Incidental Mutation 'R5995:Gm7247'
ID481085
Institutional Source Beutler Lab
Gene Symbol Gm7247
Ensembl Gene ENSMUSG00000068399
Gene Namepredicted gene 7247
Synonyms
MMRRC Submission 044174-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #R5995 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location51361756-51569982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 51364348 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 26 (S26F)
Ref Sequence ENSEMBL: ENSMUSP00000125409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162998]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162079
Predicted Effect probably benign
Transcript: ENSMUST00000162998
AA Change: S26F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
AA Change: S26F

DomainStartEndE-ValueType
Pfam:Takusan 35 115 2.2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228571
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,400,139 R108C possibly damaging Het
Adgrb2 C A 4: 130,017,103 A1104E probably damaging Het
Adgrv1 A G 13: 81,466,259 V4005A probably benign Het
Bend6 T C 1: 33,878,439 probably null Het
Brwd1 A T 16: 96,064,787 V265E probably damaging Het
Ccdc96 A G 5: 36,486,374 I575V probably damaging Het
Cd109 A T 9: 78,700,279 I1094L probably benign Het
Cd44 A G 2: 102,861,670 V91A probably damaging Het
Cdv3 C G 9: 103,364,003 G122R probably damaging Het
Ces2c T A 8: 104,850,901 V272D possibly damaging Het
Colgalt1 T A 8: 71,623,110 M467K probably damaging Het
Crtam G A 9: 40,994,540 T31M possibly damaging Het
Cyp7a1 C T 4: 6,272,371 V281M possibly damaging Het
Dnah7a A T 1: 53,620,670 N726K probably benign Het
Dok6 T C 18: 89,421,018 E232G possibly damaging Het
Gm12185 T C 11: 48,915,713 E217G probably benign Het
Gria1 A T 11: 57,289,285 Y618F probably damaging Het
H2-T22 A G 17: 36,041,485 Y183H probably benign Het
Hace1 A T 10: 45,670,391 I374L probably benign Het
Hif3a T A 7: 17,053,769 T132S probably benign Het
Hoxa3 T A 6: 52,170,283 probably benign Het
Il27 A C 7: 126,589,363 probably benign Het
Kdelc2 T C 9: 53,395,895 Y380H probably damaging Het
Klhdc1 T C 12: 69,250,774 Y40H probably damaging Het
Klhl33 T G 14: 50,892,651 E462A possibly damaging Het
Myh10 T C 11: 68,814,983 I1979T probably benign Het
Nfkbil1 G T 17: 35,220,798 F246L probably benign Het
Nlrp1b A T 11: 71,181,746 F424I probably damaging Het
Nod1 A G 6: 54,944,554 Y260H probably damaging Het
Ofcc1 A G 13: 40,280,422 L69P probably damaging Het
Olfr1110 T C 2: 87,135,856 N155S probably damaging Het
Olfr1419 A T 19: 11,870,862 I118N possibly damaging Het
Olfr1446 A C 19: 12,890,597 probably null Het
Olfr385 T C 11: 73,589,250 I163V probably benign Het
Olfr968 A G 9: 39,772,692 V36A probably benign Het
Olfr98 C A 17: 37,263,648 Q5H probably benign Het
Onecut2 G T 18: 64,341,548 R390L probably damaging Het
Oprm1 A C 10: 6,832,520 M388L probably benign Het
Pcdhgc5 T A 18: 37,821,060 Y462* probably null Het
Pex1 T A 5: 3,607,704 M425K possibly damaging Het
Plec A T 15: 76,185,905 Y1001N probably damaging Het
Pou2f2 T G 7: 25,097,444 K236Q probably damaging Het
Rbm20 G A 19: 53,851,267 E896K possibly damaging Het
Sh3tc2 T A 18: 61,990,010 L614Q probably damaging Het
Skint5 T A 4: 113,893,832 I339F unknown Het
Slc2a7 T C 4: 150,168,340 I479T probably damaging Het
Snrk A G 9: 122,157,222 N219S probably damaging Het
Supt20 T C 3: 54,709,053 S245P probably damaging Het
Ttn A G 2: 76,761,292 I21011T probably damaging Het
Vmn2r11 T A 5: 109,047,055 I802F probably damaging Het
Vmn2r92 T C 17: 18,168,951 probably null Het
Ythdc2 T A 18: 44,886,253 M1363K probably damaging Het
Zan T C 5: 137,378,809 probably benign Het
Zfp521 C A 18: 13,717,624 C1261F probably damaging Het
Zfp980 A T 4: 145,701,909 K403* probably null Het
Other mutations in Gm7247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Gm7247 APN 14 51523505 missense possibly damaging 0.73
IGL01776:Gm7247 APN 14 51521899 missense possibly damaging 0.86
IGL01836:Gm7247 APN 14 51365396 missense probably damaging 1.00
IGL02270:Gm7247 APN 14 51521884 missense probably benign 0.10
IGL02961:Gm7247 APN 14 51365355 missense probably damaging 1.00
IGL03390:Gm7247 APN 14 51523457 missense probably benign
R0054:Gm7247 UTSW 14 51569600 utr 3 prime probably benign
R0413:Gm7247 UTSW 14 51523472 missense probably benign 0.33
R1143:Gm7247 UTSW 14 51523418 missense probably benign 0.33
R2018:Gm7247 UTSW 14 51365347 missense possibly damaging 0.60
R2019:Gm7247 UTSW 14 51365347 missense possibly damaging 0.60
R2117:Gm7247 UTSW 14 51365335 missense probably damaging 0.99
R3971:Gm7247 UTSW 14 51365384 missense probably damaging 1.00
R4649:Gm7247 UTSW 14 51569594 critical splice acceptor site probably null
R5109:Gm7247 UTSW 14 51365317 missense probably damaging 0.98
R5773:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5775:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5776:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5994:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5996:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6008:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6009:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6010:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6011:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6193:Gm7247 UTSW 14 51521842 missense possibly damaging 0.89
R6986:Gm7247 UTSW 14 51365375 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCCTTCCTTGGAAAATCTCCTG -3'
(R):5'- CCTGCCTCTGTCAAATGAATTGTC -3'

Sequencing Primer
(F):5'- CCTTGGAAAATCTCCTGTATCTAGG -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
Posted On2017-06-26