Incidental Mutation 'R0662:Frmd6'
ID 61915
Institutional Source Beutler Lab
Gene Symbol Frmd6
Ensembl Gene ENSMUSG00000048285
Gene Name FERM domain containing 6
Synonyms 4930488L10Rik, 2610019M19Rik
MMRRC Submission 038847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0662 (G1)
Quality Score 180
Status Not validated
Chromosome 12
Chromosomal Location 70872288-70949008 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 70946218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 549 (R549*)
Ref Sequence ENSEMBL: ENSMUSP00000052202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057859]
AlphaFold Q8C0V9
Predicted Effect probably null
Transcript: ENSMUST00000057859
AA Change: R549*
SMART Domains Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
AA Change: R549*

DomainStartEndE-ValueType
B41 13 234 2.41e-25 SMART
FERM_C 241 332 9.63e-19 SMART
low complexity region 365 375 N/A INTRINSIC
low complexity region 382 395 N/A INTRINSIC
low complexity region 425 442 N/A INTRINSIC
low complexity region 506 512 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222802
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,898,338 (GRCm39) S241P probably benign Het
Ankrd53 G T 6: 83,740,625 (GRCm39) V83L probably damaging Het
Armcx2 G A X: 133,706,385 (GRCm39) T416I possibly damaging Het
C4b G A 17: 34,949,862 (GRCm39) R1441C probably damaging Het
Cacng3 T C 7: 122,367,582 (GRCm39) I154T probably damaging Het
Cand2 A G 6: 115,764,171 (GRCm39) D315G probably benign Het
Celsr2 A T 3: 108,305,836 (GRCm39) S2089R probably damaging Het
Chd9 A C 8: 91,704,304 (GRCm39) K247Q probably damaging Het
Chi3l1 A C 1: 134,116,311 (GRCm39) S263R probably damaging Het
Clec12b A C 6: 129,353,200 (GRCm39) C262W probably damaging Het
Cpsf7 T C 19: 10,503,372 (GRCm39) M1T probably null Het
Cul3 T C 1: 80,249,282 (GRCm39) D597G probably damaging Het
Dcaf11 T C 14: 55,802,964 (GRCm39) V251A possibly damaging Het
Dennd2b G T 7: 109,156,633 (GRCm39) P39Q probably damaging Het
Eno2 A T 6: 124,740,774 (GRCm39) F218I probably damaging Het
Fyb2 G A 4: 104,852,895 (GRCm39) S461N possibly damaging Het
Gm5709 A T 3: 59,514,164 (GRCm39) noncoding transcript Het
Hormad1 T C 3: 95,482,910 (GRCm39) I132T probably benign Het
Itga7 G T 10: 128,789,400 (GRCm39) R981L probably damaging Het
Itgbl1 T A 14: 124,065,306 (GRCm39) N153K probably damaging Het
Itih1 T C 14: 30,655,317 (GRCm39) E626G possibly damaging Het
Kat6b AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 14: 21,712,417 (GRCm39) probably benign Het
Kcna2 A T 3: 107,012,717 (GRCm39) T433S probably benign Het
Map4k5 A G 12: 69,859,927 (GRCm39) V673A probably damaging Het
Mmp27 T A 9: 7,577,651 (GRCm39) V281E probably benign Het
Nr2c1 A T 10: 94,026,600 (GRCm39) I492F probably damaging Het
Or14c39 A G 7: 86,343,838 (GRCm39) Y58C possibly damaging Het
Or2ag19 A T 7: 106,443,856 (GRCm39) I13F probably benign Het
Or2r3 C T 6: 42,448,708 (GRCm39) V135M possibly damaging Het
Or2y3 A G 17: 38,393,824 (GRCm39) I15T probably benign Het
Or7d10 G C 9: 19,831,796 (GRCm39) C97S probably damaging Het
Or7e170 T C 9: 19,795,248 (GRCm39) M118V probably benign Het
Or8b47 T A 9: 38,435,322 (GRCm39) M98K probably damaging Het
Pank3 T C 11: 35,669,477 (GRCm39) M237T probably damaging Het
Plekhh1 A G 12: 79,125,767 (GRCm39) T1268A probably benign Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Rhcg C T 7: 79,249,477 (GRCm39) V310M probably damaging Het
Ryr1 A T 7: 28,799,614 (GRCm39) D906E probably damaging Het
Sez6l A T 5: 112,621,288 (GRCm39) L262Q probably damaging Het
Shprh G A 10: 11,062,591 (GRCm39) V1233I probably damaging Het
Slc3a1 A G 17: 85,344,635 (GRCm39) E267G possibly damaging Het
Slc5a5 T A 8: 71,336,519 (GRCm39) T616S probably benign Het
Syne3 T G 12: 104,927,769 (GRCm39) E318A probably benign Het
Tecpr2 A G 12: 110,862,662 (GRCm39) T25A probably benign Het
Ubxn1 T A 19: 8,852,561 (GRCm39) probably null Het
Unc5b C A 10: 60,608,362 (GRCm39) R616L possibly damaging Het
Ush2a A G 1: 188,083,290 (GRCm39) T278A probably benign Het
Utp14b A G 1: 78,642,716 (GRCm39) T205A probably damaging Het
Vmn1r219 T C 13: 23,347,623 (GRCm39) S271P possibly damaging Het
Vmn2r76 C T 7: 85,879,578 (GRCm39) V241M probably benign Het
Zbtb24 G A 10: 41,338,275 (GRCm39) G429D probably damaging Het
Zdhhc2 T C 8: 40,900,139 (GRCm39) S68P probably damaging Het
Zfp719 G A 7: 43,233,678 (GRCm39) M32I possibly damaging Het
Zfp975 T C 7: 42,311,950 (GRCm39) N221S probably benign Het
Other mutations in Frmd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0629:Frmd6 UTSW 12 70,930,536 (GRCm39) missense probably damaging 1.00
R0747:Frmd6 UTSW 12 70,910,830 (GRCm39) missense probably benign
R1144:Frmd6 UTSW 12 70,923,942 (GRCm39) missense probably damaging 1.00
R1366:Frmd6 UTSW 12 70,934,663 (GRCm39) splice site probably benign
R1763:Frmd6 UTSW 12 70,940,396 (GRCm39) missense possibly damaging 0.90
R2135:Frmd6 UTSW 12 70,941,771 (GRCm39) missense probably benign 0.00
R2342:Frmd6 UTSW 12 70,930,592 (GRCm39) nonsense probably null
R3963:Frmd6 UTSW 12 70,940,638 (GRCm39) missense probably benign 0.00
R3982:Frmd6 UTSW 12 70,934,608 (GRCm39) missense probably damaging 1.00
R4010:Frmd6 UTSW 12 70,946,327 (GRCm39) missense probably benign
R4416:Frmd6 UTSW 12 70,924,023 (GRCm39) missense probably benign 0.04
R4823:Frmd6 UTSW 12 70,919,349 (GRCm39) missense probably benign 0.22
R4861:Frmd6 UTSW 12 70,940,500 (GRCm39) missense probably damaging 0.98
R5368:Frmd6 UTSW 12 70,910,874 (GRCm39) nonsense probably null
R5806:Frmd6 UTSW 12 70,936,794 (GRCm39) missense probably damaging 1.00
R6226:Frmd6 UTSW 12 70,910,685 (GRCm39) start gained probably benign
R6253:Frmd6 UTSW 12 70,923,987 (GRCm39) missense probably damaging 0.99
R6781:Frmd6 UTSW 12 70,946,417 (GRCm39) missense possibly damaging 0.68
R7051:Frmd6 UTSW 12 70,944,170 (GRCm39) missense possibly damaging 0.78
R7156:Frmd6 UTSW 12 70,923,983 (GRCm39) missense probably damaging 1.00
R7481:Frmd6 UTSW 12 70,933,829 (GRCm39) missense probably damaging 1.00
R8888:Frmd6 UTSW 12 70,940,646 (GRCm39) missense possibly damaging 0.83
R9368:Frmd6 UTSW 12 70,933,865 (GRCm39) critical splice donor site probably null
U24488:Frmd6 UTSW 12 70,940,653 (GRCm39) missense probably damaging 0.97
X0022:Frmd6 UTSW 12 70,910,882 (GRCm39) missense probably damaging 1.00
Z1088:Frmd6 UTSW 12 70,927,452 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TACACTAGGAGGATCGCCACACAG -3'
(R):5'- ACTTCGTCGTGAGTAAGGTCCAGAG -3'

Sequencing Primer
(F):5'- CCTCAGGCATTGTGATATACTCAGAG -3'
(R):5'- TCGTGAGTAAGGTCCAGAGAAAAG -3'
Posted On 2013-07-30