Incidental Mutation 'R0498:Fhod1'
ID 40608
Institutional Source Beutler Lab
Gene Symbol Fhod1
Ensembl Gene ENSMUSG00000014778
Gene Name formin homology 2 domain containing 1
Synonyms
MMRRC Submission 038694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R0498 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106055795-106074585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106056488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1101 (R1101C)
Ref Sequence ENSEMBL: ENSMUSP00000014922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000015000] [ENSMUST00000070508] [ENSMUST00000098453] [ENSMUST00000109372] [ENSMUST00000126705] [ENSMUST00000210801] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000211199] [ENSMUST00000153146]
AlphaFold Q6P9Q4
Predicted Effect probably damaging
Transcript: ENSMUST00000014922
AA Change: R1101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: R1101C

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 probably benign
Transcript: ENSMUST00000210801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132777
Predicted Effect probably benign
Transcript: ENSMUST00000209964
Predicted Effect probably benign
Transcript: ENSMUST00000210412
Predicted Effect probably benign
Transcript: ENSMUST00000211199
Predicted Effect probably benign
Transcript: ENSMUST00000153146
SMART Domains Protein: ENSMUSP00000138470
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 100 3e-29 PFAM
Meta Mutation Damage Score 0.1614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,718 (GRCm39) D220V probably benign Het
Adgrf2 A G 17: 43,025,206 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,562,716 (GRCm39) V219A probably benign Het
Anapc10 A G 8: 80,501,610 (GRCm39) D126G probably benign Het
Ap1m2 T C 9: 21,207,129 (GRCm39) *426W probably null Het
Arhgap21 A G 2: 20,867,928 (GRCm39) I865T probably damaging Het
Armc8 A G 9: 99,379,345 (GRCm39) V527A probably damaging Het
Asic5 A T 3: 81,913,778 (GRCm39) probably benign Het
Baz2b A C 2: 59,732,340 (GRCm39) probably benign Het
Bpifa5 T C 2: 154,009,169 (GRCm39) V237A probably damaging Het
Brip1 T A 11: 86,088,745 (GRCm39) K52I possibly damaging Het
Cacna1g T C 11: 94,350,685 (GRCm39) I387V probably damaging Het
Cbr4 A G 8: 61,948,107 (GRCm39) I135V probably benign Het
Ccdc66 C T 14: 27,222,197 (GRCm39) probably null Het
Cubn G A 2: 13,449,078 (GRCm39) T999M probably damaging Het
Dnai3 G T 3: 145,787,119 (GRCm39) D305E possibly damaging Het
Dpp8 C T 9: 64,953,077 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,390 (GRCm39) S966P possibly damaging Het
Erp27 T C 6: 136,896,862 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,786 (GRCm39) I2813L probably benign Het
Hoxc9 T C 15: 102,892,359 (GRCm39) S191P probably damaging Het
Izumo4 T C 10: 80,540,030 (GRCm39) probably null Het
Kalrn C T 16: 33,875,261 (GRCm39) D104N possibly damaging Het
Kank4 A T 4: 98,667,873 (GRCm39) D191E probably benign Het
Kbtbd11 A G 8: 15,077,605 (GRCm39) E68G probably benign Het
Kdr C T 5: 76,119,798 (GRCm39) V654I probably benign Het
Klra1 A T 6: 130,349,782 (GRCm39) probably null Het
Kmt2e T A 5: 23,683,970 (GRCm39) Y373* probably null Het
Lepr A T 4: 101,602,889 (GRCm39) M226L probably benign Het
Lrp1b T A 2: 41,348,417 (GRCm39) I800F probably benign Het
Lta4h T C 10: 93,307,833 (GRCm39) probably benign Het
Map3k7 T C 4: 31,974,814 (GRCm39) probably benign Het
Map4k4 G A 1: 40,029,338 (GRCm39) R371Q probably benign Het
Mgat4f A G 1: 134,318,610 (GRCm39) I461V possibly damaging Het
Mme A G 3: 63,253,487 (GRCm39) I444V probably damaging Het
Mms19 C T 19: 41,938,212 (GRCm39) R582Q possibly damaging Het
Mtss1 A G 15: 58,817,286 (GRCm39) S502P probably damaging Het
Myo3a G T 2: 22,467,441 (GRCm39) A232S possibly damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or4k15 A C 14: 50,364,750 (GRCm39) T239P probably damaging Het
Or8b12 G A 9: 37,657,550 (GRCm39) G40E probably damaging Het
Pcm1 G A 8: 41,746,806 (GRCm39) S1335N probably benign Het
Pdzph1 A G 17: 59,280,825 (GRCm39) F486L probably benign Het
Piezo2 T C 18: 63,235,245 (GRCm39) K552R possibly damaging Het
Plekhs1 T A 19: 56,469,536 (GRCm39) probably null Het
Pprc1 C T 19: 46,060,007 (GRCm39) Q1514* probably null Het
Ralgapa1 T C 12: 55,736,576 (GRCm39) T1831A possibly damaging Het
Rnpep G T 1: 135,193,090 (GRCm39) D455E probably damaging Het
Rpgrip1 T A 14: 52,368,771 (GRCm39) probably benign Het
Saxo1 A T 4: 86,397,133 (GRCm39) M135K possibly damaging Het
Serpina12 T C 12: 104,002,048 (GRCm39) T223A probably damaging Het
Serpinb3a A G 1: 106,974,880 (GRCm39) F218L probably damaging Het
Serpinb9f T G 13: 33,509,990 (GRCm39) probably benign Het
Spata33 A G 8: 123,948,662 (GRCm39) D98G probably benign Het
Stard13 T A 5: 150,975,942 (GRCm39) Y742F probably damaging Het
Tecta A G 9: 42,288,910 (GRCm39) Y552H probably damaging Het
Tie1 A T 4: 118,336,358 (GRCm39) probably benign Het
Tmem161a A G 8: 70,633,623 (GRCm39) T254A probably benign Het
Tmem30a G T 9: 79,681,376 (GRCm39) Y264* probably null Het
Tmem87a A T 2: 120,224,946 (GRCm39) I105K probably benign Het
Tnrc6b A T 15: 80,742,920 (GRCm39) D51V probably damaging Het
Trgc3 T A 13: 19,445,262 (GRCm39) M70K probably damaging Het
Trpc4 T C 3: 54,198,632 (GRCm39) F519L probably damaging Het
Ttn T C 2: 76,539,925 (GRCm39) T26027A probably damaging Het
Vmn1r198 A C 13: 22,539,144 (GRCm39) H121P probably damaging Het
Vps33a A G 5: 123,709,024 (GRCm39) F64L probably benign Het
Zfp1008 T C 13: 62,755,201 (GRCm39) N39S probably damaging Het
Zfp994 A T 17: 22,419,882 (GRCm39) C356S probably damaging 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
IGL01521:Fhod1 APN 8 106,057,055 (GRCm39) missense probably benign 0.17
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
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
Predicted Primers PCR Primer
(F):5'- GCACCAGCAGGTCCATTATCTCATC -3'
(R):5'- TGCCACACACTGAGAGAGTTTGCC -3'

Sequencing Primer
(F):5'- AGGTCCATTATCTCATCTGACGTG -3'
(R):5'- ATCGGACTTGTCGGGAAC -3'
Posted On 2013-05-23