Incidental Mutation 'R3877:Inf2'
ID 276917
Institutional Source Beutler Lab
Gene Symbol Inf2
Ensembl Gene ENSMUSG00000037679
Gene Name inverted formin, FH2 and WH2 domain containing
Synonyms 2610204M08Rik, EG629699
MMRRC Submission 040904-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3877 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112555218-112581991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 112577264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1036 (A1036E)
Ref Sequence ENSEMBL: ENSMUSP00000098591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101029]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000101029
AA Change: A1036E
SMART Domains Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: A1036E

DomainStartEndE-ValueType
Drf_GBD 1 152 3.47e-34 SMART
Drf_FH3 156 343 2.18e-58 SMART
low complexity region 359 382 N/A INTRINSIC
low complexity region 420 518 N/A INTRINSIC
low complexity region 525 557 N/A INTRINSIC
FH2 587 1030 1.96e-53 SMART
WH2 1005 1020 1.68e-2 SMART
Blast:FH2 1049 1179 3e-28 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000222275
AA Change: A493E
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele display placental vasculopathy, restricted fetal growth, increased gestational length and transient increase in maternal blood pressure in the late stages of pregnancy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,249,671 (GRCm39) V594I possibly damaging Het
Adgb A T 10: 10,318,227 (GRCm39) probably null Het
Adgrb3 A C 1: 25,150,906 (GRCm39) L1109R probably damaging Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Arhgap21 A T 2: 20,864,717 (GRCm39) M1197K probably damaging Het
Arhgef40 A G 14: 52,239,742 (GRCm39) T1319A probably damaging Het
C4bp A G 1: 130,575,764 (GRCm39) probably null Het
Cd200r1 T C 16: 44,610,374 (GRCm39) S161P possibly damaging Het
Ckap5 A G 2: 91,445,495 (GRCm39) K1711E possibly damaging Het
Cldn19 T C 4: 119,114,094 (GRCm39) S79P possibly damaging Het
Cplane1 T C 15: 8,251,427 (GRCm39) S1900P probably benign Het
Dnah17 T G 11: 117,915,533 (GRCm39) N4334T probably damaging Het
Dpm2 G A 2: 32,462,412 (GRCm39) probably null Het
Eef1a2 A T 2: 180,794,626 (GRCm39) V191E probably damaging Het
Gmds G A 13: 32,411,248 (GRCm39) T62I probably damaging Het
Hyal5 A T 6: 24,876,630 (GRCm39) I168F probably damaging Het
Idh3a T C 9: 54,499,679 (GRCm39) V31A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kidins220 T A 12: 25,051,564 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b A G 2: 41,335,206 (GRCm39) C779R probably damaging Het
Lrp2 A G 2: 69,289,816 (GRCm39) probably null Het
Lrp2 G A 2: 69,379,391 (GRCm39) T107M probably damaging Het
Lrpap1 T C 5: 35,255,547 (GRCm39) E184G probably benign Het
Mapre1 C T 2: 153,588,201 (GRCm39) T8M possibly damaging Het
Mms19 G A 19: 41,954,695 (GRCm39) Q75* probably null Het
Mtcl1 T C 17: 66,649,949 (GRCm39) I1390V probably damaging Het
Muc5b A G 7: 141,411,289 (GRCm39) S1412G unknown Het
Myh4 A T 11: 67,148,009 (GRCm39) Q1686L probably benign Het
Or1e25 A T 11: 73,493,979 (GRCm39) D191V probably damaging Het
Or9s13 A T 1: 92,547,805 (GRCm39) D59V probably damaging Het
Rcvrn A T 11: 67,590,802 (GRCm39) I129F probably damaging Het
Reg3b T A 6: 78,348,216 (GRCm39) M10K possibly damaging Het
Rimbp2 T A 5: 128,850,529 (GRCm39) E918V probably damaging Het
Rpl5 A G 5: 108,051,667 (GRCm39) T154A probably benign Het
Sall4 A C 2: 168,598,162 (GRCm39) L195R probably damaging Het
Sh3gl2 T C 4: 85,297,618 (GRCm39) S199P possibly damaging Het
Shank1 G T 7: 43,994,416 (GRCm39) R859L unknown Het
Thsd7b A G 1: 130,117,919 (GRCm39) E1445G possibly damaging Het
Tnfaip6 A G 2: 51,942,339 (GRCm39) E216G probably benign Het
Tram1 T C 1: 13,639,827 (GRCm39) T307A probably benign Het
Trpv5 A G 6: 41,637,277 (GRCm39) V354A probably benign Het
Tyro3 A G 2: 119,643,774 (GRCm39) E745G probably damaging Het
Vmn1r68 A T 7: 10,261,408 (GRCm39) I230N probably damaging Het
Vmn2r28 A T 7: 5,491,357 (GRCm39) W297R probably damaging Het
Vrk3 A T 7: 44,412,460 (GRCm39) probably null Het
Zfhx4 T C 3: 5,465,845 (GRCm39) V2001A probably benign Het
Zfp512b AG AGG 2: 181,230,556 (GRCm39) probably null Het
Other mutations in Inf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Inf2 APN 12 112,578,290 (GRCm39) nonsense probably null
IGL01582:Inf2 APN 12 112,576,993 (GRCm39) missense unknown
IGL02078:Inf2 APN 12 112,568,048 (GRCm39) missense probably damaging 1.00
IGL02534:Inf2 APN 12 112,576,930 (GRCm39) missense unknown
IGL03122:Inf2 APN 12 112,570,663 (GRCm39) missense probably benign 0.03
IGL03296:Inf2 APN 12 112,570,642 (GRCm39) nonsense probably null
Talon UTSW 12 112,576,721 (GRCm39) splice site probably benign
R0413:Inf2 UTSW 12 112,568,110 (GRCm39) missense probably damaging 1.00
R0552:Inf2 UTSW 12 112,579,008 (GRCm39) intron probably benign
R0920:Inf2 UTSW 12 112,576,721 (GRCm39) splice site probably benign
R1240:Inf2 UTSW 12 112,577,210 (GRCm39) missense unknown
R1452:Inf2 UTSW 12 112,567,778 (GRCm39) missense probably damaging 0.99
R1974:Inf2 UTSW 12 112,574,771 (GRCm39) missense unknown
R2422:Inf2 UTSW 12 112,577,258 (GRCm39) missense unknown
R4108:Inf2 UTSW 12 112,574,015 (GRCm39) missense unknown
R4490:Inf2 UTSW 12 112,566,638 (GRCm39) missense probably damaging 1.00
R5071:Inf2 UTSW 12 112,578,473 (GRCm39) splice site probably null
R5074:Inf2 UTSW 12 112,578,473 (GRCm39) splice site probably null
R5306:Inf2 UTSW 12 112,567,987 (GRCm39) missense probably benign 0.26
R5383:Inf2 UTSW 12 112,566,579 (GRCm39) missense probably damaging 0.99
R5569:Inf2 UTSW 12 112,568,113 (GRCm39) missense possibly damaging 0.80
R5664:Inf2 UTSW 12 112,578,162 (GRCm39) missense unknown
R6157:Inf2 UTSW 12 112,571,222 (GRCm39) unclassified probably benign
R6221:Inf2 UTSW 12 112,570,179 (GRCm39) missense possibly damaging 0.66
R6429:Inf2 UTSW 12 112,570,690 (GRCm39) missense probably benign 0.01
R6955:Inf2 UTSW 12 112,577,165 (GRCm39) missense unknown
R7423:Inf2 UTSW 12 112,576,172 (GRCm39) missense unknown
R7444:Inf2 UTSW 12 112,571,821 (GRCm39) missense unknown
R7496:Inf2 UTSW 12 112,566,752 (GRCm39) missense probably damaging 1.00
R7605:Inf2 UTSW 12 112,567,771 (GRCm39) missense probably damaging 1.00
R7678:Inf2 UTSW 12 112,573,428 (GRCm39) missense unknown
R7708:Inf2 UTSW 12 112,573,991 (GRCm39) missense unknown
R7752:Inf2 UTSW 12 112,576,118 (GRCm39) missense unknown
R7903:Inf2 UTSW 12 112,578,988 (GRCm39) missense unknown
R8024:Inf2 UTSW 12 112,575,336 (GRCm39) missense unknown
R8118:Inf2 UTSW 12 112,567,871 (GRCm39) missense probably damaging 0.99
R8139:Inf2 UTSW 12 112,568,074 (GRCm39) nonsense probably null
R8229:Inf2 UTSW 12 112,578,030 (GRCm39) missense unknown
R8299:Inf2 UTSW 12 112,570,546 (GRCm39) missense probably benign 0.00
R8918:Inf2 UTSW 12 112,572,703 (GRCm39) missense unknown
R8955:Inf2 UTSW 12 112,576,998 (GRCm39) missense unknown
R8973:Inf2 UTSW 12 112,573,949 (GRCm39) missense unknown
R9171:Inf2 UTSW 12 112,567,965 (GRCm39) nonsense probably null
R9218:Inf2 UTSW 12 112,567,858 (GRCm39) missense possibly damaging 0.95
R9779:Inf2 UTSW 12 112,574,786 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGCTCTCTAAGGTCTGTGG -3'
(R):5'- AATGTTTAAGAGAGGCACAGTCC -3'

Sequencing Primer
(F):5'- CTAAGGTCTGTGGCTCTGCTC -3'
(R):5'- CATAGGCCAATTTCAGAGTTGTGCC -3'
Posted On 2015-04-06