Incidental Mutation 'R6075:Gm6526'
ID 482716
Institutional Source Beutler Lab
Gene Symbol Gm6526
Ensembl Gene ENSMUSG00000091698
Gene Name predicted gene 6526
Synonyms
MMRRC Submission 044236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R6075 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 43985323-43993405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43986331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 86 (I86V)
Ref Sequence ENSEMBL: ENSMUSP00000098208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100643] [ENSMUST00000179860]
AlphaFold G3X9Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000100643
AA Change: I86V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098208
Gene: ENSMUSG00000091698
AA Change: I86V

DomainStartEndE-ValueType
Pfam:Takusan 48 128 2.3e-26 PFAM
coiled coil region 148 177 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179860
AA Change: I89V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136216
Gene: ENSMUSG00000091698
AA Change: I89V

DomainStartEndE-ValueType
Pfam:Takusan 49 132 2.8e-35 PFAM
coiled coil region 151 180 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Areg A T 5: 91,291,456 (GRCm39) K133M probably damaging Het
Atxn2l A T 7: 126,091,689 (GRCm39) D1076E possibly damaging Het
Barhl1 T C 2: 28,805,231 (GRCm39) Y154C probably damaging Het
BC048507 A G 13: 68,011,823 (GRCm39) T67A probably benign Het
Cacna1g T A 11: 94,307,491 (GRCm39) I1746F probably damaging Het
Ccdc34 T C 2: 109,874,580 (GRCm39) I313T possibly damaging Het
Cma1 T A 14: 56,179,771 (GRCm39) I138F probably damaging Het
Col5a2 A G 1: 45,542,008 (GRCm39) S23P unknown Het
Csmd2 C A 4: 128,380,658 (GRCm39) S2071R probably benign Het
Cyp2j11 T G 4: 96,233,322 (GRCm39) N125H probably benign Het
Dchs2 A G 3: 83,262,368 (GRCm39) R2879G possibly damaging Het
Dnah11 A T 12: 118,068,586 (GRCm39) C1591S probably damaging Het
Dock9 C T 14: 121,783,385 (GRCm39) R2038H probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo21 G A 5: 118,126,948 (GRCm39) R233H probably damaging Het
Firrm T C 1: 163,805,656 (GRCm39) Y316C probably damaging Het
Gpr107 T A 2: 31,042,384 (GRCm39) V5E probably benign Het
Hat1 A T 2: 71,240,585 (GRCm39) D93V probably benign Het
Kctd21 T A 7: 96,996,614 (GRCm39) L29Q probably damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Lsamp A G 16: 41,954,788 (GRCm39) K229E probably benign Het
Mcm5 A G 8: 75,840,825 (GRCm39) D210G probably damaging Het
Mdn1 T C 4: 32,689,581 (GRCm39) V930A possibly damaging Het
Megf6 T A 4: 154,347,056 (GRCm39) C652* probably null Het
Nae1 A T 8: 105,251,001 (GRCm39) L196H possibly damaging Het
Ncor1 G T 11: 62,208,675 (GRCm39) D156E probably damaging Het
Nop14 A T 5: 34,817,235 (GRCm39) V52E probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Parp14 A T 16: 35,677,389 (GRCm39) C860S probably damaging Het
Ptpn4 T C 1: 119,692,866 (GRCm39) Y161C probably damaging Het
Ptpn9 T A 9: 56,968,430 (GRCm39) M590K probably benign Het
Ptprq A G 10: 107,361,621 (GRCm39) I2130T probably damaging Het
Pudp C A 18: 50,701,299 (GRCm39) G145W probably damaging Het
Pxk A G 14: 8,150,964 (GRCm38) K423R probably benign Het
Ryr1 A G 7: 28,786,863 (GRCm39) S1584P probably damaging Het
Scap G A 9: 110,207,845 (GRCm39) R518H probably damaging Het
Slc5a12 T C 2: 110,447,092 (GRCm39) L200P probably damaging Het
Sntg1 T A 1: 8,749,338 (GRCm39) *72Y probably null Het
Speer4f1 A C 5: 17,684,482 (GRCm39) Q170P possibly damaging Het
Taar7d A C 10: 23,903,558 (GRCm39) I147L probably benign Het
Tet2 T C 3: 133,177,196 (GRCm39) K1284E possibly damaging Het
Trpm2 A C 10: 77,770,877 (GRCm39) probably null Het
Washc2 T A 6: 116,204,327 (GRCm39) S412T probably benign Het
Zfyve26 A G 12: 79,340,628 (GRCm39) V82A possibly damaging Het
Other mutations in Gm6526
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02367:Gm6526 APN 14 43,988,262 (GRCm39) missense probably damaging 1.00
R1473:Gm6526 UTSW 14 43,986,303 (GRCm39) missense probably damaging 1.00
R1526:Gm6526 UTSW 14 43,987,394 (GRCm39) missense probably damaging 0.98
R4418:Gm6526 UTSW 14 43,986,302 (GRCm39) missense probably damaging 1.00
R9716:Gm6526 UTSW 14 43,988,309 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GGCCATCAACTATGCAAATGC -3'
(R):5'- CCAGCTGTTGACAGAACCAATC -3'

Posted On 2017-07-14