Incidental Mutation 'IGL03182:Fermt2'
ID412287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fermt2
Ensembl Gene ENSMUSG00000037712
Gene Namefermitin family member 2
SynonymsPlekhc1, Mig2, Kindlin-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03182
Quality Score
Status
Chromosome14
Chromosomal Location45458795-45530118 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45461768 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 623 (M623K)
Ref Sequence ENSEMBL: ENSMUSP00000044554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045905]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045905
AA Change: M623K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: M623K

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 noncoding transcript
Transcript: ENSMUST00000158144
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Aldh2 A G 5: 121,580,724 probably benign Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
AU019823 T C 9: 50,612,398 N50S possibly damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Clcnka T C 4: 141,394,487 Y236C probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Olfr948 A T 9: 39,318,981 M211K probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pim1 T A 17: 29,491,766 D114E possibly damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tbc1d13 G A 2: 30,147,367 A254T probably damaging Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P probably benign Het
Other mutations in Fermt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Fermt2 APN 14 45464863 missense probably damaging 1.00
IGL01859:Fermt2 APN 14 45459956 missense possibly damaging 0.94
IGL02719:Fermt2 APN 14 45504656 missense probably damaging 1.00
ANU18:Fermt2 UTSW 14 45464863 missense probably damaging 1.00
R0107:Fermt2 UTSW 14 45464822 missense probably damaging 0.98
R0671:Fermt2 UTSW 14 45469319 missense probably benign 0.09
R1172:Fermt2 UTSW 14 45459968 missense possibly damaging 0.91
R1227:Fermt2 UTSW 14 45459990 missense probably benign 0.19
R1480:Fermt2 UTSW 14 45461787 missense possibly damaging 0.88
R2219:Fermt2 UTSW 14 45475897 missense probably benign
R2937:Fermt2 UTSW 14 45504491 splice site probably null
R4765:Fermt2 UTSW 14 45462236 missense probably benign 0.01
R5921:Fermt2 UTSW 14 45464746 missense probably damaging 1.00
R6063:Fermt2 UTSW 14 45459881 missense possibly damaging 0.77
R6216:Fermt2 UTSW 14 45459881 missense possibly damaging 0.77
R6254:Fermt2 UTSW 14 45476059 missense probably damaging 1.00
R6964:Fermt2 UTSW 14 45465142 missense probably damaging 0.99
R7574:Fermt2 UTSW 14 45469325 missense probably damaging 1.00
Posted On2016-08-02