Incidental Mutation 'R5664:Inf2'
ID 444286
Institutional Source Beutler Lab
Gene Symbol Inf2
Ensembl Gene ENSMUSG00000037679
Gene Name inverted formin, FH2 and WH2 domain containing
Synonyms 2610204M08Rik, EG629699
MMRRC Submission 043307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 112555218-112581991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112578162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1151 (H1151R)
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: H1151R
SMART Domains Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: H1151R

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: H608R
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably damaging 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
R3877:Inf2 UTSW 12 112,577,264 (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
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'- TTGTGGATGCTGTAACCCC -3'
(R):5'- TCAAGTGCAGATTCTGGGGC -3'

Sequencing Primer
(F):5'- AGGAAGATGGTCCTCCAGC -3'
(R):5'- CAGATTCTGGGGCTGTGTCCTC -3'
Posted On 2016-11-09