Incidental Mutation 'R4175:Fhdc1'
ID 318252
Institutional Source Beutler Lab
Gene Symbol Fhdc1
Ensembl Gene ENSMUSG00000041842
Gene Name FH2 domain containing 1
Synonyms 6330505N24Rik
MMRRC Submission 041013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.327) question?
Stock # R4175 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 84349505-84387736 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 84364294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091002] [ENSMUST00000091002] [ENSMUST00000107689] [ENSMUST00000107689] [ENSMUST00000194027]
AlphaFold Q3ULZ2
Predicted Effect probably benign
Transcript: ENSMUST00000091002
SMART Domains Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842

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: ENSMUST00000091002
SMART Domains Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842

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
SMART Domains Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842

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
SMART Domains Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (46/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd63 T C 2: 118,533,100 (GRCm39) M274V probably benign Het
Ano6 A T 15: 95,860,050 (GRCm39) D724V probably damaging Het
Apobec3 A G 15: 79,779,653 (GRCm39) N43S probably damaging Het
Arfgef1 T C 1: 10,229,861 (GRCm39) H1280R probably damaging Het
Cbfa2t3 C T 8: 123,370,057 (GRCm39) V139M probably damaging Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Clmp A T 9: 40,682,432 (GRCm39) N72I probably benign Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Creb3l1 A G 2: 91,813,520 (GRCm39) F506L probably benign Het
Ctbp1 A G 5: 33,424,250 (GRCm39) S47P probably damaging Het
Dus1l G A 11: 120,686,506 (GRCm39) R12C possibly damaging Het
Elp5 T C 11: 69,861,388 (GRCm39) Q197R probably null Het
Epb41l4b A G 4: 57,076,556 (GRCm39) V326A probably damaging Het
Gm27013 T A 6: 130,654,110 (GRCm39) T451S probably benign Het
Ifi208 A T 1: 173,510,267 (GRCm39) M141L probably benign Het
Inpp5e A G 2: 26,290,937 (GRCm39) S377P probably damaging Het
Kat2a A G 11: 100,596,092 (GRCm39) L822P probably damaging Het
Kcnip2 G C 19: 45,800,654 (GRCm39) T24S probably benign Het
Med17 A G 9: 15,178,765 (GRCm39) Y469H possibly damaging Het
Mindy3 C T 2: 12,410,676 (GRCm39) C77Y probably damaging Het
Mmp1a A G 9: 7,467,236 (GRCm39) T271A probably benign Het
Ncor2 A T 5: 125,128,020 (GRCm39) S118T probably damaging Het
Or5ak24 A T 2: 85,260,962 (GRCm39) D70E probably damaging Het
Osmr A T 15: 6,882,027 (GRCm39) V39D probably damaging Het
Pcdh15 G A 10: 74,467,829 (GRCm39) probably benign Het
Pclo A G 5: 14,763,889 (GRCm39) K836E probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pik3r1 A T 13: 101,838,240 (GRCm39) L272H probably damaging Het
Pik3r1 G A 13: 101,838,241 (GRCm39) L272F probably benign Het
Prrc2b G GCT 2: 32,108,820 (GRCm39) probably benign Het
Ptprq T G 10: 107,547,778 (GRCm39) I207L probably benign Het
Rasa2 G T 9: 96,442,830 (GRCm39) T531K probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a6 G A 9: 108,731,416 (GRCm39) probably benign Het
Slc7a13 G A 4: 19,819,492 (GRCm39) G231R probably null Het
Slco3a1 T A 7: 73,968,302 (GRCm39) N473Y probably damaging Het
Tapt1 G A 5: 44,334,447 (GRCm39) L515F probably benign Het
Tmem145 T C 7: 25,008,218 (GRCm39) I253T probably benign Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Unc13a A G 8: 72,120,368 (GRCm39) probably benign Het
Usp24 T C 4: 106,173,970 (GRCm39) V101A probably benign Het
Zfp36l3 T C X: 52,777,840 (GRCm39) T125A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCGAGGTTTGCTCTGAAGTC -3'
(R):5'- TCAGGTGCCAAAGTAAGGAC -3'

Sequencing Primer
(F):5'- TGCTCTGAAGTCTGAGATGAAG -3'
(R):5'- ACGCAGTCCCTGGTTGCTG -3'
Posted On 2015-06-10