Incidental Mutation 'IGL02951:Elfn2'
ID366014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elfn2
Ensembl Gene ENSMUSG00000043460
Gene Nameleucine rich repeat and fibronectin type III, extracellular 2
SynonymsLrrc62
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02951
Quality Score
Status
Chromosome15
Chromosomal Location78667331-78718771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78671882 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 822 (K822E)
Ref Sequence ENSEMBL: ENSMUSP00000155111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]
Predicted Effect probably damaging
Transcript: ENSMUST00000088592
AA Change: K822E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: K822E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LRR 78 101 9.96e-1 SMART
LRR 103 125 5.56e0 SMART
LRR 126 149 6.96e0 SMART
LRR 150 173 1.66e1 SMART
LRRCT 185 240 9.74e-2 SMART
FN3 293 371 4.56e0 SMART
transmembrane domain 397 419 N/A INTRINSIC
low complexity region 583 598 N/A INTRINSIC
low complexity region 633 647 N/A INTRINSIC
low complexity region 686 696 N/A INTRINSIC
low complexity region 754 768 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229441
AA Change: K822E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230478
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp13a3 A G 16: 30,338,621 probably null Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Faap24 C A 7: 35,392,951 K180N probably damaging Het
Fam205a1 C T 4: 42,850,696 E487K probably benign Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gpaa1 T A 15: 76,332,819 probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 S425* probably null Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Snapc4 A C 2: 26,370,835 N465K probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging Het
Other mutations in Elfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Elfn2 APN 15 78672418 missense possibly damaging 0.88
IGL02165:Elfn2 APN 15 78673418 missense probably benign 0.04
IGL03402:Elfn2 APN 15 78673470 missense possibly damaging 0.50
R0083:Elfn2 UTSW 15 78673414 missense probably damaging 1.00
R0441:Elfn2 UTSW 15 78673595 missense probably benign 0.09
R0570:Elfn2 UTSW 15 78673234 missense probably damaging 1.00
R1155:Elfn2 UTSW 15 78673144 missense probably benign 0.03
R1670:Elfn2 UTSW 15 78672368 missense probably benign 0.05
R2033:Elfn2 UTSW 15 78671896 missense probably damaging 1.00
R2138:Elfn2 UTSW 15 78674038 missense probably benign 0.05
R2167:Elfn2 UTSW 15 78672446 missense probably benign 0.09
R2226:Elfn2 UTSW 15 78674243 missense probably damaging 1.00
R2497:Elfn2 UTSW 15 78674264 missense probably damaging 1.00
R5175:Elfn2 UTSW 15 78673873 missense probably damaging 1.00
R5215:Elfn2 UTSW 15 78674201 missense probably damaging 1.00
R5588:Elfn2 UTSW 15 78673876 missense probably damaging 1.00
R7291:Elfn2 UTSW 15 78672983 missense probably benign 0.21
R7760:Elfn2 UTSW 15 78673841 missense probably benign 0.00
R7893:Elfn2 UTSW 15 78673168 missense probably damaging 1.00
R8018:Elfn2 UTSW 15 78673768 missense probably damaging 1.00
R8084:Elfn2 UTSW 15 78672460 missense probably damaging 0.98
R8112:Elfn2 UTSW 15 78673435 missense probably damaging 0.97
R8501:Elfn2 UTSW 15 78674300 missense probably benign
R8717:Elfn2 UTSW 15 78672361 missense probably benign 0.01
R8961:Elfn2 UTSW 15 78673178 missense probably benign 0.00
Posted On2015-12-18