Incidental Mutation 'R7697:Frmd4a'
ID 593690
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R7697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4488892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 79 (E79G)
Ref Sequence ENSEMBL: ENSMUSP00000089079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000115037] [ENSMUST00000175669] [ENSMUST00000175944] [ENSMUST00000176803] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000075767
AA Change: E68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: E68G

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 probably damaging
Transcript: ENSMUST00000091497
AA Change: E79G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: E79G

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 damaging
Transcript: ENSMUST00000115037
AA Change: E68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110689
Gene: ENSMUSG00000026657
AA Change: E68G

DomainStartEndE-ValueType
B41 1 142 9.86e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000175669
AA Change: E98G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657
AA Change: E98G

DomainStartEndE-ValueType
B41 31 236 3.24e-40 SMART
FERM_C 240 341 7.69e-27 SMART
low complexity region 371 387 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175944
AA Change: E116G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: E116G

DomainStartEndE-ValueType
B41 49 254 3.24e-40 SMART
FERM_C 258 359 7.69e-27 SMART
Pfam:DUF3338 388 525 6.5e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176803
AA Change: E69G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135432
Gene: ENSMUSG00000026657
AA Change: E69G

DomainStartEndE-ValueType
Pfam:FERM_N 10 89 5.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177457
AA Change: E83G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: E83G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T C 14: 54,500,216 (GRCm39) V87A probably damaging Het
Acadsb A G 7: 131,031,698 (GRCm39) E178G probably damaging Het
Acoxl A G 2: 127,820,702 (GRCm39) T365A probably benign Het
Adcy8 T G 15: 64,618,850 (GRCm39) I768L probably benign Het
Bloc1s4 A G 5: 36,905,959 (GRCm39) S11P probably benign Het
Brinp2 T C 1: 158,095,496 (GRCm39) I122V probably benign Het
Brwd1 T C 16: 95,847,601 (GRCm39) D673G probably benign Het
Cbx8 C A 11: 118,931,637 (GRCm39) E14* probably null Het
Cep295 T A 9: 15,266,006 (GRCm39) M49L probably benign Het
Cfap157 T C 2: 32,669,765 (GRCm39) N273D probably benign Het
Cntn3 A T 6: 102,185,127 (GRCm39) V663E probably damaging Het
Cntn3 C T 6: 102,185,128 (GRCm39) V663M probably damaging Het
Cspg5 G C 9: 110,085,294 (GRCm39) R488S probably damaging Het
Csrnp2 A T 15: 100,385,953 (GRCm39) M95K probably damaging Het
Dnah3 A T 7: 119,566,657 (GRCm39) V136E Het
Drg2 T A 11: 60,353,003 (GRCm39) I212N probably damaging Het
Egfem1 T C 3: 29,744,346 (GRCm39) probably null Het
Eif1ad18 T C 12: 88,050,749 (GRCm39) Y95H probably damaging Het
Enpep T A 3: 129,102,750 (GRCm39) D402V probably damaging Het
Fanci T A 7: 79,056,040 (GRCm39) probably null Het
Fgd6 T A 10: 93,881,306 (GRCm39) V720D probably damaging Het
Fhod1 T A 8: 106,074,563 (GRCm39) probably benign Het
Flnc T A 6: 29,456,516 (GRCm39) I2238N probably damaging Het
Gabrr2 A T 4: 33,071,358 (GRCm39) Y66F probably benign Het
Ggnbp1 T G 17: 27,249,736 (GRCm39) I192S probably benign Het
Gm32742 C T 9: 51,058,901 (GRCm39) V1039I probably benign Het
H2-D1 T C 17: 35,482,121 (GRCm39) L11P probably damaging Het
Hsd17b4 A G 18: 50,263,208 (GRCm39) Y25C probably damaging Het
Ildr2 C A 1: 166,122,300 (GRCm39) Q248K probably benign Het
Klrb1c T C 6: 128,757,273 (GRCm39) H264R probably benign Het
Lrp11 C T 10: 7,479,983 (GRCm39) A346V probably benign Het
Mast4 G A 13: 102,875,711 (GRCm39) P1319L probably damaging Het
Mcm9 A C 10: 53,491,990 (GRCm39) F392V Het
Med12l C T 3: 59,148,078 (GRCm39) A965V probably damaging Het
Mrps7 A G 11: 115,495,701 (GRCm39) T80A probably benign Het
Mtor T A 4: 148,624,765 (GRCm39) Y2125* probably null Het
Myoc A G 1: 162,475,049 (GRCm39) E200G probably damaging Het
Natd1 A G 11: 60,797,808 (GRCm39) V39A probably damaging Het
Notch4 C T 17: 34,789,159 (GRCm39) T486I probably damaging Het
Or10am5 T C 7: 6,517,645 (GRCm39) Y261C probably damaging Het
Or10n1 A G 9: 39,525,157 (GRCm39) Q98R probably damaging Het
Or2c1 G A 16: 3,657,430 (GRCm39) V198M probably damaging Het
Or5aq6 T A 2: 86,923,162 (GRCm39) H193L probably benign Het
Pdss2 T A 10: 43,221,544 (GRCm39) I152N probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plec T C 15: 76,065,885 (GRCm39) E1395G unknown Het
Polr2b T C 5: 77,468,059 (GRCm39) Y120H probably damaging Het
Pyroxd2 C T 19: 42,735,805 (GRCm39) C99Y probably benign Het
Rela T C 19: 5,691,630 (GRCm39) V268A probably damaging Het
Rgs3 C T 4: 62,575,379 (GRCm39) P589S probably benign Het
Rtn1 A G 12: 72,455,151 (GRCm39) S59P probably benign Het
Siae A G 9: 37,544,950 (GRCm39) Y315C probably damaging Het
Susd3 C A 13: 49,391,074 (GRCm39) W147L probably damaging Het
Ttn A T 2: 76,702,047 (GRCm39) probably null Het
Ubr3 A G 2: 69,728,030 (GRCm39) Y131C probably damaging Het
Unc80 C T 1: 66,677,104 (GRCm39) P2011L possibly damaging Het
Usp9y T C Y: 1,316,990 (GRCm39) E1853G possibly damaging Het
Wls C A 3: 159,616,955 (GRCm39) H331Q probably benign Het
Xkr6 C A 14: 63,844,628 (GRCm39) P217Q probably damaging 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
R4578: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
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'- AGACAATTCCTGTGTGTTCCTC -3'
(R):5'- CCATACGGGGAGTTTTCCTC -3'

Sequencing Primer
(F):5'- TGTGTGTTCCTCCAATACTGG -3'
(R):5'- CTTGGAATACAGCTGTGCTATGAC -3'
Posted On 2019-11-12