Incidental Mutation 'IGL00467:Glipr1l1'
ID6091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glipr1l1
Ensembl Gene ENSMUSG00000020213
Gene NameGLI pathogenesis-related 1 like 1
Synonyms1700011E04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL00467
Quality Score
Status
Chromosome10
Chromosomal Location112060189-112078510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 112078381 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000073302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020434] [ENSMUST00000073617] [ENSMUST00000148897]
Predicted Effect probably benign
Transcript: ENSMUST00000020434
SMART Domains Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
SCP 49 199 7.3e-30 SMART
transmembrane domain 251 273 N/A INTRINSIC
low complexity region 303 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073617
AA Change: T216A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: T216A

DomainStartEndE-ValueType
SCP 40 186 6.52e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148897
SMART Domains Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
SCP 49 199 7.3e-30 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,670 probably benign Het
Acvrl1 C A 15: 101,143,340 probably null Het
Ahnak T A 19: 9,007,223 M1957K probably damaging Het
Brinp3 A G 1: 146,901,774 D653G probably damaging Het
Dcstamp T A 15: 39,754,416 C74S probably benign Het
Esrrg A G 1: 188,210,910 E360G probably damaging Het
Fam13a C T 6: 58,940,113 probably benign Het
Fam208a A G 14: 27,448,164 N350S probably benign Het
Lama2 T A 10: 27,467,197 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mta3 T A 17: 83,755,684 probably benign Het
Nfu1 A G 6: 87,020,773 M213V possibly damaging Het
Pam A T 1: 97,924,427 probably benign Het
Pcca A T 14: 122,582,629 M62L probably benign Het
Phf6 A G X: 52,931,646 Y25C probably damaging Het
Phlpp2 C T 8: 109,925,790 H589Y probably benign Het
Ppp1r13b A G 12: 111,829,370 I956T probably damaging Het
Prkcd G A 14: 30,602,422 probably benign Het
Rapgef4 A T 2: 72,256,312 N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 E905* probably null Het
Slc26a6 T A 9: 108,855,889 D22E probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taf6l A T 19: 8,783,388 N57K probably benign Het
Tas2r109 C A 6: 132,980,023 V315L probably benign Het
Tex9 T C 9: 72,477,835 T240A probably benign Het
Trank1 G A 9: 111,364,666 probably benign Het
Trim30c A T 7: 104,382,182 Y475* probably null Het
Trim60 T C 8: 65,000,719 T293A possibly damaging Het
Ttc21b T C 2: 66,188,364 Y1233C probably damaging Het
Wdr75 A G 1: 45,802,075 I106V probably benign Het
Zkscan16 T C 4: 58,957,709 S664P possibly damaging Het
Other mutations in Glipr1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Glipr1l1 APN 10 112072279 missense probably damaging 0.97
IGL01893:Glipr1l1 APN 10 112076169 missense probably benign 0.06
IGL02576:Glipr1l1 APN 10 112060319 missense possibly damaging 0.77
IGL03309:Glipr1l1 APN 10 112072236 splice site probably benign
P0031:Glipr1l1 UTSW 10 112060387 missense probably benign
R0987:Glipr1l1 UTSW 10 112078435 missense probably benign
R0992:Glipr1l1 UTSW 10 112062325 missense probably benign
R2136:Glipr1l1 UTSW 10 112060476 missense probably damaging 1.00
R2248:Glipr1l1 UTSW 10 112062287 missense probably benign 0.09
R4297:Glipr1l1 UTSW 10 112062347 missense probably benign 0.05
R4298:Glipr1l1 UTSW 10 112062347 missense probably benign 0.05
R4569:Glipr1l1 UTSW 10 112062412 missense probably benign 0.00
R5015:Glipr1l1 UTSW 10 112078374 missense probably benign 0.00
R5552:Glipr1l1 UTSW 10 112062338 missense probably benign 0.00
R5629:Glipr1l1 UTSW 10 112078403 missense possibly damaging 0.90
R6061:Glipr1l1 UTSW 10 112076170 missense probably benign 0.32
R6237:Glipr1l1 UTSW 10 112060427 nonsense probably null
R6519:Glipr1l1 UTSW 10 112062248 missense probably benign 0.02
R6913:Glipr1l1 UTSW 10 112062434 critical splice donor site probably null
R7621:Glipr1l1 UTSW 10 112060395 missense probably benign 0.00
R8171:Glipr1l1 UTSW 10 112078384 missense probably benign 0.01
X0023:Glipr1l1 UTSW 10 112078439 missense probably damaging 0.98
Z1177:Glipr1l1 UTSW 10 112078390 missense probably benign 0.00
Posted On2012-04-20