Incidental Mutation 'IGL03368:Podnl1'
ID420186
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: 0.085) question?
Stock #IGL03368
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,222,373 V1914A probably benign Het
A530053G22Rik T C 6: 60,403,545 noncoding transcript Het
Abca5 A G 11: 110,313,522 probably benign Het
Agxt2 T A 15: 10,388,170 C278* probably null Het
Ankar A G 1: 72,675,813 L384P probably damaging Het
Ankrd55 T C 13: 112,318,556 probably benign Het
Ap5m1 A G 14: 49,081,136 probably benign Het
Arhgap18 C T 10: 26,772,693 S37F possibly damaging Het
Btnl10 G A 11: 58,919,386 V118I possibly damaging Het
Chst11 C A 10: 83,092,146 P66T probably benign Het
Cited2 C A 10: 17,724,196 P84Q possibly damaging Het
D430042O09Rik T C 7: 125,868,858 probably benign Het
Dpy19l4 T A 4: 11,290,253 I302F possibly damaging Het
Ece2 A G 16: 20,644,158 E640G possibly damaging Het
Fam184b T C 5: 45,531,824 D890G possibly damaging Het
Fam227b A T 2: 126,119,063 D215E probably damaging Het
Foxp2 A G 6: 15,394,718 K139R probably damaging Het
Gle1 T C 2: 29,943,793 C401R probably damaging Het
Gp2 A T 7: 119,452,874 C206S probably damaging Het
Hdgfl2 G T 17: 56,079,746 probably benign Het
Hmcn1 T C 1: 150,663,872 N2956S probably damaging Het
Ifi209 A G 1: 173,642,491 Q215R possibly damaging Het
Il20rb C T 9: 100,459,121 probably benign Het
Kif26b A C 1: 178,916,208 S1290R probably damaging Het
Mical1 A G 10: 41,479,629 I156M probably damaging Het
Nbas C T 12: 13,328,451 A613V probably benign Het
Nbea C T 3: 56,079,930 V380M probably damaging Het
Nutf2 T C 8: 105,875,600 F14S probably damaging Het
Olfr1260 A T 2: 89,977,789 I4L probably benign Het
Olfr582 T A 7: 103,041,765 H95Q possibly damaging Het
Parp1 A G 1: 180,580,622 E236G probably benign Het
Ptcd2 T A 13: 99,330,069 probably benign Het
Pygl T C 12: 70,191,152 Q704R probably benign Het
Scaper A T 9: 55,656,027 S492T possibly damaging Het
Sephs1 G A 2: 4,889,269 D94N possibly damaging Het
Slc22a29 A C 19: 8,207,262 probably null Het
Slc22a8 G T 19: 8,609,119 probably benign Het
Slfn5 A G 11: 82,956,385 D32G possibly damaging Het
Sphkap T A 1: 83,275,676 T1451S probably benign Het
Srp54a A C 12: 55,091,266 E63A probably null Het
Stap1 T A 5: 86,090,968 I165N probably damaging Het
Terf2 T C 8: 107,070,549 E494G probably damaging Het
Trak1 C A 9: 121,367,122 L7I possibly damaging Het
Twnk T C 19: 45,010,492 V557A probably damaging Het
U2af2 T A 7: 5,067,264 probably benign Het
Ube2j1 T A 4: 33,038,317 I75N probably damaging Het
Ubr5 A G 15: 37,998,316 V1643A probably damaging Het
Vsx2 A G 12: 84,570,300 T120A 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
IGL03197: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
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