Incidental Mutation 'R7848:Frmd4a'
ID 628674
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 045902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R7848 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 4596728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000175944] [ENSMUST00000176828] [ENSMUST00000176864] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect probably benign
Transcript: ENSMUST00000075767
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657

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 benign
Transcript: ENSMUST00000091497
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657

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: ENSMUST00000175944
SMART Domains Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657

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 probably benign
Transcript: ENSMUST00000176828
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657

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 unknown
Transcript: ENSMUST00000176864
AA Change: T150A
SMART Domains Protein: ENSMUSP00000135057
Gene: ENSMUSG00000026657
AA Change: T150A

DomainStartEndE-ValueType
Pfam:DUF3338 35 150 2.6e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177457
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657

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 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,340,007 (GRCm39) A2T probably damaging Het
Abca3 G T 17: 24,603,506 (GRCm39) G566V probably damaging Het
Aff4 C A 11: 53,295,339 (GRCm39) N846K probably benign Het
Aldh1l2 C T 10: 83,335,707 (GRCm39) R714Q probably benign Het
Cbln1 T C 8: 88,198,328 (GRCm39) T126A probably damaging Het
Ccdc85a A G 11: 28,346,123 (GRCm39) S446P possibly damaging Het
Ccdc87 A G 19: 4,891,536 (GRCm39) Q676R probably damaging Het
Cenatac A G 9: 44,324,939 (GRCm39) S139P probably damaging Het
Col26a1 T C 5: 136,775,907 (GRCm39) K349E possibly damaging Het
Col6a5 T C 9: 105,805,385 (GRCm39) I1174V unknown Het
Cyth1 TGGGCAA T 11: 118,074,749 (GRCm39) probably null Het
Dmxl1 A G 18: 49,973,557 (GRCm39) D64G possibly damaging Het
Dnajc15 T C 14: 78,077,643 (GRCm39) H114R probably damaging Het
Espl1 T C 15: 102,224,961 (GRCm39) F1390S probably damaging Het
F5 T C 1: 163,989,446 (GRCm39) I116T possibly damaging Het
Fam120b T C 17: 15,626,036 (GRCm39) V463A possibly damaging Het
Fat4 A G 3: 38,942,000 (GRCm39) M298V probably benign Het
Fhad1 A T 4: 141,632,913 (GRCm39) M1197K probably benign Het
Fn1 T A 1: 71,689,760 (GRCm39) I127F probably damaging Het
Gabpb2 A T 3: 95,097,959 (GRCm39) V238E probably damaging Het
Gnpat C A 8: 125,613,630 (GRCm39) Q626K possibly damaging Het
Gstm7 A T 3: 107,835,902 (GRCm39) probably null Het
Gys2 G T 6: 142,391,741 (GRCm39) S507* probably null Het
Ippk T A 13: 49,596,972 (GRCm39) probably null Het
Itga8 T A 2: 12,196,548 (GRCm39) N623I probably damaging Het
Kcnb1 A G 2: 166,948,188 (GRCm39) F220S probably damaging Het
Kiz T A 2: 146,731,100 (GRCm39) S197T probably benign Het
Klhl42 A G 6: 147,009,598 (GRCm39) N479S probably damaging Het
Lims2 A G 18: 32,091,301 (GRCm39) *60W probably null Het
Lrch4 A G 5: 137,632,116 (GRCm39) N124S probably damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Map3k13 T C 16: 21,724,621 (GRCm39) V373A probably damaging Het
Mapkapk5 A G 5: 121,683,232 (GRCm39) I11T probably benign Het
Mroh2b C T 15: 4,967,861 (GRCm39) Q967* probably null Het
Mthfd1l A G 10: 4,033,739 (GRCm39) T709A possibly damaging Het
Muc6 T C 7: 141,232,188 (GRCm39) T939A possibly damaging Het
Ncam2 C T 16: 81,287,267 (GRCm39) H394Y probably benign Het
Ncoa7 A T 10: 30,524,414 (GRCm39) N161K possibly damaging Het
Nr2c1 C T 10: 94,026,508 (GRCm39) S461L probably benign Het
Nrg3 T C 14: 38,390,240 (GRCm39) E323G probably damaging Het
Nufip1 G A 14: 76,351,661 (GRCm39) R172H probably damaging Het
Nup210l A G 3: 90,111,212 (GRCm39) T1705A probably benign Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Ogfr T C 2: 180,234,226 (GRCm39) L99P probably damaging Het
Or10am5 T C 7: 6,517,861 (GRCm39) D189G probably damaging Het
Or51a43 T A 7: 103,717,302 (GRCm39) N312I probably benign Het
Pcare T C 17: 72,056,188 (GRCm39) D1163G probably benign Het
Pcdh18 A T 3: 49,710,446 (GRCm39) S290T possibly damaging Het
Pklr T G 3: 89,050,285 (GRCm39) I378S possibly damaging Het
Rbm12 A T 2: 155,938,136 (GRCm39) M712K probably benign Het
Rnase10 T C 14: 51,246,970 (GRCm39) V116A possibly damaging Het
Scube3 T C 17: 28,384,569 (GRCm39) L621P probably benign Het
Slc35e1 T C 8: 73,246,280 (GRCm39) I51V probably benign Het
Smcr8 A G 11: 60,670,750 (GRCm39) T633A probably benign Het
St18 T C 1: 6,927,669 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,044,275 (GRCm39) I509N probably damaging Het
Tmcc2 T C 1: 132,288,359 (GRCm39) K443E probably damaging Het
Tmem98 T G 11: 80,710,758 (GRCm39) V139G probably damaging Het
Trgv5 G A 13: 19,376,849 (GRCm39) V99I probably damaging Het
Ttll1 T C 15: 83,381,573 (GRCm39) E232G probably damaging Het
Zfp442 T C 2: 150,253,146 (GRCm39) N39D possibly 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
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
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'- GCGACTCATTCATGCTGTGG -3'
(R):5'- TCTGTGACTGCAGGCCTAAG -3'

Sequencing Primer
(F):5'- GACACAGCCTAGCACGTTAGTTATTC -3'
(R):5'- ATCTTCCCACTGACCTGA -3'
Posted On 2020-06-09