Incidental Mutation 'IGL01819:Fhl4'
ID154465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhl4
Ensembl Gene ENSMUSG00000050035
Gene Namefour and a half LIM domains 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL01819
Quality Score
Status
Chromosome10
Chromosomal Location85096287-85102495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85098870 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 16 (K16E)
Ref Sequence ENSEMBL: ENSMUSP00000150570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059383] [ENSMUST00000095383] [ENSMUST00000216771] [ENSMUST00000216889]
Predicted Effect probably damaging
Transcript: ENSMUST00000059383
AA Change: K16E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050054
Gene: ENSMUSG00000050035
AA Change: K16E

DomainStartEndE-ValueType
LIM 38 91 1.69e-12 SMART
LIM 99 152 1.1e-11 SMART
LIM 160 211 2e-14 SMART
LIM 219 275 9.31e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095383
SMART Domains Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935

DomainStartEndE-ValueType
Pfam:UPF0444 24 114 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216771
Predicted Effect probably damaging
Transcript: ENSMUST00000216889
AA Change: K16E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Fhl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02623:Fhl4 APN 10 85098171 missense probably damaging 1.00
PIT4382001:Fhl4 UTSW 10 85098429 missense possibly damaging 0.95
R0412:Fhl4 UTSW 10 85098816 missense possibly damaging 0.75
R0514:Fhl4 UTSW 10 85098386 missense probably damaging 1.00
R1953:Fhl4 UTSW 10 85098307 missense probably benign 0.00
R2567:Fhl4 UTSW 10 85098780 missense possibly damaging 0.91
R3434:Fhl4 UTSW 10 85098444 missense probably benign 0.00
R4489:Fhl4 UTSW 10 85098455 missense possibly damaging 0.76
R4512:Fhl4 UTSW 10 85098714 missense possibly damaging 0.93
R6588:Fhl4 UTSW 10 85098107 missense possibly damaging 0.50
R7699:Fhl4 UTSW 10 85098249 missense probably damaging 0.96
R7699:Fhl4 UTSW 10 85098515 missense probably benign 0.09
R8197:Fhl4 UTSW 10 85098237 missense probably damaging 1.00
R8371:Fhl4 UTSW 10 85098773 missense probably benign 0.37
Posted On2014-02-04