Incidental Mutation 'IGL03197:Podnl1'
ID412875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Podnl1
Ensembl Gene ENSMUSG00000012889
Gene Namepodocan-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL03197
Quality Score
Status
Chromosome8
Chromosomal Location84125989-84132527 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84132189 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 548 (V548I)
Ref Sequence ENSEMBL: ENSMUSP00000091073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000093380] [ENSMUST00000117424]
Predicted Effect probably benign
Transcript: ENSMUST00000040383
SMART Domains Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
DM14 137 194 1.02e-14 SMART
low complexity region 195 206 N/A INTRINSIC
low complexity region 229 238 N/A INTRINSIC
DM14 250 308 8.7e-23 SMART
DM14 342 400 7.44e-31 SMART
low complexity region 457 478 N/A INTRINSIC
DM14 487 545 4.62e-27 SMART
C2 649 763 5.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093380
AA Change: V548I

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
AA Change: V548I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LRRNT 38 71 1.91e0 SMART
LRR 70 89 1.81e2 SMART
LRR 90 115 1.76e-1 SMART
LRR 116 139 1.19e2 SMART
LRR 162 186 1.06e1 SMART
LRR 191 210 5.42e1 SMART
LRR 211 231 1.66e1 SMART
LRR 233 257 3.98e1 SMART
LRR_TYP 258 281 7.9e-4 SMART
LRR 304 328 9.24e1 SMART
LRR_TYP 329 352 4.72e-2 SMART
LRR 375 399 2.61e2 SMART
LRR_TYP 400 423 2.61e-4 SMART
LRR 424 444 3.18e1 SMART
LRR 445 470 3.27e1 SMART
LRR_TYP 471 494 3.63e-3 SMART
LRR 495 515 1.97e1 SMART
LRR 516 541 2.03e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117424
SMART Domains Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 184 193 N/A INTRINSIC
DM14 205 263 8.7e-23 SMART
DM14 297 355 7.44e-31 SMART
low complexity region 411 432 N/A INTRINSIC
DM14 441 499 4.62e-27 SMART
C2 603 717 5.08e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154029
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,971,802 W189R probably damaging Het
Abcb7 A T X: 104,284,191 M704K possibly damaging Het
Anp32e A G 3: 95,937,052 D71G probably damaging Het
Asphd1 T C 7: 126,946,126 D353G probably damaging Het
Baz2b T C 2: 59,901,554 K2047E possibly damaging Het
Cyp2c39 G T 19: 39,566,917 V394F probably damaging Het
Ddx43 G A 9: 78,418,120 M482I probably benign Het
Dnah2 A T 11: 69,459,263 V2348E probably damaging Het
Fam135a A G 1: 24,044,182 F304L probably damaging Het
Gabra3 A G X: 72,540,128 I66T possibly damaging Het
Gm5861 T G 5: 11,183,113 N14K probably damaging Het
Gm8857 T A 5: 10,950,534 probably benign Het
Irf4 A T 13: 30,763,520 probably benign Het
Kif11 A G 19: 37,407,027 D578G probably benign Het
Lrig1 A G 6: 94,606,118 S1006P probably benign Het
Mfsd14a A C 3: 116,636,363 S307A probably benign Het
Mill1 A G 7: 18,264,665 T267A probably benign Het
Nfyc C A 4: 120,773,761 D62Y probably damaging Het
Nin T C 12: 70,026,810 T1190A probably benign Het
Nupl2 T C 5: 24,167,465 S84P probably damaging Het
Ociad1 T C 5: 73,294,332 S15P probably benign Het
Olfr1199 A T 2: 88,756,201 I158K probably damaging Het
Olfr822 A T 10: 130,074,679 I90F probably damaging Het
Olfr843 A G 9: 19,248,802 I199T probably benign Het
Pcdhb11 T A 18: 37,422,424 L269* probably null Het
Pigo A C 4: 43,022,103 M352R possibly damaging Het
Plch1 T C 3: 63,753,170 M343V probably damaging Het
Prkag1 A G 15: 98,815,177 probably benign Het
Rasa4 A G 5: 136,102,012 K379R probably damaging Het
Rraga G A 4: 86,576,276 A120T probably damaging Het
Serpina3a C T 12: 104,116,241 A91V probably damaging Het
Sik2 T C 9: 50,895,773 E779G probably damaging Het
Slc15a3 T G 19: 10,855,079 probably null Het
Smc1b C T 15: 85,070,863 D1063N possibly damaging Het
Srsf12 G A 4: 33,231,040 G183E probably damaging Het
Taf8 A G 17: 47,498,202 S112P probably benign Het
Trhde A G 10: 114,413,308 L851P probably benign Het
Wapl G T 14: 34,745,631 V1182F possibly damaging Het
Zfp326 A G 5: 105,891,193 I231V probably benign Het
Other mutations in Podnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Podnl1 APN 8 84132195 missense probably benign 0.31
IGL03151:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03198:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03225:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03290:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03368:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03493:Podnl1 APN 8 84132189 missense probably benign 0.44
PIT4472001:Podnl1 UTSW 8 84127848 missense
R1056:Podnl1 UTSW 8 84129276 missense probably benign 0.00
R1962:Podnl1 UTSW 8 84127297 missense probably benign 0.04
R4367:Podnl1 UTSW 8 84127268 missense probably benign 0.03
R4412:Podnl1 UTSW 8 84130665 missense probably benign 0.00
R4473:Podnl1 UTSW 8 84131985 missense possibly damaging 0.89
R4715:Podnl1 UTSW 8 84126061 start gained probably benign
R5009:Podnl1 UTSW 8 84126258 missense probably benign 0.01
R5013:Podnl1 UTSW 8 84126336 missense probably damaging 0.99
R5153:Podnl1 UTSW 8 84130643 missense probably benign 0.00
R7596:Podnl1 UTSW 8 84126395 missense
Posted On2016-08-02