Incidental Mutation 'R5310:Glb1l2'
ID404792
Institutional Source Beutler Lab
Gene Symbol Glb1l2
Ensembl Gene ENSMUSG00000036395
Gene Namegalactosidase, beta 1-like 2
Synonyms
MMRRC Submission 042893-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R5310 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location26763044-26806468 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 26796866 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040398] [ENSMUST00000066560] [ENSMUST00000162252] [ENSMUST00000162378] [ENSMUST00000162702]
Predicted Effect probably benign
Transcript: ENSMUST00000040398
SMART Domains Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395

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
SMART Domains Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395

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: ENSMUST00000161635
Predicted Effect unknown
Transcript: ENSMUST00000162252
AA Change: V4I
SMART Domains Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: V4I

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: ENSMUST00000162378
SMART Domains Protein: ENSMUSP00000123830
Gene: ENSMUSG00000036395

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Glyco_hydro_35 53 190 1.8e-61 PFAM
Pfam:Glyco_hydro_42 68 183 9.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162702
SMART Domains Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395

DomainStartEndE-ValueType
Pfam:Glyco_hydro_35 27 247 1.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216272
Meta Mutation Damage Score 0.0504 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A C 1: 26,685,088 V337G probably benign Het
Abca15 A T 7: 120,332,616 I31L possibly damaging Het
Abca17 T C 17: 24,281,230 K1329R probably benign Het
Acap2 A G 16: 31,133,609 Y197H probably benign Het
Adgrv1 A G 13: 81,476,690 V3720A possibly damaging Het
Alms1 T A 6: 85,615,368 S870T possibly damaging Het
Anapc4 A G 5: 52,859,159 E493G probably benign Het
Ap2a1 A G 7: 44,906,065 probably null Het
Arhgef38 A G 3: 133,116,466 L179P probably damaging Het
Bicral T C 17: 46,813,983 D630G possibly damaging Het
Ccdc97 A T 7: 25,715,776 L154Q probably damaging Het
Cd40 T C 2: 165,063,563 probably null Het
Celsr1 T A 15: 85,926,222 N2155I possibly damaging Het
Cemip A T 7: 83,992,033 L261H probably damaging Het
Cep57 G A 9: 13,818,868 H98Y probably damaging Het
Chrna7 A T 7: 63,106,057 L247Q probably damaging Het
Cyp2c40 T A 19: 39,778,030 M374L probably damaging Het
Cyp4f13 T C 17: 32,925,821 D372G probably damaging Het
Dazl C A 17: 50,281,283 S288I probably damaging Het
Dnah5 T C 15: 28,311,328 F1818L probably damaging Het
Echdc1 T C 10: 29,334,208 V143A possibly damaging Het
Eif4enif1 T A 11: 3,242,687 H838Q probably damaging Het
Erich3 A T 3: 154,763,580 D1223V probably damaging Het
Fbxl2 A G 9: 113,986,508 I229T possibly damaging Het
Gfm2 G A 13: 97,163,151 A406T probably damaging Het
Ggnbp2 A G 11: 84,869,968 M1T probably null Het
Gnl2 A G 4: 125,052,840 K618R probably benign Het
Greb1 A T 12: 16,716,759 I346K probably benign Het
Greb1l G A 18: 10,542,427 E1341K probably damaging Het
Gtse1 A G 15: 85,873,792 Q533R probably benign Het
Hemgn A G 4: 46,403,927 S23P possibly damaging Het
Htr6 G T 4: 139,061,666 H359Q probably damaging Het
Ifit1 T C 19: 34,648,804 F447L probably benign Het
Kansl1 T C 11: 104,424,858 Y118C possibly damaging Het
Khk G A 5: 30,927,029 V118M probably benign Het
Klra17 T A 6: 129,868,708 K181M probably damaging Het
Lbh T C 17: 72,921,292 probably null Het
Lmo2 T C 2: 103,976,100 I108T probably damaging Het
Mgat5 T A 1: 127,387,514 probably null Het
Mink1 T C 11: 70,607,343 V525A probably benign Het
Myo10 C A 15: 25,778,078 probably null Het
Nlrp2 T C 7: 5,325,008 N682S probably benign Het
Nr2e3 G A 9: 59,949,334 probably benign Het
Olfr1415 T C 1: 92,491,036 T240A probably damaging Het
Olfr467 T C 7: 107,814,964 C129R probably damaging Het
Pabpc4l T C 3: 46,446,841 T123A probably benign Het
Pfas G A 11: 68,988,021 S1319F probably damaging Het
Phf3 T C 1: 30,803,806 K2024R probably damaging Het
Pld4 G A 12: 112,768,612 C501Y probably damaging Het
Psg16 C T 7: 17,090,635 R115W probably damaging Het
Rab3gap1 G A 1: 127,942,373 probably null Het
Rimkla C A 4: 119,477,852 K111N probably damaging Het
Rrm2b T C 15: 37,927,327 E113G probably damaging Het
Rspry1 C T 8: 94,623,185 T67I probably benign Het
Skint6 C A 4: 113,184,768 E292* probably null Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Slc13a1 A G 6: 24,134,374 M170T probably benign Het
Slc15a5 T C 6: 138,073,036 N127S probably benign Het
Slc39a10 G A 1: 46,836,125 H6Y probably damaging Het
Sugct A T 13: 17,252,560 C338* probably null Het
Tbk1 A T 10: 121,556,051 M486K probably benign Het
Terf1 A T 1: 15,805,685 E3V probably damaging Het
Thoc5 T A 11: 4,910,648 Y246N probably damaging Het
Tmem167b G A 3: 108,562,099 probably benign Het
Tmem57 T C 4: 134,837,019 probably benign Het
Tmtc1 T A 6: 148,355,412 probably benign Het
Zfp322a A T 13: 23,357,362 M70K possibly damaging Het
Zfp979 A T 4: 147,613,918 H111Q 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
R1926:Glb1l2 UTSW 9 26771066 missense probably damaging 0.96
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
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'- TGTGGTCTAGAGTTTCCACAGC -3'
(R):5'- AGGTATCTGAATCCCAAGGTGG -3'

Sequencing Primer
(F):5'- CAGCAGTGAGAACCAGCACAG -3'
(R):5'- GGCAGCTGTGACCATGAG -3'
Posted On2016-07-22