Incidental Mutation 'IGL00948:Smtnl2'
ID28569
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smtnl2
Ensembl Gene ENSMUSG00000045667
Gene Namesmoothelin-like 2
SynonymsD130058I21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL00948
Quality Score
Status
Chromosome11
Chromosomal Location72389164-72411713 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) C to A at 72411241 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050226] [ENSMUST00000108500]
Predicted Effect probably null
Transcript: ENSMUST00000050226
SMART Domains Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667

DomainStartEndE-ValueType
coiled coil region 55 88 N/A INTRINSIC
low complexity region 176 181 N/A INTRINSIC
low complexity region 207 218 N/A INTRINSIC
low complexity region 242 252 N/A INTRINSIC
low complexity region 265 287 N/A INTRINSIC
CH 348 448 3.16e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108500
SMART Domains Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667

DomainStartEndE-ValueType
coiled coil region 21 54 N/A INTRINSIC
low complexity region 142 147 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 208 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
CH 314 414 3.16e-22 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 82,035,732 Q24L possibly damaging Het
Cd33 G A 7: 43,529,558 probably benign Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Cyp4a12a T A 4: 115,301,962 M143K probably damaging Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Gskip C A 12: 105,698,844 N47K probably damaging Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Nmral1 C T 16: 4,716,406 G57E probably damaging Het
Olfr801 A T 10: 129,669,887 L211I probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Smtnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Smtnl2 APN 11 72403259 splice site probably benign
IGL01310:Smtnl2 APN 11 72401345 splice site probably null
IGL02277:Smtnl2 APN 11 72391373 missense probably damaging 0.99
R0508:Smtnl2 UTSW 11 72403136 missense probably damaging 1.00
R0784:Smtnl2 UTSW 11 72399937 missense probably damaging 1.00
R1418:Smtnl2 UTSW 11 72401421 missense probably damaging 0.97
R1971:Smtnl2 UTSW 11 72411357 missense probably benign 0.00
R5094:Smtnl2 UTSW 11 72400385 missense probably damaging 1.00
R5270:Smtnl2 UTSW 11 72399917 missense probably benign 0.00
R5518:Smtnl2 UTSW 11 72401516 missense possibly damaging 0.95
R5965:Smtnl2 UTSW 11 72400453 splice site probably null
R6213:Smtnl2 UTSW 11 72401399 missense probably damaging 1.00
R6215:Smtnl2 UTSW 11 72401399 missense probably damaging 1.00
R6255:Smtnl2 UTSW 11 72401399 missense probably damaging 1.00
R6257:Smtnl2 UTSW 11 72401399 missense probably damaging 1.00
R6580:Smtnl2 UTSW 11 72403033 missense probably benign 0.12
R7996:Smtnl2 UTSW 11 72400374 missense probably damaging 1.00
R8392:Smtnl2 UTSW 11 72403167 missense probably benign
Z1176:Smtnl2 UTSW 11 72411711 utr 5 prime probably benign
Z1177:Smtnl2 UTSW 11 72401481 missense probably damaging 1.00
Posted On2013-04-17