Incidental Mutation 'IGL02292:Fhdc1'
ID 290071
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 # IGL02292
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,263,982 (GRCm39) M51V probably benign Het
Abcb5 C T 12: 118,881,932 (GRCm39) G599D probably damaging Het
Aim2 T A 1: 173,289,840 (GRCm39) I261N probably benign Het
Alpk3 A G 7: 80,727,653 (GRCm39) H261R possibly damaging Het
Ankrd12 G A 17: 66,349,582 (GRCm39) H84Y probably damaging Het
Ankrd17 T C 5: 90,400,718 (GRCm39) probably benign Het
Apc2 C T 10: 80,138,258 (GRCm39) P139S possibly damaging Het
Cct7 A G 6: 85,438,091 (GRCm39) Y111C probably benign Het
Cd226 G A 18: 89,225,216 (GRCm39) V38I possibly damaging Het
Cdh3 A G 8: 107,271,833 (GRCm39) Y582C probably damaging Het
Csmd1 T C 8: 16,261,884 (GRCm39) D871G probably damaging Het
Cyp4a31 A T 4: 115,423,698 (GRCm39) N133I probably damaging Het
Fem1b T C 9: 62,703,977 (GRCm39) I428V probably benign Het
Flrt3 G A 2: 140,502,045 (GRCm39) P528S probably damaging Het
Gm9476 A C 10: 100,143,046 (GRCm39) noncoding transcript Het
Itgae T C 11: 73,009,361 (GRCm39) I515T probably damaging Het
Itih1 T A 14: 30,655,312 (GRCm39) probably null Het
Map3k4 A G 17: 12,454,045 (GRCm39) V1419A possibly damaging Het
Mfsd6l A T 11: 68,448,576 (GRCm39) I476L probably benign Het
Mrpl2 T C 17: 46,959,157 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,917,729 (GRCm39) L314P probably damaging Het
Msto1 C A 3: 88,819,131 (GRCm39) R205S probably benign Het
Myh9 A T 15: 77,692,196 (GRCm39) I121N probably damaging Het
Omt2a G A 9: 78,220,621 (GRCm39) R20C possibly damaging Het
Or4c11b G A 2: 88,625,631 (GRCm39) V302I probably benign Het
Pdpr G A 8: 111,852,312 (GRCm39) V560I probably damaging Het
Rimkla A T 4: 119,325,549 (GRCm39) C287S probably damaging Het
Shcbp1l T A 1: 153,311,891 (GRCm39) probably benign Het
Tm7sf2 T A 19: 6,113,598 (GRCm39) K111I probably damaging Het
Tnfrsf21 A G 17: 43,350,802 (GRCm39) E322G probably benign Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Zbtb20 T A 16: 43,431,011 (GRCm39) Y507* probably null 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
IGL02296: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