Incidental Mutation 'R1426:Elovl7'
ID162259
Institutional Source Beutler Lab
Gene Symbol Elovl7
Ensembl Gene ENSMUSG00000021696
Gene NameELOVL family member 7, elongation of long chain fatty acids (yeast)
Synonyms
MMRRC Submission 039482-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #R1426 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location108214404-108285683 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108282494 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 220 (I220N)
Ref Sequence ENSEMBL: ENSMUSP00000022207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022207] [ENSMUST00000225550]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022207
AA Change: I220N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022207
Gene: ENSMUSG00000021696
AA Change: I220N

DomainStartEndE-ValueType
Pfam:ELO 29 269 2.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225550
Meta Mutation Damage Score 0.082 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.1%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,324,435 V214E probably damaging Het
Adh1 A G 3: 138,286,795 D224G probably damaging Het
Arhgap28 C A 17: 67,857,464 Q554H probably damaging Het
Atp8a2 T C 14: 59,860,270 K770E probably benign Het
Brat1 G A 5: 140,718,013 V674I probably benign Het
Brd2 ATCTTCTTC ATCTTC 17: 34,114,007 probably benign Het
Ccdc162 T C 10: 41,553,182 D438G possibly damaging Het
Cyp4x1 T A 4: 115,112,791 probably benign Het
Dip2a T C 10: 76,279,820 probably benign Het
Eif2s1 A G 12: 78,881,168 D206G probably benign Het
Gsto1 A G 19: 47,857,942 E76G probably damaging Het
Hspa14 A T 2: 3,508,821 W12R probably damaging Het
L3mbtl2 T A 15: 81,676,317 C260S possibly damaging Het
Lama3 G T 18: 12,481,098 probably null Het
Lrrc34 T A 3: 30,643,579 probably benign Het
Lrrc45 A T 11: 120,720,013 Q525L probably benign Het
Lss T C 10: 76,536,303 I164T probably damaging Het
Myh11 T A 16: 14,205,931 K1527* probably null Het
Naip2 T C 13: 100,161,854 E558G probably benign Het
Naip2 C T 13: 100,161,860 G556D probably benign Het
Ncoa1 T A 12: 4,270,737 probably benign Het
Olfr262 G T 19: 12,241,182 Q160K possibly damaging Het
Olfr768 A T 10: 129,093,690 C95S probably damaging Het
Pafah1b3 T C 7: 25,297,135 E41G possibly damaging Het
Pnmal1 C T 7: 16,960,984 P255S possibly damaging Het
Prkar2b A T 12: 31,962,988 probably benign Het
Rbck1 A T 2: 152,327,241 probably benign Het
Rcor2 A G 19: 7,271,030 S137G possibly damaging Het
Slc25a48 T A 13: 56,448,991 probably benign Het
Slc7a4 A G 16: 17,573,944 probably null Het
Tert T C 13: 73,642,353 probably benign Het
Traf7 A T 17: 24,511,681 I344N probably damaging Het
Vmn1r194 T A 13: 22,245,066 F284L probably damaging Het
Xpc A G 6: 91,493,238 M699T probably damaging Het
Zbtb5 T C 4: 44,993,968 H472R possibly damaging Het
Zfp786 A G 6: 47,825,079 V88A probably benign Het
Zkscan7 T C 9: 122,895,163 I399T probably benign Het
Zyg11b G A 4: 108,250,812 R466C probably damaging Het
Other mutations in Elovl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Elovl7 APN 13 108274320 missense probably damaging 0.99
IGL01901:Elovl7 APN 13 108274393 critical splice donor site probably null
R1346:Elovl7 UTSW 13 108274349 missense probably benign 0.02
R1677:Elovl7 UTSW 13 108282626 missense probably damaging 1.00
R4163:Elovl7 UTSW 13 108267370 missense possibly damaging 0.61
R4207:Elovl7 UTSW 13 108282506 missense possibly damaging 0.76
R5000:Elovl7 UTSW 13 108274381 missense probably benign 0.38
R5467:Elovl7 UTSW 13 108279622 missense probably benign 0.12
R7186:Elovl7 UTSW 13 108271848 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCACTGAATATTGGTCCCAAACCC -3'
(R):5'- TCCAGGCTCTTCCACTGAGAAGAC -3'

Sequencing Primer
(F):5'- TAAATTTGACACCGTACCTAACCTG -3'
(R):5'- AGCTTTGGACTCTCAGAGATCAG -3'
Posted On2014-03-14