Incidental Mutation 'IGL01521:Fhod1'
ID 90525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhod1
Ensembl Gene ENSMUSG00000014778
Gene Name formin homology 2 domain containing 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # IGL01521
Quality Score
Status
Chromosome 8
Chromosomal Location 106055795-106074585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106057055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 973 (A973V)
Ref Sequence ENSEMBL: ENSMUSP00000014922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000015000] [ENSMUST00000070508] [ENSMUST00000098453] [ENSMUST00000109372] [ENSMUST00000126705] [ENSMUST00000211199] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000210801] [ENSMUST00000153146]
AlphaFold Q6P9Q4
Predicted Effect probably benign
Transcript: ENSMUST00000014922
AA Change: A973V

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: A973V

DomainStartEndE-ValueType
PDB:3DAD|B 1 339 N/A PDB
Blast:Drf_GBD 85 216 1e-48 BLAST
SCOP:d1ee4a_ 120 240 4e-4 SMART
Blast:FH2 231 318 6e-38 BLAST
low complexity region 342 357 N/A INTRINSIC
Blast:FH2 386 483 2e-10 BLAST
low complexity region 514 532 N/A INTRINSIC
low complexity region 573 643 N/A INTRINSIC
FH2 648 1100 3.16e-121 SMART
low complexity region 1119 1130 N/A INTRINSIC
Blast:FH2 1135 1179 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000015000
SMART Domains Protein: ENSMUSP00000015000
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 171 1.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070508
SMART Domains Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679

DomainStartEndE-ValueType
LRR 42 67 7.15e-2 SMART
LRR 68 93 1.92e-2 SMART
LRR 94 119 1.23e0 SMART
LRR 120 145 1.56e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098453
SMART Domains Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 103 3.7e-29 PFAM
low complexity region 118 133 N/A INTRINSIC
low complexity region 135 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109372
SMART Domains Protein: ENSMUSP00000104997
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 103 4.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126705
SMART Domains Protein: ENSMUSP00000138226
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 100 3e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134837
Predicted Effect probably benign
Transcript: ENSMUST00000211199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132777
Predicted Effect probably benign
Transcript: ENSMUST00000209964
Predicted Effect probably benign
Transcript: ENSMUST00000210412
Predicted Effect probably benign
Transcript: ENSMUST00000210801
Predicted Effect probably benign
Transcript: ENSMUST00000153146
SMART Domains Protein: ENSMUSP00000138470
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 100 3e-29 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,770,419 (GRCm39) I406F possibly damaging Het
Adgrb2 A G 4: 129,886,085 (GRCm39) E75G probably damaging Het
Angptl2 T C 2: 33,136,215 (GRCm39) Y467H probably damaging Het
Arap1 G T 7: 101,049,812 (GRCm39) probably null Het
Arfgap1 G A 2: 180,613,371 (GRCm39) C22Y probably damaging Het
Artn G A 4: 117,784,484 (GRCm39) P25S probably damaging Het
Bicra G T 7: 15,723,113 (GRCm39) Q135K probably benign Het
Clpx T C 9: 65,226,026 (GRCm39) V367A probably damaging Het
Clstn3 C T 6: 124,434,990 (GRCm39) W308* probably null Het
Cpb2 T A 14: 75,495,071 (GRCm39) V67D probably damaging Het
Cyp2c38 A G 19: 39,449,114 (GRCm39) Y80H probably damaging Het
Dbt A G 3: 116,327,032 (GRCm39) D127G probably benign Het
Elp1 T A 4: 56,771,059 (GRCm39) E961D probably benign Het
Flacc1 T G 1: 58,709,553 (GRCm39) K201Q probably damaging Het
Focad A T 4: 88,328,927 (GRCm39) *1713C probably null Het
Gemin5 A T 11: 58,025,744 (GRCm39) probably benign Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Kif23 T A 9: 61,827,182 (GRCm39) T890S probably damaging Het
Kmt5b T A 19: 3,836,618 (GRCm39) S52T possibly damaging Het
Lipo3 A T 19: 33,763,083 (GRCm39) D53E probably damaging Het
Lrrc14b G A 13: 74,511,691 (GRCm39) R130C probably damaging Het
Myt1 T A 2: 181,467,704 (GRCm39) I1046K probably damaging Het
Napsa A T 7: 44,236,061 (GRCm39) I367F probably damaging Het
Or5aq1b C T 2: 86,902,077 (GRCm39) V134I probably benign Het
Or8b56 A T 9: 38,739,185 (GRCm39) Y66F probably damaging Het
Rgcc T G 14: 79,538,185 (GRCm39) S69R probably damaging Het
Rin3 T A 12: 102,335,307 (GRCm39) I326N probably benign Het
Sipa1 C A 19: 5,711,006 (GRCm39) M1I probably null Het
Sirpb1a T A 3: 15,475,561 (GRCm39) M325L probably benign Het
Sult1a1 C A 7: 126,274,451 (GRCm39) V71F possibly damaging Het
Tgds G T 14: 118,350,506 (GRCm39) P349Q probably damaging Het
Tmem63c T A 12: 87,115,918 (GRCm39) H186Q probably damaging Het
Trappc9 A G 15: 72,924,016 (GRCm39) L242S probably damaging Het
Trip12 T A 1: 84,743,919 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,412 (GRCm39) probably null Het
Other mutations in Fhod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Fhod1 APN 8 106,058,734 (GRCm39) missense possibly damaging 0.66
IGL01149:Fhod1 APN 8 106,074,439 (GRCm39) unclassified probably benign
IGL01325:Fhod1 APN 8 106,058,281 (GRCm39) missense probably benign 0.33
IGL01470:Fhod1 APN 8 106,056,281 (GRCm39) missense probably damaging 1.00
IGL01861:Fhod1 APN 8 106,057,808 (GRCm39) missense probably damaging 1.00
IGL02864:Fhod1 APN 8 106,063,796 (GRCm39) unclassified probably benign
IGL02951:Fhod1 APN 8 106,057,862 (GRCm39) missense probably damaging 1.00
reactive UTSW 8 106,063,066 (GRCm39) unclassified probably benign
treason UTSW 8 106,063,982 (GRCm39) unclassified probably benign
R0016:Fhod1 UTSW 8 106,058,287 (GRCm39) missense possibly damaging 0.91
R0016:Fhod1 UTSW 8 106,058,287 (GRCm39) missense possibly damaging 0.91
R0071:Fhod1 UTSW 8 106,063,857 (GRCm39) splice site probably null
R0071:Fhod1 UTSW 8 106,063,857 (GRCm39) splice site probably null
R0498:Fhod1 UTSW 8 106,056,488 (GRCm39) missense probably damaging 1.00
R1234:Fhod1 UTSW 8 106,063,795 (GRCm39) unclassified probably benign
R1465:Fhod1 UTSW 8 106,065,546 (GRCm39) unclassified probably benign
R1465:Fhod1 UTSW 8 106,065,546 (GRCm39) unclassified probably benign
R1485:Fhod1 UTSW 8 106,063,430 (GRCm39) critical splice acceptor site probably null
R1585:Fhod1 UTSW 8 106,063,957 (GRCm39) unclassified probably benign
R1615:Fhod1 UTSW 8 106,074,463 (GRCm39) unclassified probably benign
R1778:Fhod1 UTSW 8 106,056,309 (GRCm39) missense probably damaging 1.00
R1781:Fhod1 UTSW 8 106,074,421 (GRCm39) unclassified probably benign
R2291:Fhod1 UTSW 8 106,063,596 (GRCm39) unclassified probably benign
R2864:Fhod1 UTSW 8 106,059,543 (GRCm39) missense probably null 0.97
R2865:Fhod1 UTSW 8 106,059,543 (GRCm39) missense probably null 0.97
R3775:Fhod1 UTSW 8 106,058,270 (GRCm39) unclassified probably benign
R4107:Fhod1 UTSW 8 106,064,670 (GRCm39) unclassified probably benign
R4422:Fhod1 UTSW 8 106,063,983 (GRCm39) unclassified probably benign
R4423:Fhod1 UTSW 8 106,063,983 (GRCm39) unclassified probably benign
R4424:Fhod1 UTSW 8 106,063,983 (GRCm39) unclassified probably benign
R4425:Fhod1 UTSW 8 106,063,983 (GRCm39) unclassified probably benign
R4641:Fhod1 UTSW 8 106,056,224 (GRCm39) missense probably damaging 1.00
R4724:Fhod1 UTSW 8 106,064,493 (GRCm39) unclassified probably benign
R4757:Fhod1 UTSW 8 106,074,443 (GRCm39) unclassified probably benign
R5004:Fhod1 UTSW 8 106,063,577 (GRCm39) unclassified probably benign
R5082:Fhod1 UTSW 8 106,057,145 (GRCm39) missense probably damaging 1.00
R6033:Fhod1 UTSW 8 106,063,066 (GRCm39) unclassified probably benign
R6033:Fhod1 UTSW 8 106,063,066 (GRCm39) unclassified probably benign
R6298:Fhod1 UTSW 8 106,063,780 (GRCm39) unclassified probably benign
R6320:Fhod1 UTSW 8 106,063,982 (GRCm39) unclassified probably benign
R6362:Fhod1 UTSW 8 106,058,273 (GRCm39) critical splice donor site probably null
R6449:Fhod1 UTSW 8 106,056,869 (GRCm39) missense probably damaging 1.00
R6736:Fhod1 UTSW 8 106,064,522 (GRCm39) unclassified probably benign
R6816:Fhod1 UTSW 8 106,057,176 (GRCm39) missense probably benign 0.10
R6955:Fhod1 UTSW 8 106,059,639 (GRCm39) missense probably benign 0.00
R7073:Fhod1 UTSW 8 106,063,771 (GRCm39) missense unknown
R7567:Fhod1 UTSW 8 106,074,469 (GRCm39) missense unknown
R7697:Fhod1 UTSW 8 106,074,563 (GRCm39) unclassified probably benign
R7789:Fhod1 UTSW 8 106,056,740 (GRCm39) missense probably damaging 1.00
R7894:Fhod1 UTSW 8 106,057,789 (GRCm39) missense probably damaging 1.00
R8105:Fhod1 UTSW 8 106,063,847 (GRCm39) missense unknown
R8835:Fhod1 UTSW 8 106,065,484 (GRCm39) critical splice donor site probably null
R9200:Fhod1 UTSW 8 106,058,072 (GRCm39) missense probably benign 0.03
R9266:Fhod1 UTSW 8 106,065,531 (GRCm39) missense unknown
R9426:Fhod1 UTSW 8 106,056,490 (GRCm39) missense probably benign 0.31
R9429:Fhod1 UTSW 8 106,057,139 (GRCm39) missense probably damaging 1.00
R9507:Fhod1 UTSW 8 106,064,694 (GRCm39) nonsense probably null
R9562:Fhod1 UTSW 8 106,074,422 (GRCm39) missense unknown
R9566:Fhod1 UTSW 8 106,064,516 (GRCm39) missense unknown
R9736:Fhod1 UTSW 8 106,059,597 (GRCm39) missense probably damaging 1.00
R9739:Fhod1 UTSW 8 106,064,378 (GRCm39) missense unknown
R9746:Fhod1 UTSW 8 106,064,048 (GRCm39) missense unknown
R9748:Fhod1 UTSW 8 106,058,323 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09