Incidental Mutation 'R4416:Elfn1'
ID326834
Institutional Source Beutler Lab
Gene Symbol Elfn1
Ensembl Gene ENSMUSG00000048988
Gene Nameleucine rich repeat and fibronectin type III, extracellular 1
Synonyms
MMRRC Submission 041137-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R4416 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location139907943-139974722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139972194 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 318 (S318P)
Ref Sequence ENSEMBL: ENSMUSP00000053869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050519]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050519
AA Change: S318P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: S318P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,505,574 T183A possibly damaging Het
4933412E24Rik T A 15: 60,016,423 E56V possibly damaging Het
Adam28 A G 14: 68,622,082 probably null Het
Bnc1 G T 7: 81,968,960 H786N probably benign Het
Cav1 T A 6: 17,339,249 M100K probably benign Het
Cdk9 A G 2: 32,708,072 L273P probably damaging Het
Celsr1 A G 15: 85,927,999 V2065A probably damaging Het
Cyp2c54 T C 19: 40,038,259 Q484R probably benign Het
Fam160b1 G T 19: 57,385,397 probably null Het
Fbxl6 T C 15: 76,537,724 E205G possibly damaging Het
Frmd6 T A 12: 70,877,249 Y94N probably benign Het
Gdpd1 A T 11: 87,035,288 V277D probably benign Het
Gm1141 G A X: 71,939,619 C399Y possibly damaging Het
Grik1 C A 16: 88,051,461 V140L probably benign Het
Grpel1 A G 5: 36,471,272 H175R probably damaging Het
Gtdc1 G T 2: 44,575,590 probably null Het
Hivep2 A T 10: 14,129,170 Q504L probably benign Het
Icos A T 1: 60,994,690 I160L probably benign Het
Igsf9b G T 9: 27,322,917 C442F probably damaging Het
Itga10 T C 3: 96,658,246 V1062A possibly damaging Het
Lrp1b C T 2: 40,663,667 V386I unknown Het
Lrp2 G T 2: 69,527,231 F409L probably benign Het
Nadk T G 4: 155,587,726 Y291* probably null Het
Nudt6 A T 3: 37,405,229 probably null Het
Oit3 T C 10: 59,428,103 Y403C probably damaging Het
Olfr694 G A 7: 106,689,011 T240I probably benign Het
Olfr814 T C 10: 129,873,957 T267A probably benign Het
Olfr974 A G 9: 39,942,428 H56R probably damaging Het
Pds5b C T 5: 150,736,396 P275S probably damaging Het
Pdzd7 T A 19: 45,040,580 E117V probably damaging Het
Pik3ca T C 3: 32,461,530 V784A probably damaging Het
Polr3e T C 7: 120,939,057 probably null Het
Rab3gap2 A T 1: 185,282,347 D1231V probably benign Het
Rapgef2 C A 3: 79,069,057 G1481* probably null Het
Rho G A 6: 115,935,230 V76I probably benign Het
Rrm1 A G 7: 102,447,801 D96G probably benign Het
Slc35b2 G A 17: 45,566,429 V161M probably benign Het
Srp9 A T 1: 182,131,411 M50L probably benign Het
Stox1 T C 10: 62,659,569 N975S probably benign Het
Sult1d1 A G 5: 87,558,576 F169S probably damaging Het
Tmem63c C G 12: 87,081,902 T567R probably benign Het
Tmf1 G T 6: 97,178,988 F12L probably damaging Het
Ush2a T C 1: 188,356,874 I342T probably damaging Het
Veph1 A T 3: 66,061,185 N712K probably damaging Het
Vti1a T G 19: 55,380,948 S91A probably benign Het
Other mutations in Elfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1969:Elfn1 UTSW 5 139972849 missense probably damaging 1.00
R2010:Elfn1 UTSW 5 139973316 missense probably damaging 1.00
R3702:Elfn1 UTSW 5 139972359 missense probably benign
R3898:Elfn1 UTSW 5 139971964 missense probably damaging 1.00
R3900:Elfn1 UTSW 5 139971964 missense probably damaging 1.00
R4284:Elfn1 UTSW 5 139972314 nonsense probably null
R4575:Elfn1 UTSW 5 139972053 missense probably benign
R4576:Elfn1 UTSW 5 139972053 missense probably benign
R4578:Elfn1 UTSW 5 139972053 missense probably benign
R4617:Elfn1 UTSW 5 139972009 missense probably damaging 0.99
R4729:Elfn1 UTSW 5 139973658 missense probably damaging 1.00
R4857:Elfn1 UTSW 5 139973085 missense probably damaging 1.00
R5431:Elfn1 UTSW 5 139971568 missense probably damaging 0.99
R5456:Elfn1 UTSW 5 139972816 missense probably damaging 1.00
R6463:Elfn1 UTSW 5 139972285 missense probably damaging 1.00
R6841:Elfn1 UTSW 5 139973145 missense probably damaging 1.00
R6925:Elfn1 UTSW 5 139971685 missense probably benign 0.02
R7224:Elfn1 UTSW 5 139972473 missense probably benign 0.00
R7465:Elfn1 UTSW 5 139972087 missense probably benign 0.34
V7732:Elfn1 UTSW 5 139971439 missense probably damaging 1.00
Z1177:Elfn1 UTSW 5 139972308 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CAAGCTTCAGTCTGTGTGCAC -3'
(R):5'- ACCACGCAGTATGTGTAGTTG -3'

Sequencing Primer
(F):5'- CCTACACTGCTGAGGTGCTTG -3'
(R):5'- CACGCAGTATGTGTAGTTGGTGAG -3'
Posted On2015-07-07