Incidental Mutation 'R7082:Espnl'
ID 549572
Institutional Source Beutler Lab
Gene Symbol Espnl
Ensembl Gene ENSMUSG00000049515
Gene Name espin-like
Synonyms LOC227357
MMRRC Submission 045176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7082 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 91249797-91276028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91262521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 322 (F322Y)
Ref Sequence ENSEMBL: ENSMUSP00000086294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088904] [ENSMUST00000176156]
AlphaFold Q3UYR4
Predicted Effect probably benign
Transcript: ENSMUST00000088904
AA Change: F322Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: F322Y

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
SMART Domains Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (88/88)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,260 (GRCm39) N109Y unknown Het
A430005L14Rik C T 4: 154,044,221 (GRCm39) R11W probably damaging Het
Aadacl2 T A 3: 59,932,306 (GRCm39) S274T probably damaging Het
Ahctf1 T C 1: 179,602,898 (GRCm39) R887G probably benign Het
Aox4 G T 1: 58,263,352 (GRCm39) R158L possibly damaging Het
Atp10a T C 7: 58,308,567 (GRCm39) I122T probably damaging Het
Batf2 G T 19: 6,221,405 (GRCm39) A72S possibly damaging Het
Bltp3a G T 17: 28,109,039 (GRCm39) R1086L probably damaging Het
Bptf T C 11: 106,977,573 (GRCm39) D749G probably benign Het
Cacybp A G 1: 160,031,229 (GRCm39) Y200H probably damaging Het
Cdc40 A T 10: 40,743,869 (GRCm39) V76D probably benign Het
Cdc42ep4 T C 11: 113,619,944 (GRCm39) D149G probably benign Het
Chtop A G 3: 90,414,891 (GRCm39) V9A probably benign Het
Cnot9 A G 1: 74,566,165 (GRCm39) I185M probably damaging Het
Col6a5 A G 9: 105,808,438 (GRCm39) I870T unknown Het
Cr1l A G 1: 194,806,006 (GRCm39) I159T probably benign Het
Cthrc1 T C 15: 38,940,495 (GRCm39) S33P probably benign Het
Dlg2 T A 7: 90,381,192 (GRCm39) W44R probably benign Het
Dlgap4 T C 2: 156,590,342 (GRCm39) probably null Het
Dna2 A G 10: 62,790,096 (GRCm39) H193R possibly damaging Het
Fam171a1 G A 2: 3,224,512 (GRCm39) V293I probably benign Het
Fam76b A G 9: 13,744,308 (GRCm39) Y135C probably damaging Het
Flvcr2 A T 12: 85,793,728 (GRCm39) I35F probably benign Het
Gm9195 T A 14: 72,680,152 (GRCm39) Q2219L probably benign Het
Gnptg T C 17: 25,453,694 (GRCm39) T283A probably benign Het
Grap2 G A 15: 80,532,699 (GRCm39) V289M probably benign Het
Hk3 T C 13: 55,154,710 (GRCm39) T767A probably benign Het
Hs3st5 A G 10: 36,708,833 (GRCm39) I123V probably benign Het
Il6st A G 13: 112,640,566 (GRCm39) T781A probably damaging Het
Inpp5d T A 1: 87,623,102 (GRCm39) H398Q probably damaging Het
Kcnk1 A G 8: 126,722,287 (GRCm39) Y30C probably damaging Het
Klhl6 T C 16: 19,801,633 (GRCm39) T41A probably benign Het
Krt14 G A 11: 100,094,167 (GRCm39) H476Y possibly damaging Het
Lingo3 G C 10: 80,671,625 (GRCm39) R102G probably benign Het
Map3k9 G A 12: 81,771,476 (GRCm39) T704M probably damaging Het
Mdn1 C A 4: 32,762,341 (GRCm39) N5088K probably benign Het
Mmp9 T A 2: 164,790,812 (GRCm39) S67T probably benign Het
Mrps18c A G 5: 100,952,270 (GRCm39) E143G probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Muc21 A T 17: 35,932,093 (GRCm39) S698T unknown Het
Nags C A 11: 102,038,298 (GRCm39) R335S possibly damaging Het
Nars1 A G 18: 64,637,425 (GRCm39) V385A possibly damaging Het
Nipal2 A C 15: 34,584,809 (GRCm39) V253G possibly damaging Het
Nos2 C A 11: 78,819,405 (GRCm39) T39K probably benign Het
Or10p1 T A 10: 129,443,416 (GRCm39) *311Y probably null Het
Or10p1 T A 10: 129,443,417 (GRCm39) *311L probably null Het
Or51t4 T C 7: 102,598,455 (GRCm39) V261A probably damaging Het
Or52s19 C A 7: 103,007,495 (GRCm39) R302L possibly damaging Het
Or6c66 C T 10: 129,461,634 (GRCm39) V99M probably benign Het
Or9s15 G A 1: 92,524,140 (GRCm39) probably benign Het
Panx3 G A 9: 37,577,913 (GRCm39) P106S probably benign Het
Pappa2 G A 1: 158,590,689 (GRCm39) T1655I possibly damaging Het
Pcdhb1 A G 18: 37,400,044 (GRCm39) D665G probably damaging Het
Pde2a T C 7: 101,157,303 (GRCm39) L676P probably damaging Het
Pf4 A G 5: 90,920,851 (GRCm39) T60A possibly damaging Het
Pira12 C T 7: 3,898,510 (GRCm39) V313M probably damaging Het
Pld5 A T 1: 175,917,442 (GRCm39) C164S probably benign Het
Psd3 A T 8: 68,356,800 (GRCm39) M640K probably benign Het
Ptf1a A G 2: 19,450,676 (GRCm39) D2G possibly damaging Het
Ptprq C T 10: 107,544,591 (GRCm39) C313Y probably benign Het
Ranbp10 A G 8: 106,500,578 (GRCm39) S467P probably damaging Het
Rap1gap C T 4: 137,446,247 (GRCm39) T333M probably damaging Het
Rfpl4 A G 7: 5,118,558 (GRCm39) L4P probably benign Het
Rgs12 A G 5: 35,124,050 (GRCm39) N611S probably benign Het
Sacs C A 14: 61,447,966 (GRCm39) N3337K possibly damaging Het
Sbno2 A T 10: 79,895,924 (GRCm39) probably null Het
Scrn2 T A 11: 96,923,908 (GRCm39) V264E possibly damaging Het
Serpinb9c T A 13: 33,338,390 (GRCm39) I198L probably benign Het
Shank2 T C 7: 143,964,096 (GRCm39) F568S probably damaging Het
Slc47a1 C T 11: 61,268,767 (GRCm39) R36Q probably benign Het
Slc4a8 A C 15: 100,688,908 (GRCm39) E406A probably damaging Het
Speg C T 1: 75,388,091 (GRCm39) T1483I probably damaging Het
Srbd1 A G 17: 86,365,160 (GRCm39) V632A probably damaging Het
Srd5a2 A T 17: 74,328,515 (GRCm39) Y188N probably damaging Het
Sspo A T 6: 48,455,543 (GRCm39) probably null Het
Ssx2ip A T 3: 146,136,703 (GRCm39) D317V probably benign Het
Tmco3 G T 8: 13,370,847 (GRCm39) E172* probably null Het
Trpc4 G A 3: 54,206,519 (GRCm39) W573* probably null Het
Ttn T C 2: 76,580,340 (GRCm39) I23518V probably benign Het
Tubal3 A G 13: 3,983,050 (GRCm39) T277A possibly damaging Het
Unc5b A T 10: 60,610,867 (GRCm39) L391H probably damaging Het
Vmn2r76 A G 7: 85,874,440 (GRCm39) F846L probably benign Het
Vps13c T A 9: 67,790,735 (GRCm39) Y338N probably damaging Het
Zc3hav1 G T 6: 38,309,328 (GRCm39) S498* probably null Het
Zfand4 T A 6: 116,305,337 (GRCm39) probably null Het
Zfp451 A T 1: 33,811,972 (GRCm39) probably null Het
Zfp607a A T 7: 27,578,183 (GRCm39) I418F probably damaging Het
Zfp612 A G 8: 110,816,337 (GRCm39) T515A probably damaging Het
Zfp708 G T 13: 67,219,200 (GRCm39) L208I possibly damaging Het
Other mutations in Espnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Espnl APN 1 91,268,333 (GRCm39) nonsense probably null
IGL01726:Espnl APN 1 91,272,626 (GRCm39) missense probably benign
IGL02402:Espnl APN 1 91,272,535 (GRCm39) missense probably benign 0.13
IGL02472:Espnl APN 1 91,268,256 (GRCm39) missense probably benign 0.02
IGL02986:Espnl APN 1 91,272,572 (GRCm39) missense probably benign 0.01
IGL03037:Espnl APN 1 91,269,643 (GRCm39) missense probably benign 0.01
IGL03073:Espnl APN 1 91,272,278 (GRCm39) missense probably damaging 0.99
R0111:Espnl UTSW 1 91,272,464 (GRCm39) missense probably benign 0.29
R0197:Espnl UTSW 1 91,272,211 (GRCm39) missense probably damaging 1.00
R0238:Espnl UTSW 1 91,250,009 (GRCm39) missense probably damaging 0.97
R0239:Espnl UTSW 1 91,250,009 (GRCm39) missense probably damaging 0.97
R0239:Espnl UTSW 1 91,250,009 (GRCm39) missense probably damaging 0.97
R0665:Espnl UTSW 1 91,262,409 (GRCm39) splice site probably null
R1772:Espnl UTSW 1 91,272,325 (GRCm39) missense possibly damaging 0.61
R3804:Espnl UTSW 1 91,249,943 (GRCm39) missense probably benign 0.00
R4352:Espnl UTSW 1 91,262,443 (GRCm39) missense probably damaging 1.00
R4566:Espnl UTSW 1 91,272,301 (GRCm39) missense possibly damaging 0.46
R4790:Espnl UTSW 1 91,272,146 (GRCm39) missense probably damaging 1.00
R5234:Espnl UTSW 1 91,272,515 (GRCm39) missense probably benign 0.02
R6430:Espnl UTSW 1 91,249,970 (GRCm39) missense possibly damaging 0.75
R6652:Espnl UTSW 1 91,272,421 (GRCm39) missense probably benign 0.13
R6785:Espnl UTSW 1 91,249,943 (GRCm39) missense probably benign 0.00
R6800:Espnl UTSW 1 91,270,351 (GRCm39) missense probably damaging 0.98
R7311:Espnl UTSW 1 91,251,290 (GRCm39) missense probably damaging 0.98
R7376:Espnl UTSW 1 91,250,036 (GRCm39) missense probably damaging 1.00
R7880:Espnl UTSW 1 91,272,488 (GRCm39) missense possibly damaging 0.81
R8154:Espnl UTSW 1 91,252,921 (GRCm39) missense possibly damaging 0.87
R8739:Espnl UTSW 1 91,272,317 (GRCm39) missense probably damaging 0.96
R9266:Espnl UTSW 1 91,272,771 (GRCm39) missense probably benign 0.40
R9354:Espnl UTSW 1 91,272,323 (GRCm39) missense probably benign 0.00
R9428:Espnl UTSW 1 91,273,595 (GRCm39) missense probably damaging 1.00
R9798:Espnl UTSW 1 91,251,286 (GRCm39) missense probably damaging 1.00
Z1177:Espnl UTSW 1 91,251,277 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACTGAGTGGGTTCTTCCAAG -3'
(R):5'- CTGACCAAGTGACTGACTGG -3'

Sequencing Primer
(F):5'- TGCTGAATGACCAAGCCTGTG -3'
(R):5'- CAAGTGACTGACTGGGTCCTTC -3'
Posted On 2019-05-15