Incidental Mutation 'R4578:Elfn1'
ID 343404
Institutional Source Beutler Lab
Gene Symbol Elfn1
Ensembl Gene ENSMUSG00000048988
Gene Name leucine rich repeat and fibronectin type III, extracellular 1
Synonyms A930017N06Rik
MMRRC Submission 041800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4578 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 139893698-139960477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139957808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 271 (S271P)
Ref Sequence ENSEMBL: ENSMUSP00000053869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050519]
AlphaFold Q8C8T7
Predicted Effect probably benign
Transcript: ENSMUST00000050519
AA Change: S271P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: S271P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LRR 83 106 3.24e0 SMART
LRR 109 130 9.22e0 SMART
LRR 131 154 4.2e0 SMART
LRR 155 178 6.78e1 SMART
LRRCT 190 240 4.49e-4 SMART
low complexity region 268 288 N/A INTRINSIC
low complexity region 300 313 N/A INTRINSIC
Blast:FN3 314 389 1e-27 BLAST
low complexity region 400 413 N/A INTRINSIC
transmembrane domain 418 440 N/A INTRINSIC
low complexity region 441 463 N/A INTRINSIC
low complexity region 632 652 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198608
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutants display impaired coordination, hyperactivity, lower anxiety-related response, and increased susceptibility to induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,537 (GRCm39) Y440* probably null Het
Aldh3b3 A T 19: 4,014,832 (GRCm39) T110S probably benign Het
Atp2b2 T C 6: 113,737,672 (GRCm39) T901A probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bfar A T 16: 13,505,307 (GRCm39) I106F probably benign Het
Btbd10 T G 7: 112,921,959 (GRCm39) I301L possibly damaging Het
Card14 G A 11: 119,217,567 (GRCm39) R400H probably benign Het
Ccdc80 A G 16: 44,915,849 (GRCm39) R202G probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cmtm7 A C 9: 114,592,351 (GRCm39) I82S probably benign Het
Cngb3 T A 4: 19,425,613 (GRCm39) W474R probably damaging Het
Coq9 T C 8: 95,580,234 (GRCm39) V285A probably benign Het
Cp A G 3: 20,028,052 (GRCm39) E486G probably damaging Het
Crybg3 C T 16: 59,350,564 (GRCm39) C892Y probably damaging Het
Cttn A T 7: 144,008,453 (GRCm39) F176L probably damaging Het
Cytip T A 2: 58,050,024 (GRCm39) N15I possibly damaging Het
Dgkb A G 12: 38,477,492 (GRCm39) E634G possibly damaging Het
Duox1 A G 2: 122,164,258 (GRCm39) E906G probably benign Het
Efcab6 A T 15: 83,817,369 (GRCm39) S735T probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Ercc5 T A 1: 44,187,308 (GRCm39) V29E probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Ftcd A C 10: 76,425,092 (GRCm39) E524D probably benign Het
Gfod2 T C 8: 106,454,878 (GRCm39) M1V probably null Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Gsta4 A T 9: 78,113,302 (GRCm39) R127S probably benign Het
Hcn2 G A 10: 79,560,282 (GRCm39) probably null Het
Hectd1 A G 12: 51,798,715 (GRCm39) V2135A probably damaging Het
Hoxc6 A G 15: 102,918,093 (GRCm39) D19G probably benign Het
Hydin A T 8: 110,993,971 (GRCm39) T2S unknown Het
Ifna14 A T 4: 88,489,747 (GRCm39) S97T possibly damaging Het
Igkv17-127 T C 6: 67,838,183 (GRCm39) L14P unknown Het
Il17rb A G 14: 29,724,356 (GRCm39) V166A probably damaging Het
Iqca1 T A 1: 90,001,472 (GRCm39) I520F probably damaging Het
Kcnv2 G T 19: 27,300,994 (GRCm39) V282L probably benign Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Lrfn5 A G 12: 61,890,763 (GRCm39) D684G probably benign Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mis18bp1 T C 12: 65,200,655 (GRCm39) Y124C probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh2 T A 11: 67,064,084 (GRCm39) V48D possibly damaging Het
Nat10 A G 2: 103,584,417 (GRCm39) M120T probably damaging Het
Nf1 T C 11: 79,336,585 (GRCm39) S1065P probably damaging Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Pced1a A C 2: 130,264,596 (GRCm39) L78R probably damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Pomgnt2 G A 9: 121,812,131 (GRCm39) R217C probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rngtt A G 4: 33,339,050 (GRCm39) E285G probably benign Het
Sclt1 G A 3: 41,625,900 (GRCm39) Q356* probably null Het
Scn2b T C 9: 45,037,460 (GRCm39) F169S possibly damaging Het
Sfta2 C T 17: 35,960,775 (GRCm39) probably benign Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Sspo A C 6: 48,440,307 (GRCm39) D1541A possibly damaging Het
Strc G A 2: 121,208,484 (GRCm39) L296F possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Taf6l C A 19: 8,761,335 (GRCm39) R10L possibly damaging Het
Tbx3 G T 5: 119,820,841 (GRCm39) R617L probably damaging Het
Tnrc6a A G 7: 122,783,444 (GRCm39) R1471G possibly damaging Het
Togaram1 T C 12: 65,067,100 (GRCm39) L1714P probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Vcp A T 4: 42,984,565 (GRCm39) M442K probably benign Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Vmn2r52 A T 7: 9,904,617 (GRCm39) H407Q probably damaging Het
Vps13a A T 19: 16,659,474 (GRCm39) D1684E probably damaging Het
Wdr49 T C 3: 75,242,550 (GRCm39) M380V probably benign Het
Other mutations in Elfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1969:Elfn1 UTSW 5 139,958,604 (GRCm39) missense probably damaging 1.00
R2010:Elfn1 UTSW 5 139,959,071 (GRCm39) missense probably damaging 1.00
R3702:Elfn1 UTSW 5 139,958,114 (GRCm39) missense probably benign
R3898:Elfn1 UTSW 5 139,957,719 (GRCm39) missense probably damaging 1.00
R3900:Elfn1 UTSW 5 139,957,719 (GRCm39) missense probably damaging 1.00
R4284:Elfn1 UTSW 5 139,958,069 (GRCm39) nonsense probably null
R4416:Elfn1 UTSW 5 139,957,949 (GRCm39) missense possibly damaging 0.52
R4575:Elfn1 UTSW 5 139,957,808 (GRCm39) missense probably benign
R4576:Elfn1 UTSW 5 139,957,808 (GRCm39) missense probably benign
R4617:Elfn1 UTSW 5 139,957,764 (GRCm39) missense probably damaging 0.99
R4729:Elfn1 UTSW 5 139,959,413 (GRCm39) missense probably damaging 1.00
R4857:Elfn1 UTSW 5 139,958,840 (GRCm39) missense probably damaging 1.00
R5431:Elfn1 UTSW 5 139,957,323 (GRCm39) missense probably damaging 0.99
R5456:Elfn1 UTSW 5 139,958,571 (GRCm39) missense probably damaging 1.00
R6463:Elfn1 UTSW 5 139,958,040 (GRCm39) missense probably damaging 1.00
R6841:Elfn1 UTSW 5 139,958,900 (GRCm39) missense probably damaging 1.00
R6925:Elfn1 UTSW 5 139,957,440 (GRCm39) missense probably benign 0.02
R7224:Elfn1 UTSW 5 139,958,228 (GRCm39) missense probably benign 0.00
R7465:Elfn1 UTSW 5 139,957,842 (GRCm39) missense probably benign 0.34
R8171:Elfn1 UTSW 5 139,957,112 (GRCm39) missense probably damaging 1.00
R8354:Elfn1 UTSW 5 139,957,226 (GRCm39) missense probably damaging 0.99
R8454:Elfn1 UTSW 5 139,957,226 (GRCm39) missense probably damaging 0.99
R9381:Elfn1 UTSW 5 139,959,462 (GRCm39) missense probably damaging 1.00
R9655:Elfn1 UTSW 5 139,958,964 (GRCm39) missense possibly damaging 0.58
V7732:Elfn1 UTSW 5 139,957,194 (GRCm39) missense probably damaging 1.00
Z1177:Elfn1 UTSW 5 139,958,063 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGAGATCTACAGCAACCCTTTC -3'
(R):5'- GCCGAATTTTGGGTCAGCTG -3'

Sequencing Primer
(F):5'- GAGATCTACAGCAACCCTTTCTACTG -3'
(R):5'- CAGCTGCTTGACCTTCATGGAG -3'
Posted On 2015-09-24