Incidental Mutation 'R6033:Fhod1'
ID 486391
Institutional Source Beutler Lab
Gene Symbol Fhod1
Ensembl Gene ENSMUSG00000014778
Gene Name formin homology 2 domain containing 1
Synonyms
MMRRC Submission 044205-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R6033 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106055795-106074585 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 106063066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000098453] [ENSMUST00000109372]
AlphaFold Q6P9Q4
Predicted Effect unknown
Transcript: ENSMUST00000014922
AA Change: T427A
SMART Domains Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: T427A

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: 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 noncoding transcript
Transcript: ENSMUST00000132777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136439
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,645,551 (GRCm39) V58E probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alas1 A G 9: 106,118,403 (GRCm39) S240P probably damaging Het
Alox12e C T 11: 70,206,839 (GRCm39) G616D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Ccdc150 G T 1: 54,324,787 (GRCm39) probably null Het
Chct1 A G 11: 85,069,198 (GRCm39) E72G probably damaging Het
Cmtm8 T C 9: 114,625,141 (GRCm39) T97A probably damaging Het
Cnmd T C 14: 79,898,945 (GRCm39) S36G probably benign Het
Dnah3 A C 7: 119,670,870 (GRCm39) N609K probably benign Het
Dph1 C T 11: 75,082,023 (GRCm39) probably benign Het
Drosha G A 15: 12,926,085 (GRCm39) A1225T probably benign Het
Eid3 T A 10: 82,703,487 (GRCm39) I316K probably damaging Het
Erich6 A G 3: 58,530,622 (GRCm39) L449S probably benign Het
Glra1 A G 11: 55,418,245 (GRCm39) Y250H probably damaging Het
Gm21972 T C 1: 86,064,817 (GRCm39) Y950H probably damaging Het
Gm6712 T A 17: 17,514,678 (GRCm39) noncoding transcript Het
Grb7 C T 11: 98,346,023 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,583 (GRCm39) E941G probably benign Het
Homer2 A C 7: 81,268,427 (GRCm39) S78A possibly damaging Het
Ica1 T A 6: 8,630,799 (GRCm39) probably null Het
Ifna12 T C 4: 88,521,154 (GRCm39) E131G possibly damaging Het
Igbp1b T C 6: 138,635,207 (GRCm39) Y79C probably damaging Het
Incenp C T 19: 9,850,061 (GRCm39) V871I probably damaging Het
Jaml G A 9: 45,000,008 (GRCm39) G60D probably damaging Het
Kcp C T 6: 29,493,193 (GRCm39) C110Y probably damaging Het
Manba T C 3: 135,255,022 (GRCm39) V460A probably benign Het
Myrfl A T 10: 116,685,006 (GRCm39) C125S probably benign Het
Ncan T C 8: 70,565,240 (GRCm39) D229G probably damaging Het
Ncoa4-ps A G 12: 119,225,475 (GRCm39) noncoding transcript Het
Nlrp10 A T 7: 108,523,784 (GRCm39) D565E probably benign Het
Npas2 T C 1: 39,377,261 (GRCm39) V541A probably damaging Het
Nsg2 G A 11: 32,005,058 (GRCm39) V87M possibly damaging Het
Or5al6 A T 2: 85,976,613 (GRCm39) V155E probably damaging Het
Prkd2 C T 7: 16,599,639 (GRCm39) R701C probably damaging Het
Prr3 A T 17: 36,289,516 (GRCm39) probably null Het
Prr5 A G 15: 84,626,126 (GRCm39) E67G probably damaging Het
Prss36 T C 7: 127,533,739 (GRCm39) R22G probably benign Het
Slc45a4 G A 15: 73,453,825 (GRCm39) A716V probably damaging Het
Slc46a1 T C 11: 78,356,833 (GRCm39) probably null Het
Slc6a5 T C 7: 49,609,099 (GRCm39) I768T probably benign Het
Slco6c1 C T 1: 97,009,041 (GRCm39) probably null Het
Taar2 A T 10: 23,816,874 (GRCm39) H138L probably benign Het
Taf2 A C 15: 54,922,297 (GRCm39) L330R probably damaging Het
Tgm5 T C 2: 120,901,210 (GRCm39) probably null Het
Tmed4 A T 11: 6,224,491 (GRCm39) Y56* probably null Het
Tmem156 A T 5: 65,232,964 (GRCm39) F135L probably benign Het
Ttll6 T C 11: 96,025,713 (GRCm39) S65P probably damaging Het
Ttn C T 2: 76,557,171 (GRCm39) G28199R probably damaging Het
Ubn2 T A 6: 38,447,159 (GRCm39) probably null Het
Unc80 A T 1: 66,512,419 (GRCm39) T110S possibly damaging Het
Vmn2r72 A T 7: 85,387,137 (GRCm39) V809E probably damaging Het
Zbtb2 A G 10: 4,318,599 (GRCm39) F476L probably damaging Het
Zbtb24 T C 10: 41,340,397 (GRCm39) F498L probably damaging Het
Zfp280d T A 9: 72,236,419 (GRCm39) L494Q probably damaging Het
Zfp281 T C 1: 136,554,464 (GRCm39) S481P probably benign 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
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
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'- CACTTACCAAACGGGAGCAG -3'
(R):5'- AAGTACATACCTGGGTCTGTGTG -3'

Sequencing Primer
(F):5'- GCAGTTTGGTGAAGTCTGAAAAG -3'
(R):5'- ACATACCTGGGTCTGTGTGAAGTG -3'
Posted On 2017-08-16