Incidental Mutation 'R8229:Inf2'
ID 640957
Institutional Source Beutler Lab
Gene Symbol Inf2
Ensembl Gene ENSMUSG00000037679
Gene Name inverted formin, FH2 and WH2 domain containing
Synonyms 2610204M08Rik, EG629699
MMRRC Submission 067645-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8229 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112555218-112581991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112578030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1107 (D1107G)
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: D1107G
SMART Domains Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: D1107G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,201,754 (GRCm39) M203K probably damaging Het
Arhgap23 G A 11: 97,344,732 (GRCm39) V565I probably benign Het
D6Wsu163e G T 6: 126,943,966 (GRCm39) R454L probably benign Het
Def6 A G 17: 28,436,729 (GRCm39) D131G probably damaging Het
Erc1 T C 6: 119,730,249 (GRCm39) T616A probably benign Het
Ermard T A 17: 15,279,596 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,487 (GRCm39) L1602P possibly damaging Het
Gli1 C T 10: 127,168,317 (GRCm39) R512Q possibly damaging Het
Gm6034 A G 17: 36,367,268 (GRCm39) T38A unknown Het
H2-M10.1 T C 17: 36,634,931 (GRCm39) I325V probably benign Het
Iws1 A G 18: 32,217,740 (GRCm39) N448S probably benign Het
Klhl24 T C 16: 19,933,321 (GRCm39) Y311H possibly damaging Het
Lama3 C T 18: 12,540,608 (GRCm39) A304V probably benign Het
Limch1 A G 5: 67,186,138 (GRCm39) E646G probably damaging Het
Lrrc8c T A 5: 105,754,402 (GRCm39) V59E probably benign Het
Lrrn4 G A 2: 132,711,807 (GRCm39) T672I probably damaging Het
Magi3 C A 3: 103,923,017 (GRCm39) E1233D possibly damaging Het
Magi3 T C 3: 103,923,018 (GRCm39) E1233G probably benign Het
Mgat5b A T 11: 116,838,213 (GRCm39) K284M probably benign Het
Nedd4 G T 9: 72,638,670 (GRCm39) K485N probably benign Het
Or4c114 T A 2: 88,905,382 (GRCm39) N18Y possibly damaging Het
Or5b101 A G 19: 13,005,561 (GRCm39) I44T possibly damaging Het
Or5p57 C T 7: 107,665,794 (GRCm39) M70I probably benign Het
Or5w17 A T 2: 87,583,408 (GRCm39) C310S probably benign Het
Otud4 A G 8: 80,400,604 (GRCm39) H1106R unknown Het
Pcdha7 C A 18: 37,107,776 (GRCm39) S267* probably null Het
Pcdhb11 A G 18: 37,555,671 (GRCm39) I334V probably benign Het
Phf11b A T 14: 59,568,730 (GRCm39) L61Q probably damaging Het
Prepl T C 17: 85,388,689 (GRCm39) D138G probably benign Het
Sipa1l1 T C 12: 82,484,622 (GRCm39) V1592A probably damaging Het
Smc6 T A 12: 11,341,673 (GRCm39) S564T probably benign Het
Spty2d1 A G 7: 46,647,522 (GRCm39) V469A probably benign Het
Trim11 G A 11: 58,872,167 (GRCm39) probably benign Het
Ttll7 T A 3: 146,607,204 (GRCm39) I158K probably damaging Het
Ugt3a1 A G 15: 9,367,463 (GRCm39) E402G probably damaging Het
Usp33 T C 3: 152,075,929 (GRCm39) V383A probably benign Het
Ythdc1 A G 5: 86,957,167 (GRCm39) probably benign Het
Ywhab T G 2: 163,856,015 (GRCm39) Y130* probably null Het
Zfp609 T C 9: 65,610,782 (GRCm39) K727R possibly damaging Het
Zscan30 A C 18: 24,104,737 (GRCm39) L37R noncoding transcript 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
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
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'- TTGCCCTTACGGACACATCC -3'
(R):5'- AAGTGCAGATTCTGGGGCTG -3'

Sequencing Primer
(F):5'- TGCCAGCAATCCTACCCAGG -3'
(R):5'- GTGCTCTGTCCTCGCTGAG -3'
Posted On 2020-07-28