Incidental Mutation 'IGL01353:Elfn2'
ID75455
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: 0.060) question?
Stock #IGL01353
Quality Score
Status
Chromosome15
Chromosomal Location78667331-78718771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78672418 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 643 (A643V)
Ref Sequence ENSEMBL: ENSMUSP00000155111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088592
AA Change: A643V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: A643V

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 possibly damaging
Transcript: ENSMUST00000229441
AA Change: A643V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,352,108 V1304E possibly damaging Het
Acr T C 15: 89,569,492 L78P probably damaging Het
Adamts12 T C 15: 11,292,005 probably benign Het
Adgrb2 T C 4: 130,012,300 S872P probably damaging Het
Adhfe1 T A 1: 9,566,863 N413K probably benign Het
Apoh T A 11: 108,397,385 C110S probably damaging Het
Arhgap11a A G 2: 113,833,524 F805L probably damaging Het
BC049730 G T 7: 24,714,237 S226I probably damaging Het
Bin3 C T 14: 70,134,826 L191F possibly damaging Het
Col3a1 A G 1: 45,333,638 probably benign Het
Dapp1 T C 3: 137,961,480 K107R probably benign Het
Dnah5 T C 15: 28,233,272 V259A probably benign Het
Dnah6 T C 6: 73,173,456 M775V probably benign Het
Dnah9 A G 11: 66,080,571 L1597P probably damaging Het
Epha6 T C 16: 60,424,895 T314A probably damaging Het
Fn1 C A 1: 71,586,939 W2237L probably damaging Het
Foxp4 T A 17: 47,888,153 D97V probably damaging Het
Kcnb2 C A 1: 15,710,824 T640K probably benign Het
Miga2 G A 2: 30,371,233 probably null Het
Nacad T A 11: 6,600,530 Q887L possibly damaging Het
Olfr1058 A T 2: 86,386,021 Y132* probably null Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr464 T C 11: 87,914,172 I245V probably benign Het
Olfr866 T C 9: 20,027,047 N297S probably damaging Het
Otub2 A T 12: 103,404,322 M288L probably benign Het
Otud4 A G 8: 79,665,021 S432G probably benign Het
Pcca G A 14: 122,582,617 V58I probably damaging Het
Pdpr T A 8: 111,121,278 probably null Het
Pinx1 C A 14: 63,866,115 Q48K probably benign Het
Pkd1l2 G T 8: 117,057,443 S698R probably benign Het
Psg29 A G 7: 17,205,013 R71G possibly damaging Het
Psmd3 T A 11: 98,690,600 V271E probably benign Het
Smarcc1 A G 9: 110,135,666 N97S probably benign Het
Sulf2 C T 2: 166,087,095 G319S probably damaging Het
Tmem67 C A 4: 12,079,895 C132F probably damaging Het
Ttll7 T C 3: 146,961,719 L780P probably damaging Het
Vmn1r223 A G 13: 23,249,256 T7A unknown Het
Vmn1r76 T G 7: 11,930,810 H159P probably damaging Het
Vnn1 G A 10: 23,900,840 C363Y probably damaging Het
Wdr64 T G 1: 175,731,585 L305V probably damaging Het
Zkscan4 T C 13: 21,484,348 L323P probably damaging Het
Zscan10 A T 17: 23,609,600 H295L probably damaging Het
Other mutations in Elfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02165:Elfn2 APN 15 78673418 missense probably benign 0.04
IGL02951:Elfn2 APN 15 78671882 missense probably damaging 1.00
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
Posted On2013-10-07