Incidental Mutation 'R3033:Gm5414'
ID 263357
Institutional Source Beutler Lab
Gene Symbol Gm5414
Ensembl Gene ENSMUSG00000064232
Gene Name predicted gene 5414
Synonyms
MMRRC Submission 040549-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R3033 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101532463-101536623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101533044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 461 (E461G)
Ref Sequence ENSEMBL: ENSMUSP00000059101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062879]
AlphaFold Q6IFZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000062879
AA Change: E461G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: E461G

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 148 3.3e-29 PFAM
Filament 151 464 1.4e-143 SMART
low complexity region 489 507 N/A INTRINSIC
low complexity region 511 549 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,184,227 (GRCm39) D591G probably benign Het
Aqp4 T A 18: 15,526,617 (GRCm39) E288V possibly damaging Het
Astn2 T C 4: 65,562,943 (GRCm39) Y894C probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Dennd4c AGGAGCTCCTGGAGC AGGAGC 4: 86,743,557 (GRCm39) probably benign Het
Dnah6 T C 6: 73,150,333 (GRCm39) D810G probably benign Het
Dst T C 1: 34,191,366 (GRCm39) I222T probably damaging Het
Eif4g3 A T 4: 137,830,721 (GRCm39) T159S probably damaging Het
Ercc5 A G 1: 44,219,734 (GRCm39) E1002G possibly damaging Het
Heatr5a A T 12: 51,997,821 (GRCm39) C359* probably null Het
Ift88 G A 14: 57,715,501 (GRCm39) D515N probably damaging Het
Kmt2a A G 9: 44,733,160 (GRCm39) probably benign Het
Lypd8 T C 11: 58,275,453 (GRCm39) Y63H probably damaging Het
Mcm3 A T 1: 20,878,992 (GRCm39) Y594N probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Naip1 T C 13: 100,568,966 (GRCm39) M322V probably benign Het
Neurl2 T C 2: 164,674,975 (GRCm39) E129G probably benign Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rapgef2 A G 3: 78,981,613 (GRCm39) probably null Het
Selenbp1 T C 3: 94,845,351 (GRCm39) V149A probably benign Het
Smg9 A G 7: 24,115,949 (GRCm39) D280G probably damaging Het
Tlr1 T C 5: 65,082,912 (GRCm39) D555G probably damaging Het
Tomm70a G A 16: 56,942,388 (GRCm39) G55D probably damaging Het
Tpte T A 8: 22,810,888 (GRCm39) S182T possibly damaging Het
Zfp58 T C 13: 67,639,741 (GRCm39) E250G probably damaging Het
Other mutations in Gm5414
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm5414 APN 15 101,536,569 (GRCm39) missense probably benign 0.00
IGL01774:Gm5414 APN 15 101,535,410 (GRCm39) missense probably benign 0.13
IGL01939:Gm5414 APN 15 101,534,105 (GRCm39) splice site probably benign
IGL02205:Gm5414 APN 15 101,534,304 (GRCm39) missense probably benign 0.44
IGL02411:Gm5414 APN 15 101,536,269 (GRCm39) missense probably benign 0.05
IGL02720:Gm5414 APN 15 101,533,990 (GRCm39) missense probably damaging 1.00
IGL02900:Gm5414 APN 15 101,536,242 (GRCm39) missense probably damaging 0.99
IGL03283:Gm5414 APN 15 101,535,522 (GRCm39) missense probably damaging 1.00
PIT4480001:Gm5414 UTSW 15 101,536,181 (GRCm39) missense probably damaging 1.00
PIT4504001:Gm5414 UTSW 15 101,534,258 (GRCm39) missense probably damaging 0.98
R1905:Gm5414 UTSW 15 101,533,075 (GRCm39) missense probably damaging 1.00
R2070:Gm5414 UTSW 15 101,536,495 (GRCm39) missense possibly damaging 0.52
R3011:Gm5414 UTSW 15 101,534,047 (GRCm39) missense probably damaging 1.00
R4074:Gm5414 UTSW 15 101,533,988 (GRCm39) missense probably benign
R4257:Gm5414 UTSW 15 101,533,107 (GRCm39) missense probably damaging 1.00
R4396:Gm5414 UTSW 15 101,534,101 (GRCm39) missense probably damaging 1.00
R4648:Gm5414 UTSW 15 101,536,543 (GRCm39) missense possibly damaging 0.72
R4912:Gm5414 UTSW 15 101,533,445 (GRCm39) missense possibly damaging 0.46
R5095:Gm5414 UTSW 15 101,532,473 (GRCm39) missense probably benign 0.01
R5135:Gm5414 UTSW 15 101,536,203 (GRCm39) missense probably damaging 0.97
R5177:Gm5414 UTSW 15 101,534,252 (GRCm39) missense possibly damaging 0.91
R5330:Gm5414 UTSW 15 101,533,099 (GRCm39) missense probably damaging 1.00
R5331:Gm5414 UTSW 15 101,533,099 (GRCm39) missense probably damaging 1.00
R5432:Gm5414 UTSW 15 101,533,069 (GRCm39) missense probably damaging 1.00
R5521:Gm5414 UTSW 15 101,536,422 (GRCm39) missense probably benign 0.33
R5623:Gm5414 UTSW 15 101,534,246 (GRCm39) missense probably damaging 1.00
R6781:Gm5414 UTSW 15 101,534,096 (GRCm39) missense possibly damaging 0.91
R8298:Gm5414 UTSW 15 101,532,605 (GRCm39) missense unknown
R8912:Gm5414 UTSW 15 101,536,620 (GRCm39) missense possibly damaging 0.94
R9092:Gm5414 UTSW 15 101,536,345 (GRCm39) missense probably benign 0.01
R9721:Gm5414 UTSW 15 101,536,582 (GRCm39) nonsense probably null
RF001:Gm5414 UTSW 15 101,536,388 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGTCAATCTCCATGGGAAC -3'
(R):5'- TGCAGAGATGCACACTCCAC -3'

Sequencing Primer
(F):5'- GGAACCCTCAATCTTGTGAAGG -3'
(R):5'- GCCAACCTGCAAGCTGCTATTG -3'
Posted On 2015-02-05