Incidental Mutation 'R4578:Frmd4a'
ID 343372
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 041800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4578 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4608490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 786 (A786E)
Ref Sequence ENSEMBL: ENSMUSP00000089079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000176828] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000075767
AA Change: A775E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: A775E

DomainStartEndE-ValueType
B41 1 206 3.24e-40 SMART
FERM_C 210 311 7.69e-27 SMART
Pfam:DUF3338 340 477 1.9e-63 PFAM
low complexity region 558 571 N/A INTRINSIC
low complexity region 610 623 N/A INTRINSIC
low complexity region 732 741 N/A INTRINSIC
low complexity region 764 785 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
low complexity region 924 947 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000091497
AA Change: A786E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: A786E

DomainStartEndE-ValueType
B41 12 217 3.24e-40 SMART
FERM_C 221 322 7.69e-27 SMART
Pfam:DUF3338 352 487 6.3e-61 PFAM
low complexity region 569 582 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
low complexity region 743 752 N/A INTRINSIC
low complexity region 775 796 N/A INTRINSIC
low complexity region 801 812 N/A INTRINSIC
low complexity region 935 958 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176828
AA Change: A481E

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: A481E

DomainStartEndE-ValueType
Pfam:DUF3338 46 183 4.1e-64 PFAM
low complexity region 264 277 N/A INTRINSIC
low complexity region 316 329 N/A INTRINSIC
low complexity region 438 447 N/A INTRINSIC
low complexity region 470 491 N/A INTRINSIC
low complexity region 496 507 N/A INTRINSIC
low complexity region 630 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177457
AA Change: A790E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: A790E

DomainStartEndE-ValueType
B41 16 221 3.24e-40 SMART
FERM_C 225 326 7.69e-27 SMART
Pfam:DUF3338 355 492 3.9e-63 PFAM
low complexity region 573 586 N/A INTRINSIC
low complexity region 625 638 N/A INTRINSIC
low complexity region 747 756 N/A INTRINSIC
low complexity region 779 800 N/A INTRINSIC
low complexity region 805 816 N/A INTRINSIC
low complexity region 939 962 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,537 (GRCm39) Y440* probably null Het
Aldh3b3 A T 19: 4,014,832 (GRCm39) T110S probably benign Het
Atp2b2 T C 6: 113,737,672 (GRCm39) T901A probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bfar A T 16: 13,505,307 (GRCm39) I106F probably benign Het
Btbd10 T G 7: 112,921,959 (GRCm39) I301L possibly damaging Het
Card14 G A 11: 119,217,567 (GRCm39) R400H probably benign Het
Ccdc80 A G 16: 44,915,849 (GRCm39) R202G probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cmtm7 A C 9: 114,592,351 (GRCm39) I82S probably benign Het
Cngb3 T A 4: 19,425,613 (GRCm39) W474R probably damaging Het
Coq9 T C 8: 95,580,234 (GRCm39) V285A probably benign Het
Cp A G 3: 20,028,052 (GRCm39) E486G probably damaging Het
Crybg3 C T 16: 59,350,564 (GRCm39) C892Y probably damaging Het
Cttn A T 7: 144,008,453 (GRCm39) F176L probably damaging Het
Cytip T A 2: 58,050,024 (GRCm39) N15I possibly damaging Het
Dgkb A G 12: 38,477,492 (GRCm39) E634G possibly damaging Het
Duox1 A G 2: 122,164,258 (GRCm39) E906G probably benign Het
Efcab6 A T 15: 83,817,369 (GRCm39) S735T probably benign Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Ercc5 T A 1: 44,187,308 (GRCm39) V29E probably benign Het
Ftcd A C 10: 76,425,092 (GRCm39) E524D probably benign Het
Gfod2 T C 8: 106,454,878 (GRCm39) M1V probably null Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Gsta4 A T 9: 78,113,302 (GRCm39) R127S probably benign Het
Hcn2 G A 10: 79,560,282 (GRCm39) probably null Het
Hectd1 A G 12: 51,798,715 (GRCm39) V2135A probably damaging Het
Hoxc6 A G 15: 102,918,093 (GRCm39) D19G probably benign Het
Hydin A T 8: 110,993,971 (GRCm39) T2S unknown Het
Ifna14 A T 4: 88,489,747 (GRCm39) S97T possibly damaging Het
Igkv17-127 T C 6: 67,838,183 (GRCm39) L14P unknown Het
Il17rb A G 14: 29,724,356 (GRCm39) V166A probably damaging Het
Iqca1 T A 1: 90,001,472 (GRCm39) I520F probably damaging Het
Kcnv2 G T 19: 27,300,994 (GRCm39) V282L probably benign Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Lrfn5 A G 12: 61,890,763 (GRCm39) D684G probably benign Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mis18bp1 T C 12: 65,200,655 (GRCm39) Y124C probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh2 T A 11: 67,064,084 (GRCm39) V48D possibly damaging Het
Nat10 A G 2: 103,584,417 (GRCm39) M120T probably damaging Het
Nf1 T C 11: 79,336,585 (GRCm39) S1065P probably damaging Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Pced1a A C 2: 130,264,596 (GRCm39) L78R probably damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Pomgnt2 G A 9: 121,812,131 (GRCm39) R217C probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rngtt A G 4: 33,339,050 (GRCm39) E285G probably benign Het
Sclt1 G A 3: 41,625,900 (GRCm39) Q356* probably null Het
Scn2b T C 9: 45,037,460 (GRCm39) F169S possibly damaging Het
Sfta2 C T 17: 35,960,775 (GRCm39) probably benign Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Sspo A C 6: 48,440,307 (GRCm39) D1541A possibly damaging Het
Strc G A 2: 121,208,484 (GRCm39) L296F possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Taf6l C A 19: 8,761,335 (GRCm39) R10L possibly damaging Het
Tbx3 G T 5: 119,820,841 (GRCm39) R617L probably damaging Het
Tnrc6a A G 7: 122,783,444 (GRCm39) R1471G possibly damaging Het
Togaram1 T C 12: 65,067,100 (GRCm39) L1714P probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Vcp A T 4: 42,984,565 (GRCm39) M442K probably benign Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Vmn2r52 A T 7: 9,904,617 (GRCm39) H407Q probably damaging Het
Vps13a A T 19: 16,659,474 (GRCm39) D1684E probably damaging Het
Wdr49 T C 3: 75,242,550 (GRCm39) M380V probably benign Het
Other mutations in Frmd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Frmd4a APN 2 4,599,525 (GRCm39) missense probably benign 0.00
IGL00508:Frmd4a APN 2 4,599,545 (GRCm39) nonsense probably null
IGL01331:Frmd4a APN 2 4,607,036 (GRCm39) missense probably benign 0.32
IGL01774:Frmd4a APN 2 4,540,047 (GRCm39) splice site probably benign
IGL01909:Frmd4a APN 2 4,608,844 (GRCm39) missense probably benign 0.11
IGL02170:Frmd4a APN 2 4,570,988 (GRCm39) missense probably damaging 0.99
IGL02269:Frmd4a APN 2 4,609,045 (GRCm39) missense probably benign 0.19
IGL02377:Frmd4a APN 2 4,539,385 (GRCm39) missense possibly damaging 0.47
IGL03308:Frmd4a APN 2 4,502,837 (GRCm39) missense possibly damaging 0.95
R0066:Frmd4a UTSW 2 4,477,963 (GRCm39) missense probably damaging 1.00
R0066:Frmd4a UTSW 2 4,477,963 (GRCm39) missense probably damaging 1.00
R0081:Frmd4a UTSW 2 4,577,252 (GRCm39) critical splice donor site probably null
R0128:Frmd4a UTSW 2 4,608,903 (GRCm39) missense probably damaging 0.98
R0130:Frmd4a UTSW 2 4,608,903 (GRCm39) missense probably damaging 0.98
R0376:Frmd4a UTSW 2 4,577,198 (GRCm39) missense probably damaging 0.97
R0529:Frmd4a UTSW 2 4,610,834 (GRCm39) missense probably damaging 1.00
R0549:Frmd4a UTSW 2 4,608,778 (GRCm39) missense possibly damaging 0.76
R1593:Frmd4a UTSW 2 4,477,999 (GRCm39) missense probably damaging 1.00
R1959:Frmd4a UTSW 2 4,539,997 (GRCm39) missense probably damaging 1.00
R2002:Frmd4a UTSW 2 4,577,176 (GRCm39) missense probably damaging 1.00
R2100:Frmd4a UTSW 2 4,610,834 (GRCm39) missense probably damaging 1.00
R2310:Frmd4a UTSW 2 4,577,210 (GRCm39) frame shift probably null
R2340:Frmd4a UTSW 2 4,591,187 (GRCm39) missense probably damaging 1.00
R2426:Frmd4a UTSW 2 4,534,673 (GRCm39) missense probably damaging 1.00
R2680:Frmd4a UTSW 2 4,539,364 (GRCm39) missense probably damaging 1.00
R3409:Frmd4a UTSW 2 4,157,839 (GRCm39) intron probably benign
R3772:Frmd4a UTSW 2 4,595,433 (GRCm39) missense probably damaging 0.99
R3773:Frmd4a UTSW 2 4,595,433 (GRCm39) missense probably damaging 0.99
R3932:Frmd4a UTSW 2 4,542,071 (GRCm39) missense probably damaging 1.00
R4094:Frmd4a UTSW 2 4,615,843 (GRCm39) missense probably damaging 1.00
R4226:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4299:Frmd4a UTSW 2 4,337,882 (GRCm39) missense probably benign 0.02
R4304:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4306:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4307:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4346:Frmd4a UTSW 2 4,612,844 (GRCm39) missense possibly damaging 0.92
R4360:Frmd4a UTSW 2 4,606,052 (GRCm39) missense probably damaging 1.00
R4384:Frmd4a UTSW 2 4,599,374 (GRCm39) nonsense probably null
R4547:Frmd4a UTSW 2 4,477,956 (GRCm39) missense probably damaging 1.00
R4575:Frmd4a UTSW 2 4,608,490 (GRCm39) missense possibly damaging 0.83
R4577:Frmd4a UTSW 2 4,608,490 (GRCm39) missense possibly damaging 0.83
R4688:Frmd4a UTSW 2 4,542,122 (GRCm39) missense possibly damaging 0.81
R4764:Frmd4a UTSW 2 4,608,259 (GRCm39) missense probably damaging 1.00
R4826:Frmd4a UTSW 2 4,606,108 (GRCm39) missense probably damaging 1.00
R4879:Frmd4a UTSW 2 4,534,628 (GRCm39) missense probably damaging 1.00
R5053:Frmd4a UTSW 2 4,608,732 (GRCm39) missense probably damaging 1.00
R5392:Frmd4a UTSW 2 4,599,384 (GRCm39) missense probably damaging 1.00
R5733:Frmd4a UTSW 2 4,305,768 (GRCm39) missense possibly damaging 0.53
R5762:Frmd4a UTSW 2 4,488,876 (GRCm39) missense probably damaging 1.00
R5920:Frmd4a UTSW 2 4,337,927 (GRCm39) missense probably benign 0.02
R5932:Frmd4a UTSW 2 4,534,650 (GRCm39) missense probably damaging 1.00
R6117:Frmd4a UTSW 2 4,607,060 (GRCm39) missense possibly damaging 0.66
R6328:Frmd4a UTSW 2 4,595,509 (GRCm39) missense probably damaging 0.99
R6622:Frmd4a UTSW 2 4,610,873 (GRCm39) missense probably benign 0.00
R6903:Frmd4a UTSW 2 4,591,267 (GRCm39) missense probably damaging 1.00
R7065:Frmd4a UTSW 2 4,570,923 (GRCm39)
R7098:Frmd4a UTSW 2 4,577,244 (GRCm39) missense probably damaging 1.00
R7258:Frmd4a UTSW 2 4,305,764 (GRCm39) missense probably benign
R7336:Frmd4a UTSW 2 4,478,025 (GRCm39) missense possibly damaging 0.92
R7582:Frmd4a UTSW 2 4,599,408 (GRCm39) frame shift probably null
R7607:Frmd4a UTSW 2 4,596,747 (GRCm39) nonsense probably null
R7697:Frmd4a UTSW 2 4,488,892 (GRCm39) missense probably damaging 1.00
R7750:Frmd4a UTSW 2 4,606,160 (GRCm39) missense probably benign 0.14
R7795:Frmd4a UTSW 2 4,595,506 (GRCm39) missense probably damaging 1.00
R7848:Frmd4a UTSW 2 4,596,728 (GRCm39) intron probably benign
R7899:Frmd4a UTSW 2 4,608,900 (GRCm39) missense probably damaging 1.00
R8024:Frmd4a UTSW 2 4,608,513 (GRCm39) missense probably damaging 1.00
R8399:Frmd4a UTSW 2 4,577,244 (GRCm39) missense probably damaging 1.00
R8778:Frmd4a UTSW 2 4,478,026 (GRCm39) missense probably damaging 1.00
R8876:Frmd4a UTSW 2 4,606,111 (GRCm39) missense probably damaging 0.99
R9074:Frmd4a UTSW 2 4,608,765 (GRCm39) missense probably damaging 1.00
R9075:Frmd4a UTSW 2 4,608,765 (GRCm39) missense probably damaging 1.00
R9076:Frmd4a UTSW 2 4,608,765 (GRCm39) missense probably damaging 1.00
R9105:Frmd4a UTSW 2 4,539,994 (GRCm39) missense probably damaging 0.96
R9213:Frmd4a UTSW 2 4,608,372 (GRCm39) missense probably damaging 1.00
R9227:Frmd4a UTSW 2 4,612,844 (GRCm39) missense possibly damaging 0.92
R9230:Frmd4a UTSW 2 4,612,844 (GRCm39) missense possibly damaging 0.92
R9235:Frmd4a UTSW 2 4,599,366 (GRCm39) missense probably damaging 0.99
R9266:Frmd4a UTSW 2 4,610,846 (GRCm39) missense probably damaging 0.99
R9301:Frmd4a UTSW 2 4,157,904 (GRCm39) missense probably benign 0.27
R9307:Frmd4a UTSW 2 4,609,044 (GRCm39) missense probably benign
R9365:Frmd4a UTSW 2 4,606,973 (GRCm39) missense probably benign 0.01
R9476:Frmd4a UTSW 2 4,608,324 (GRCm39) missense probably benign 0.32
R9484:Frmd4a UTSW 2 4,609,026 (GRCm39) missense possibly damaging 0.49
R9510:Frmd4a UTSW 2 4,608,324 (GRCm39) missense probably benign 0.32
R9513:Frmd4a UTSW 2 4,608,711 (GRCm39) missense probably damaging 0.99
Z1176:Frmd4a UTSW 2 4,502,832 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGACTCGTAGCAGCAATG -3'
(R):5'- GAGGTCTTAAACTGCGCTTTGAC -3'

Sequencing Primer
(F):5'- AATGGCTCAGACCCCATGG -3'
(R):5'- AAACTGCGCTTTGACGCTGTAG -3'
Posted On 2015-09-24