Incidental Mutation 'IGL01301:Fermt2'
ID73236
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 #IGL01301
Quality Score
Status
Chromosome14
Chromosomal Location45458795-45530118 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45464863 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 488 (E488G)
Ref Sequence ENSEMBL: ENSMUSP00000044554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045905] [ENSMUST00000141424]
Predicted Effect probably damaging
Transcript: ENSMUST00000045905
AA Change: E488G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: E488G

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: ENSMUST00000141424
SMART Domains Protein: ENSMUSP00000118214
Gene: ENSMUSG00000037712

DomainStartEndE-ValueType
SCOP:d1h4ra3 86 116 2e-3 SMART
Pfam:FERM_M 120 180 5.6e-24 PFAM
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 14,943,919 probably null Het
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 probably benign Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mindy1 T C 3: 95,288,390 L148P probably damaging Het
Mkrn2 C A 6: 115,611,789 Y164* probably null Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Olfr1451 A T 19: 12,999,417 I144F probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Pus7 A G 5: 23,746,424 probably null Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Sfpq T C 4: 127,026,760 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging Het
Other mutations in Fermt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Fermt2 APN 14 45459956 missense possibly damaging 0.94
IGL02719:Fermt2 APN 14 45504656 missense probably damaging 1.00
IGL03182:Fermt2 APN 14 45461768 missense possibly damaging 0.77
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 On2013-10-07