Incidental Mutation 'IGL02719:Fermt2'
ID 304884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fermt2
Ensembl Gene ENSMUSG00000037712
Gene Name fermitin family member 2
Synonyms Mig2, Plekhc1, Kindlin-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02719
Quality Score
Status
Chromosome 14
Chromosomal Location 45696252-45767575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45742113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 78 (T78A)
Ref Sequence ENSEMBL: ENSMUSP00000120918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045905] [ENSMUST00000149723] [ENSMUST00000150660]
AlphaFold Q8CIB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000045905
AA Change: T78A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: T78A

DomainStartEndE-ValueType
Blast:B41 16 45 2e-9 BLAST
low complexity region 46 57 N/A INTRINSIC
B41 93 573 5.09e-56 SMART
PH 373 478 2.7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149723
Predicted Effect probably damaging
Transcript: ENSMUST00000150660
AA Change: T78A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120918
Gene: ENSMUSG00000037712
AA Change: T78A

DomainStartEndE-ValueType
PDB:2LGX|A 1 105 3e-61 PDB
Blast:B41 16 45 3e-10 BLAST
Blast:B41 93 258 3e-96 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228208
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice are embryonic lethal at or before E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Crtc3 T C 7: 80,268,406 (GRCm39) probably null Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Erlin2 A G 8: 27,519,703 (GRCm39) probably benign Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Pde3b T A 7: 114,105,483 (GRCm39) S472T probably damaging Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pgc A G 17: 48,039,792 (GRCm39) Y62C probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Retsat A G 6: 72,580,642 (GRCm39) T207A possibly damaging Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S probably damaging Het
Other mutations in Fermt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Fermt2 APN 14 45,702,320 (GRCm39) missense probably damaging 1.00
IGL01859:Fermt2 APN 14 45,697,413 (GRCm39) missense possibly damaging 0.94
IGL03182:Fermt2 APN 14 45,699,225 (GRCm39) missense possibly damaging 0.77
ANU18:Fermt2 UTSW 14 45,702,320 (GRCm39) missense probably damaging 1.00
R0107:Fermt2 UTSW 14 45,702,279 (GRCm39) missense probably damaging 0.98
R0671:Fermt2 UTSW 14 45,706,776 (GRCm39) missense probably benign 0.09
R1172:Fermt2 UTSW 14 45,697,425 (GRCm39) missense possibly damaging 0.91
R1227:Fermt2 UTSW 14 45,697,447 (GRCm39) missense probably benign 0.19
R1480:Fermt2 UTSW 14 45,699,244 (GRCm39) missense possibly damaging 0.88
R2219:Fermt2 UTSW 14 45,713,354 (GRCm39) missense probably benign
R2937:Fermt2 UTSW 14 45,741,948 (GRCm39) splice site probably null
R4765:Fermt2 UTSW 14 45,699,693 (GRCm39) missense probably benign 0.01
R5921:Fermt2 UTSW 14 45,702,203 (GRCm39) missense probably damaging 1.00
R6063:Fermt2 UTSW 14 45,697,338 (GRCm39) missense possibly damaging 0.77
R6216:Fermt2 UTSW 14 45,697,338 (GRCm39) missense possibly damaging 0.77
R6254:Fermt2 UTSW 14 45,713,516 (GRCm39) missense probably damaging 1.00
R6964:Fermt2 UTSW 14 45,702,599 (GRCm39) missense probably damaging 0.99
R7574:Fermt2 UTSW 14 45,706,782 (GRCm39) missense probably damaging 1.00
R7917:Fermt2 UTSW 14 45,699,318 (GRCm39) missense probably damaging 0.98
R8692:Fermt2 UTSW 14 45,742,099 (GRCm39) nonsense probably null
R8861:Fermt2 UTSW 14 45,697,466 (GRCm39) missense possibly damaging 0.94
R8910:Fermt2 UTSW 14 45,702,389 (GRCm39) missense probably damaging 1.00
R8986:Fermt2 UTSW 14 45,742,023 (GRCm39) missense probably benign
Posted On 2015-04-16