Incidental Mutation 'R4290:Fhdc1'
ID 322988
Institutional Source Beutler Lab
Gene Symbol Fhdc1
Ensembl Gene ENSMUSG00000041842
Gene Name FH2 domain containing 1
Synonyms 6330505N24Rik
MMRRC Submission 041655-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.327) question?
Stock # R4290 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 84349505-84387736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84352133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1031 (V1031F)
Ref Sequence ENSEMBL: ENSMUSP00000103317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091002] [ENSMUST00000107689] [ENSMUST00000194027]
AlphaFold Q3ULZ2
Predicted Effect probably benign
Transcript: ENSMUST00000091002
AA Change: V1031F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: V1031F

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 probably benign
Transcript: ENSMUST00000107689
AA Change: V1031F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: V1031F

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
Meta Mutation Damage Score 0.0644 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
En1 C A 1: 120,531,486 (GRCm39) A242E unknown Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Il19 T A 1: 130,862,750 (GRCm39) T58S possibly damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Itga5 C T 15: 103,260,684 (GRCm39) probably null Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2aj4 A T 16: 19,384,994 (GRCm39) M213K possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttc19 A G 11: 62,176,753 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGTCCTTGGAGGCAGAATC -3'
(R):5'- GAGGAACTTCGGACACTTCG -3'

Sequencing Primer
(F):5'- AGAATCCTCGGAGCCACCTTTG -3'
(R):5'- TCGAGTGGCAGCATCAGTG -3'
Posted On 2015-06-20