Incidental Mutation 'R1140:Fastkd5'
ID102015
Institutional Source Beutler Lab
Gene Symbol Fastkd5
Ensembl Gene ENSMUSG00000079043
Gene NameFAST kinase domains 5
Synonyms
MMRRC Submission 039213-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.797) question?
Stock #R1140 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location130613840-130630027 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 130616215 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 152 (V152I)
Ref Sequence ENSEMBL: ENSMUSP00000137385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028761] [ENSMUST00000110262] [ENSMUST00000140581] [ENSMUST00000179273]
Predicted Effect probably benign
Transcript: ENSMUST00000028761
SMART Domains Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300

DomainStartEndE-ValueType
Ubox 262 331 4.47e-15 SMART
low complexity region 371 395 N/A INTRINSIC
RING 481 525 3.14e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110262
AA Change: V152I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: V152I

DomainStartEndE-ValueType
Pfam:FAST_1 475 544 6e-22 PFAM
Pfam:FAST_2 555 646 7.2e-25 PFAM
RAP 742 801 6.92e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140581
AA Change: V152I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: V152I

DomainStartEndE-ValueType
Pfam:FAST_1 474 546 2.6e-27 PFAM
Pfam:FAST_2 553 598 2.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179273
AA Change: V152I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: V152I

DomainStartEndE-ValueType
Pfam:FAST_1 474 546 1.5e-26 PFAM
Pfam:FAST_2 553 646 4.4e-29 PFAM
RAP 742 801 6.92e-14 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik T A 8: 120,150,135 S161T probably damaging Het
Ahnak T A 19: 9,004,245 D964E probably damaging Het
Aldh18a1 T C 19: 40,574,285 I215V probably benign Het
Arfgef3 T A 10: 18,597,348 I1656F possibly damaging Het
Aurka T C 2: 172,357,229 D285G probably damaging Het
Cep83 A G 10: 94,737,890 K214E probably damaging Het
Dis3l2 A T 1: 86,821,438 T209S probably benign Het
Dock7 A G 4: 99,065,406 M363T possibly damaging Het
Dsc2 C A 18: 20,032,212 K901N probably damaging Het
Fam234b A T 6: 135,225,758 H370L probably benign Het
Fanca A C 8: 123,313,129 probably null Het
Fndc1 T C 17: 7,775,426 R337G unknown Het
Fsip2 T A 2: 82,975,034 Y566N probably damaging Het
Gsc A T 12: 104,473,102 M5K probably damaging Het
Muc5b A G 7: 141,858,996 E1893G unknown Het
Myh7 T C 14: 54,972,882 T1789A probably damaging Het
Npr2 A G 4: 43,648,353 T884A possibly damaging Het
Olfr389 T A 11: 73,776,854 M158L probably benign Het
Parg T C 14: 32,296,243 S432P probably benign Het
Ptdss1 T C 13: 66,963,356 V162A probably benign Het
Samsn1 C T 16: 75,888,742 E43K possibly damaging Het
Sis C T 3: 72,951,616 V361I probably damaging Het
Speg A T 1: 75,429,095 N2981I probably damaging Het
Stk32c C T 7: 139,125,179 R23Q probably damaging Het
Taok3 T C 5: 117,228,053 S231P possibly damaging Het
Tbc1d2b A G 9: 90,226,376 V374A possibly damaging Het
Xxylt1 T A 16: 31,007,848 probably null Het
Other mutations in Fastkd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Fastkd5 APN 2 130616377 missense probably benign 0.14
IGL01148:Fastkd5 APN 2 130614685 missense probably benign
IGL01765:Fastkd5 APN 2 130615734 missense possibly damaging 0.95
IGL01806:Fastkd5 APN 2 130615612 missense probably benign 0.02
IGL02266:Fastkd5 APN 2 130615561 missense probably damaging 1.00
IGL02879:Fastkd5 APN 2 130614421 missense probably damaging 0.97
R0504:Fastkd5 UTSW 2 130615917 missense probably benign 0.08
R0544:Fastkd5 UTSW 2 130615296 missense probably damaging 1.00
R1459:Fastkd5 UTSW 2 130614797 missense probably damaging 0.97
R1770:Fastkd5 UTSW 2 130614280 missense probably damaging 1.00
R2519:Fastkd5 UTSW 2 130616194 missense possibly damaging 0.56
R2566:Fastkd5 UTSW 2 130616365 missense probably benign 0.00
R3080:Fastkd5 UTSW 2 130615453 missense possibly damaging 0.89
R4496:Fastkd5 UTSW 2 130616581 missense probably benign 0.01
R5566:Fastkd5 UTSW 2 130614301 missense possibly damaging 0.88
R6516:Fastkd5 UTSW 2 130614301 missense possibly damaging 0.88
R6993:Fastkd5 UTSW 2 130616539 missense probably benign
R7032:Fastkd5 UTSW 2 130615944 missense possibly damaging 0.92
R7049:Fastkd5 UTSW 2 130615511 missense probably damaging 1.00
R7051:Fastkd5 UTSW 2 130614417 missense probably damaging 1.00
R7331:Fastkd5 UTSW 2 130615727 missense possibly damaging 0.79
R7348:Fastkd5 UTSW 2 130615135 missense probably damaging 1.00
R7348:Fastkd5 UTSW 2 130616439 missense probably benign 0.00
R7524:Fastkd5 UTSW 2 130616128 missense probably benign 0.41
R7603:Fastkd5 UTSW 2 130615041 missense possibly damaging 0.95
R7657:Fastkd5 UTSW 2 130616256 missense probably benign 0.00
R7745:Fastkd5 UTSW 2 130615068 missense probably damaging 1.00
R7912:Fastkd5 UTSW 2 130616637 missense probably damaging 0.97
R7993:Fastkd5 UTSW 2 130616637 missense probably damaging 0.97
R8140:Fastkd5 UTSW 2 130615250 missense possibly damaging 0.89
X0018:Fastkd5 UTSW 2 130616612 missense possibly damaging 0.46
Predicted Primers
Posted On2014-01-15