Incidental Mutation 'IGL02296:Fhdc1'
ID 290178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhdc1
Ensembl Gene ENSMUSG00000041842
Gene Name FH2 domain containing 1
Synonyms 6330505N24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.327) question?
Stock # IGL02296
Quality Score
Status
Chromosome 3
Chromosomal Location 84349505-84387736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84352042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1061 (A1061V)
Ref Sequence ENSEMBL: ENSMUSP00000103317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091002] [ENSMUST00000107689] [ENSMUST00000194027]
AlphaFold Q3ULZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000091002
AA Change: A1061V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: A1061V

DomainStartEndE-ValueType
low complexity region 30 48 N/A INTRINSIC
low complexity region 55 82 N/A INTRINSIC
FH2 88 538 5.13e-57 SMART
Blast:FH2 539 571 6e-6 BLAST
low complexity region 789 822 N/A INTRINSIC
low complexity region 962 976 N/A INTRINSIC
low complexity region 1009 1026 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107689
AA Change: A1061V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: A1061V

DomainStartEndE-ValueType
low complexity region 30 48 N/A INTRINSIC
low complexity region 55 82 N/A INTRINSIC
FH2 88 538 5.13e-57 SMART
Blast:FH2 539 571 6e-6 BLAST
low complexity region 789 822 N/A INTRINSIC
low complexity region 962 976 N/A INTRINSIC
low complexity region 1009 1026 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125643
Predicted Effect probably benign
Transcript: ENSMUST00000194027
SMART Domains Protein: ENSMUSP00000142030
Gene: ENSMUSG00000041842

DomainStartEndE-ValueType
Pfam:FH2 1 145 3.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,808,344 (GRCm39) R7S unknown Het
Acss3 A T 10: 106,889,312 (GRCm39) Y169* probably null Het
Anln T C 9: 22,283,483 (GRCm39) K450R possibly damaging Het
Armc10 A T 5: 21,865,631 (GRCm39) R225S probably benign Het
Cbfb T A 8: 105,905,312 (GRCm39) Y85N probably damaging Het
Col13a1 G T 10: 61,697,804 (GRCm39) probably benign Het
Dclk2 T C 3: 86,700,600 (GRCm39) I626V probably damaging Het
Epb41 G A 4: 131,731,065 (GRCm39) T172M probably benign Het
Glyat A T 19: 12,628,625 (GRCm39) D140V probably damaging Het
Hikeshi A T 7: 89,585,130 (GRCm39) F25I probably damaging Het
Ifi204 A G 1: 173,576,880 (GRCm39) Y574H possibly damaging Het
Kcnd3 C T 3: 105,574,317 (GRCm39) R501* probably null Het
Kdm4a T C 4: 118,034,662 (GRCm39) E23G probably damaging Het
Map3k19 C T 1: 127,751,983 (GRCm39) S456N probably damaging Het
Mgat4c A G 10: 102,221,021 (GRCm39) probably benign Het
Nup214 A G 2: 31,878,200 (GRCm39) N289S possibly damaging Het
Obsl1 G T 1: 75,474,793 (GRCm39) A674D possibly damaging Het
Or1e25 A T 11: 73,493,532 (GRCm39) N42I probably damaging Het
Or51i1 A T 7: 103,671,311 (GRCm39) probably null Het
Pak2 T C 16: 31,862,820 (GRCm39) probably null Het
Pde4a A T 9: 21,103,865 (GRCm39) N138I possibly damaging Het
Per1 A G 11: 68,993,001 (GRCm39) D286G probably damaging Het
Pramel23 G A 4: 143,425,051 (GRCm39) Q131* probably null Het
Prdx2 T A 8: 85,700,681 (GRCm39) D188E probably benign Het
Ptgis T C 2: 167,048,657 (GRCm39) K453R probably damaging Het
Radil A G 5: 142,492,218 (GRCm39) V470A probably benign Het
Rgs12 A G 5: 35,123,464 (GRCm39) S416G probably damaging Het
Rnf213 A G 11: 119,354,162 (GRCm39) H4013R probably benign Het
Ttc17 A G 2: 94,208,055 (GRCm39) L185P probably damaging Het
Ttn A G 2: 76,542,768 (GRCm39) I33406T probably damaging Het
Ube2e1 A G 14: 18,331,062 (GRCm38) probably benign Het
Other mutations in Fhdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Fhdc1 APN 3 84,356,107 (GRCm39) missense probably damaging 1.00
IGL00556:Fhdc1 APN 3 84,364,549 (GRCm39) missense possibly damaging 0.81
IGL00951:Fhdc1 APN 3 84,371,620 (GRCm39) missense possibly damaging 0.90
IGL01744:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01754:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01762:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01764:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01769:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01778:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01779:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL01781:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02243:Fhdc1 APN 3 84,381,947 (GRCm39) start codon destroyed possibly damaging 0.89
IGL02260:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02261:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02266:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02271:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02284:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02292:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02301:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02347:Fhdc1 APN 3 84,352,042 (GRCm39) missense possibly damaging 0.66
IGL02416:Fhdc1 APN 3 84,352,535 (GRCm39) missense probably benign 0.03
IGL03189:Fhdc1 APN 3 84,362,368 (GRCm39) intron probably benign
IGL03392:Fhdc1 APN 3 84,351,826 (GRCm39) missense possibly damaging 0.55
R0125:Fhdc1 UTSW 3 84,352,852 (GRCm39) missense probably benign
R0135:Fhdc1 UTSW 3 84,352,925 (GRCm39) missense probably damaging 0.97
R0255:Fhdc1 UTSW 3 84,360,817 (GRCm39) intron probably benign
R0401:Fhdc1 UTSW 3 84,351,931 (GRCm39) missense probably benign 0.02
R1371:Fhdc1 UTSW 3 84,352,310 (GRCm39) missense probably damaging 1.00
R1727:Fhdc1 UTSW 3 84,353,483 (GRCm39) missense possibly damaging 0.50
R1769:Fhdc1 UTSW 3 84,356,085 (GRCm39) missense probably damaging 1.00
R1781:Fhdc1 UTSW 3 84,356,111 (GRCm39) missense probably damaging 0.99
R1840:Fhdc1 UTSW 3 84,353,128 (GRCm39) missense possibly damaging 0.46
R1970:Fhdc1 UTSW 3 84,362,158 (GRCm39) missense probably damaging 1.00
R2038:Fhdc1 UTSW 3 84,351,868 (GRCm39) missense probably benign 0.22
R2088:Fhdc1 UTSW 3 84,382,033 (GRCm39) start gained probably benign
R2256:Fhdc1 UTSW 3 84,353,353 (GRCm39) missense probably benign
R2939:Fhdc1 UTSW 3 84,364,577 (GRCm39) missense possibly damaging 0.47
R3813:Fhdc1 UTSW 3 84,371,577 (GRCm39) critical splice donor site probably null
R4022:Fhdc1 UTSW 3 84,352,409 (GRCm39) missense probably benign 0.01
R4175:Fhdc1 UTSW 3 84,364,294 (GRCm39) intron probably benign
R4243:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4245:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4290:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4291:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4292:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4293:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4294:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4295:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4334:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4335:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4342:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4344:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4354:Fhdc1 UTSW 3 84,352,133 (GRCm39) missense probably benign 0.42
R4550:Fhdc1 UTSW 3 84,352,483 (GRCm39) missense probably benign 0.16
R4626:Fhdc1 UTSW 3 84,381,557 (GRCm39) missense probably damaging 1.00
R4925:Fhdc1 UTSW 3 84,360,840 (GRCm39) missense probably damaging 1.00
R5155:Fhdc1 UTSW 3 84,353,457 (GRCm39) missense probably benign 0.00
R5588:Fhdc1 UTSW 3 84,372,783 (GRCm39) missense possibly damaging 0.91
R6043:Fhdc1 UTSW 3 84,356,193 (GRCm39) missense probably damaging 0.96
R6063:Fhdc1 UTSW 3 84,353,336 (GRCm39) missense probably benign 0.00
R6652:Fhdc1 UTSW 3 84,371,631 (GRCm39) missense probably damaging 1.00
R6706:Fhdc1 UTSW 3 84,353,729 (GRCm39) missense probably damaging 1.00
R6783:Fhdc1 UTSW 3 84,352,834 (GRCm39) missense probably benign 0.00
R6984:Fhdc1 UTSW 3 84,351,823 (GRCm39) missense possibly damaging 0.93
R7182:Fhdc1 UTSW 3 84,356,157 (GRCm39) missense probably damaging 0.98
R7299:Fhdc1 UTSW 3 84,351,847 (GRCm39) missense probably damaging 1.00
R7574:Fhdc1 UTSW 3 84,353,438 (GRCm39) missense probably benign
R7765:Fhdc1 UTSW 3 84,351,906 (GRCm39) missense probably benign 0.04
R8013:Fhdc1 UTSW 3 84,381,946 (GRCm39) start codon destroyed probably null 0.99
R8014:Fhdc1 UTSW 3 84,381,946 (GRCm39) start codon destroyed probably null 0.99
R8139:Fhdc1 UTSW 3 84,358,790 (GRCm39) missense probably damaging 1.00
R8264:Fhdc1 UTSW 3 84,362,339 (GRCm39) missense probably damaging 1.00
R8384:Fhdc1 UTSW 3 84,362,306 (GRCm39) missense possibly damaging 0.91
R8901:Fhdc1 UTSW 3 84,352,874 (GRCm39) missense probably benign
R9091:Fhdc1 UTSW 3 84,352,290 (GRCm39) missense unknown
R9270:Fhdc1 UTSW 3 84,352,290 (GRCm39) missense unknown
R9361:Fhdc1 UTSW 3 84,356,140 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16