Incidental Mutation 'IGL02472:Espnl'
ID294772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Espnl
Ensembl Gene ENSMUSG00000049515
Gene Nameespin-like
SynonymsLOC227357
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02472
Quality Score
Status
Chromosome1
Chromosomal Location91322075-91348306 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 91340534 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 294 (P294L)
Ref Sequence ENSEMBL: ENSMUSP00000135828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088904] [ENSMUST00000176156]
Predicted Effect probably benign
Transcript: ENSMUST00000088904
AA Change: P338L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: P338L

DomainStartEndE-ValueType
Blast:ANK 1 33 4e-7 BLAST
ANK 35 64 5.21e1 SMART
ANK 69 102 2.88e2 SMART
ANK 103 132 3.85e-2 SMART
ANK 136 166 7.08e-1 SMART
ANK 170 200 1.02e-1 SMART
ANK 204 232 3.04e0 SMART
ANK 238 267 5.01e-1 SMART
ANK 270 299 1.96e-3 SMART
ANK 303 332 3.21e1 SMART
low complexity region 336 345 N/A INTRINSIC
coiled coil region 509 538 N/A INTRINSIC
low complexity region 820 833 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176156
AA Change: P294L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: P294L

DomainStartEndE-ValueType
Blast:ANK 1 33 5e-7 BLAST
ANK 35 64 5.21e1 SMART
ANK 69 102 2.88e2 SMART
ANK 103 132 3.85e-2 SMART
ANK 136 166 7.08e-1 SMART
ANK 170 200 1.02e-1 SMART
ANK 204 232 3.04e0 SMART
ANK 238 267 5.01e-1 SMART
low complexity region 292 301 N/A INTRINSIC
coiled coil region 465 494 N/A INTRINSIC
low complexity region 776 789 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,950,378 N158S probably damaging Het
Ankrd17 A C 5: 90,264,151 L1285V probably damaging Het
Atp8b2 G A 3: 89,954,239 T267I probably damaging Het
Becn1 C T 11: 101,291,398 G115D probably benign Het
Cd3eap T C 7: 19,359,105 D50G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A C 2: 160,984,452 probably benign Het
Col22a1 A G 15: 71,827,753 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnm2 A G 9: 21,485,708 I494V possibly damaging Het
Dock2 T A 11: 34,249,801 E1416D probably benign Het
Eif2ak1 A G 5: 143,884,883 H339R probably benign Het
Ftmt T A 18: 52,331,840 I76N possibly damaging Het
Gorasp2 T G 2: 70,676,459 probably benign Het
Hadhb T A 5: 30,184,063 M468K possibly damaging Het
Hfm1 A G 5: 106,873,928 probably benign Het
Inpp5j T C 11: 3,495,338 probably benign Het
Ipo7 T A 7: 110,040,853 F288I probably damaging Het
Kcnv1 T A 15: 45,109,123 K455* probably null Het
Kdm5a A G 6: 120,406,730 probably benign Het
Kmt2d G A 15: 98,850,077 S3122F probably benign Het
Kndc1 A G 7: 139,910,901 I440V probably benign Het
Mib2 T A 4: 155,656,746 I545F probably damaging Het
Nav2 C T 7: 49,546,041 P1055L probably damaging Het
Olfr111 C A 17: 37,530,749 F257L probably damaging Het
Olfr1257 T A 2: 89,881,411 I195N probably benign Het
Plch1 A T 3: 63,701,849 L65Q probably damaging Het
Ppp3ca A G 3: 136,921,862 I396V possibly damaging Het
Ryr1 A T 7: 29,040,844 N3917K probably damaging Het
Scn7a T C 2: 66,752,314 T80A probably damaging Het
Sema3f C T 9: 107,687,736 E307K probably damaging Het
Serpinb9b A T 13: 33,039,970 probably benign Het
Siglec15 T A 18: 78,043,617 K342N possibly damaging Het
Slc2a12 T C 10: 22,665,155 F303S probably damaging Het
Slc9c1 T C 16: 45,580,142 V705A probably benign Het
Tenm4 T C 7: 96,774,176 probably benign Het
Tm6sf1 A T 7: 81,875,824 probably benign Het
Tmem245 T C 4: 56,899,119 Y269C probably damaging Het
Txndc2 A G 17: 65,637,976 I402T possibly damaging Het
Ube4b A G 4: 149,387,079 probably null Het
Usp28 T A 9: 49,037,769 Y863N possibly damaging Het
Vmn2r69 T C 7: 85,409,752 I534V probably benign Het
Wdr89 A T 12: 75,632,969 D170E probably damaging Het
Zfp280d C A 9: 72,301,711 N74K probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Espnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Espnl APN 1 91340611 nonsense probably null
IGL01726:Espnl APN 1 91344904 missense probably benign
IGL02402:Espnl APN 1 91344813 missense probably benign 0.13
IGL02986:Espnl APN 1 91344850 missense probably benign 0.01
IGL03037:Espnl APN 1 91341921 missense probably benign 0.01
IGL03073:Espnl APN 1 91344556 missense probably damaging 0.99
R0111:Espnl UTSW 1 91344742 missense probably benign 0.29
R0197:Espnl UTSW 1 91344489 missense probably damaging 1.00
R0238:Espnl UTSW 1 91322287 missense probably damaging 0.97
R0239:Espnl UTSW 1 91322287 missense probably damaging 0.97
R0239:Espnl UTSW 1 91322287 missense probably damaging 0.97
R0665:Espnl UTSW 1 91334687 splice site probably null
R1772:Espnl UTSW 1 91344603 missense possibly damaging 0.61
R3804:Espnl UTSW 1 91322221 missense probably benign 0.00
R4352:Espnl UTSW 1 91334721 missense probably damaging 1.00
R4566:Espnl UTSW 1 91344579 missense possibly damaging 0.46
R4790:Espnl UTSW 1 91344424 missense probably damaging 1.00
R5234:Espnl UTSW 1 91344793 missense probably benign 0.02
R6430:Espnl UTSW 1 91322248 missense possibly damaging 0.75
R6652:Espnl UTSW 1 91344699 missense probably benign 0.13
R6785:Espnl UTSW 1 91322221 missense probably benign 0.00
R6800:Espnl UTSW 1 91342629 missense probably damaging 0.98
R7082:Espnl UTSW 1 91334799 missense probably benign 0.00
R7311:Espnl UTSW 1 91323568 missense probably damaging 0.98
R7376:Espnl UTSW 1 91322314 missense probably damaging 1.00
R7880:Espnl UTSW 1 91344766 missense possibly damaging 0.81
R8154:Espnl UTSW 1 91325199 missense possibly damaging 0.87
R8739:Espnl UTSW 1 91344595 missense probably damaging 0.96
Z1177:Espnl UTSW 1 91323555 missense probably damaging 1.00
Posted On2015-04-16