Incidental Mutation 'R1926:Glb1l2'
ID213446
Institutional Source Beutler Lab
Gene Symbol Glb1l2
Ensembl Gene ENSMUSG00000036395
Gene Namegalactosidase, beta 1-like 2
Synonyms
MMRRC Submission 039944-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R1926 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location26763044-26806468 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26771066 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 163 (D163G)
Ref Sequence ENSEMBL: ENSMUSP00000125022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040398] [ENSMUST00000066560] [ENSMUST00000162252] [ENSMUST00000162702]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040398
AA Change: D300G

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: D300G

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: D284G

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: D284G

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 possibly damaging
Transcript: ENSMUST00000162252
AA Change: D291G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: D291G

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 damaging
Transcript: ENSMUST00000162702
AA Change: D163G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: D163G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_35 27 247 1.4e-67 PFAM
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.6%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik C T 6: 149,329,404 T1316I probably benign Het
Acsm3 C T 7: 119,777,136 T362M probably damaging Het
Ang6 A G 14: 44,002,238 V11A possibly damaging Het
Ankrd17 A G 5: 90,244,169 Y1880H probably damaging Het
BC049730 G A 7: 24,714,116 G186R probably damaging Het
Bmi1 A G 2: 18,682,273 I55V probably benign Het
Bnipl G A 3: 95,243,043 T297M probably damaging Het
Bpifa2 T C 2: 154,013,749 V198A probably benign Het
Brms1l G T 12: 55,863,161 V239F possibly damaging Het
Ccdc158 A G 5: 92,650,788 V351A probably benign Het
Ces1c A G 8: 93,127,604 F101S possibly damaging Het
Cpb2 T C 14: 75,242,397 Y15H probably benign Het
Dglucy A T 12: 100,867,155 N535I possibly damaging Het
Dopey1 C A 9: 86,523,019 H1763Q probably damaging Het
Dpy19l1 C T 9: 24,473,824 M236I probably benign Het
Efna2 T C 10: 80,186,876 Y85H probably damaging Het
Eipr1 A T 12: 28,864,837 probably null Het
Eln A T 5: 134,706,567 Y787* probably null Het
Erbb2 G C 11: 98,425,164 E364D probably benign Het
F5 A G 1: 164,179,508 T294A probably damaging Het
Fam47e A G 5: 92,585,385 T194A possibly damaging Het
Galk1 T C 11: 116,010,247 D202G probably damaging Het
Gmip A G 8: 69,815,520 E408G probably benign Het
Gp1ba A T 11: 70,640,889 probably benign Het
Grm3 A T 5: 9,504,881 C804S probably damaging Het
Gzmd A G 14: 56,130,280 C179R probably damaging Het
Hadhb T A 5: 30,180,937 L415Q possibly damaging Het
Ift80 T C 3: 68,916,165 Y588C probably damaging Het
Jazf1 T C 6: 53,068,531 T13A probably benign Het
Kat8 T A 7: 127,915,295 Y67* probably null Het
Kcnab1 G A 3: 65,376,512 E384K possibly damaging Het
Lhx3 A T 2: 26,202,188 Y230* probably null Het
Lmx1b T A 2: 33,564,662 M365L probably damaging Het
Ly6k G T 15: 74,797,202 P76Q probably benign Het
Map1b A T 13: 99,430,692 H1840Q unknown Het
Map3k2 A G 18: 32,203,110 I117V probably damaging Het
Med13 C A 11: 86,289,073 A1350S possibly damaging Het
Midn T C 10: 80,151,661 S109P probably damaging Het
Msh6 A G 17: 87,986,225 T803A probably benign Het
Nckap1 T C 2: 80,506,838 Y1018C probably damaging Het
Ndufc1 A T 3: 51,407,395 N63K probably benign Het
Neb A T 2: 52,279,635 S1811R probably damaging Het
Notch1 T C 2: 26,481,657 D260G probably damaging Het
Ntn4 C T 10: 93,707,353 R314W probably damaging Het
Oas1g T C 5: 120,879,142 K283R probably benign Het
Obscn T C 11: 59,063,474 T4037A possibly damaging Het
Olfr1414 A G 1: 92,511,608 L140P probably damaging Het
Olfr449 T G 6: 42,838,313 L144R probably damaging Het
Otop2 A T 11: 115,326,955 T206S probably benign Het
Pamr1 A G 2: 102,640,997 probably null Het
Pkp1 G A 1: 135,877,673 T675I probably benign Het
Plxna2 G A 1: 194,762,450 V717I probably benign Het
Ptgs2 T C 1: 150,100,228 L2P possibly damaging Het
Rarg A G 15: 102,239,545 F277S probably damaging Het
Rassf5 A T 1: 131,212,339 I161N probably damaging Het
Rxfp4 A G 3: 88,652,352 V264A probably benign Het
Secisbp2l T A 2: 125,740,677 Q953L probably damaging Het
Serpinb9c T C 13: 33,150,235 I275V probably benign Het
Slc2a12 T C 10: 22,665,242 V332A probably damaging Het
Slc7a1 T C 5: 148,348,303 S127G probably damaging Het
Slc7a4 A T 16: 17,575,704 V77E probably damaging Het
Sp8 G A 12: 118,849,229 S273N possibly damaging Het
Spag6l G T 16: 16,763,057 N475K probably benign Het
St18 A G 1: 6,802,689 H216R probably benign Het
Tcirg1 C T 19: 3,902,843 probably benign Het
Tmeff1 A G 4: 48,658,788 Y87C probably damaging Het
Tmem94 T C 11: 115,792,900 V713A possibly damaging Het
Tnrc6b G T 15: 80,881,162 R955L probably damaging Het
Trip12 A G 1: 84,749,291 V1153A probably damaging Het
Tshz3 T C 7: 36,769,375 L263S probably damaging Het
Tubb6 G A 18: 67,401,321 probably null Het
Ube3a T C 7: 59,276,379 W302R probably damaging Het
Vcpkmt A T 12: 69,582,745 V81E probably damaging Het
Vmn1r175 T A 7: 23,809,041 I54F possibly damaging Het
Vwa8 T A 14: 79,020,635 N741K probably benign Het
Yeats2 A G 16: 20,214,426 T1034A probably benign Het
Zc3h6 G A 2: 128,997,795 R176Q probably damaging Het
Zfp207 T A 11: 80,395,427 Y424* probably null Het
Zfp729a A G 13: 67,619,557 V851A probably benign Het
Zkscan1 G T 5: 138,101,363 A450S probably benign Het
Zkscan3 A G 13: 21,396,446 V24A possibly damaging Het
Other mutations in Glb1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Glb1l2 APN 9 26768418 critical splice donor site probably null
IGL02045:Glb1l2 APN 9 26796545 missense probably benign 0.00
IGL02172:Glb1l2 APN 9 26769086 missense probably damaging 0.98
IGL02372:Glb1l2 APN 9 26796476 missense probably damaging 1.00
IGL02831:Glb1l2 APN 9 26767450 missense probably benign 0.00
IGL03057:Glb1l2 APN 9 26806290 splice site probably benign
IGL03101:Glb1l2 APN 9 26765125 missense probably damaging 1.00
IGL03348:Glb1l2 APN 9 26765680 missense probably benign
P4717OSA:Glb1l2 UTSW 9 26766021 missense probably damaging 1.00
PIT4362001:Glb1l2 UTSW 9 26773981 missense probably benign 0.05
R0219:Glb1l2 UTSW 9 26806322 missense probably benign 0.33
R0414:Glb1l2 UTSW 9 26765104 nonsense probably null
R0418:Glb1l2 UTSW 9 26794101 missense probably damaging 1.00
R0791:Glb1l2 UTSW 9 26769751 missense possibly damaging 0.96
R1165:Glb1l2 UTSW 9 26794101 missense probably damaging 1.00
R1514:Glb1l2 UTSW 9 26769124 splice site probably benign
R1589:Glb1l2 UTSW 9 26769038 nonsense probably null
R2928:Glb1l2 UTSW 9 26768426 missense probably benign 0.10
R3441:Glb1l2 UTSW 9 26780742 missense probably damaging 1.00
R3442:Glb1l2 UTSW 9 26780742 missense probably damaging 1.00
R3706:Glb1l2 UTSW 9 26771020 splice site probably benign
R3814:Glb1l2 UTSW 9 26771034 missense probably benign 0.00
R5079:Glb1l2 UTSW 9 26771109 missense probably benign
R5308:Glb1l2 UTSW 9 26764759 missense probably damaging 1.00
R5310:Glb1l2 UTSW 9 26796866 intron probably benign
R5746:Glb1l2 UTSW 9 26796790 missense probably benign 0.01
R5969:Glb1l2 UTSW 9 26780742 missense probably damaging 1.00
R5998:Glb1l2 UTSW 9 26766003 missense possibly damaging 0.68
R6249:Glb1l2 UTSW 9 26765554 intron probably benign
R6284:Glb1l2 UTSW 9 26767448 missense probably benign 0.01
R6469:Glb1l2 UTSW 9 26796532 missense probably benign 0.03
R7054:Glb1l2 UTSW 9 26765127 missense probably null 0.51
X0020:Glb1l2 UTSW 9 26767733 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TCAAGTCTCTGAAATACCAAGAGC -3'
(R):5'- TCTTCCCTGTTATACCAGCAGATG -3'

Sequencing Primer
(F):5'- GAGCTGAATCTGAATACGAATGATCC -3'
(R):5'- TGGTGAGGCCACACGTG -3'
Posted On2014-07-14