably damaging Het
Rcvrn T A 11: 67,593,767 (GRCm39) I186N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 T A 4: 100,298,619 (GRCm39) I664N probably damaging Het
Sall2 G T 14: 52,552,211 (GRCm39) A326E probably damaging Het
Sh2d6 G A 6: 72,496,833 (GRCm39) P66S probably benign Het
Slc6a20b T A 9: 123,427,563 (GRCm39) S449C probably damaging Het
Slc9a3 A T 13: 74,312,406 (GRCm39) N668Y probably damaging Het
Slco1a8 A C 6: 141,918,073 (GRCm39) I601R probably benign Het
Sorcs2 T G 5: 36,200,796 (GRCm39) K584T probably damaging Het
Stam T C 2: 14,079,350 (GRCm39) M8T probably benign Het
Styk1 G A 6: 131,278,676 (GRCm39) P333S probably damaging Het
Sycp1 A G 3: 102,786,116 (GRCm39) C589R possibly damaging Het
Tas2r123 A G 6: 132,824,681 (GRCm39) I193V probably benign Het
Tnks1bp1 C A 2: 84,892,970 (GRCm39) Q304K probably damaging Het
Traf3ip2 T C 10: 39,502,473 (GRCm39) L207P probably damaging Het
Usp49 A G 17: 47,984,146 (GRCm39) S384G possibly damaging Het
Vezt T C 10: 93,856,486 (GRCm39) probably null Het
Vmn1r87 C A 7: 12,866,253 (GRCm39) M11I probably benign Het
Vmn2r39 A G 7: 9,026,489 (GRCm39) V504A probably benign Het
Wapl G A 14: 34,446,714 (GRCm39) A607T probably damaging Het
Zfp638 A G 6: 83,906,438 (GRCm39) N201S 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
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
R5998:Glb1l2 UTSW 9 26,677,299 (GRCm39) missense possibly damaging 0.68
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'- AACTCCATACGCAATGCCGG -3'
(R):5'- CTTGTGAGTATCTGTCATATGCAC -3'

Sequencing Primer
(F):5'- GGGAAGGCAGAACACATCCC -3'
(R):5'- TCTGTCATATGCACCATCAAAAG -3'
Posted On 2016-06-06