Incidental Mutation 'R3900:Elfn1'
ID 308927
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 041607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R3900 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139893698-139960477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139957719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 241 (R241H)
Ref Sequence ENSEMBL: ENSMUSP00000053869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050519]
AlphaFold Q8C8T7
Predicted Effect probably damaging
Transcript: ENSMUST00000050519
AA Change: R241H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: R241H

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 0.1157 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,781 (GRCm39) S212R probably damaging Het
AI182371 T C 2: 34,975,228 (GRCm39) I334V probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apc2 C A 10: 80,131,806 (GRCm39) probably null Het
Bcl6 T G 16: 23,796,304 (GRCm39) E41A possibly damaging Het
Brpf1 A G 6: 113,295,394 (GRCm39) I674V probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cluh A G 11: 74,557,930 (GRCm39) H1056R probably benign Het
Csgalnact2 A T 6: 118,097,975 (GRCm39) F122I probably damaging Het
Cubn C A 2: 13,291,791 (GRCm39) probably null Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Eif2ak4 A G 2: 118,305,510 (GRCm39) Y1561C probably damaging Het
Eml5 G A 12: 98,791,782 (GRCm39) R1245C probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm6133 A G 18: 78,393,365 (GRCm39) N120D probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf9 T C 1: 172,317,125 (GRCm39) L35P probably damaging Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mrgpra1 G T 7: 46,985,275 (GRCm39) R135S possibly damaging Het
Or4c11b A T 2: 88,625,273 (GRCm39) L182F possibly damaging Het
Or8g2b A G 9: 39,750,698 (GRCm39) probably null Het
Otud3 T C 4: 138,624,196 (GRCm39) N282S probably benign Het
Prkar1a A G 11: 109,551,901 (GRCm39) K130R probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Rictor T G 15: 6,818,954 (GRCm39) D1392E probably benign Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc22a18 C A 7: 143,033,507 (GRCm39) A86E probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Smoc1 T C 12: 81,214,287 (GRCm39) V234A probably damaging Het
Stard9 A G 2: 120,544,030 (GRCm39) T4443A possibly damaging Het
Timp2 C T 11: 118,194,542 (GRCm39) D139N probably damaging Het
Trim69 A G 2: 122,009,322 (GRCm39) T461A probably benign Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Ubr4 T C 4: 139,206,373 (GRCm39) probably null Het
Ubr5 T C 15: 38,019,486 (GRCm39) D752G probably damaging Het
Urb1 A T 16: 90,580,264 (GRCm39) I633N possibly damaging Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Wdr6 G A 9: 108,452,968 (GRCm39) A305V probably damaging Het
Zfp248 T C 6: 118,406,527 (GRCm39) N253S probably damaging 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
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
R4578: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'- CTCCATGAATCGCATCCAGC -3'
(R):5'- GGAGAAGCACTCGTCATCAG -3'

Sequencing Primer
(F):5'- TGAATCGCATCCAGCAGCTG -3'
(R):5'- ACTCGTCATCAGCGCAG -3'
Posted On 2015-04-17