Incidental Mutation 'IGL03290:Podnl1'
ID415885
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: 0.097) question?
Stock #IGL03290
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Chsy1 T C 7: 66,171,031 V338A probably benign Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gna11 A G 10: 81,530,937 F313S probably damaging Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Irak4 T A 15: 94,551,899 D86E probably benign Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr324 A G 11: 58,598,323 N309S probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pcca G A 14: 122,585,106 R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Pogz A T 3: 94,875,091 probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging 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
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