Incidental Mutation 'IGL02623:Fhl4'
ID300938
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: 0.088) question?
Stock #IGL02623
Quality Score
Status
Chromosome10
Chromosomal Location85096287-85102495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85098171 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 249 (F249L)
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: F249L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050054
Gene: ENSMUSG00000050035
AA Change: F249L

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: F249L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Hspa12a T A 19: 58,809,551 Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Mindy3 G A 2: 12,364,483 Q142* probably null Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Optn T C 2: 5,035,022 E318G probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Parva A G 7: 112,576,439 D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Rbbp8nl T A 2: 180,281,443 S154C probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 probably null Het
Zxdc G T 6: 90,382,370 K661N probably damaging Het
Other mutations in Fhl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Fhl4 APN 10 85098870 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 On2015-04-16