Incidental Mutation 'R6031:Frmd3'
ID 486260
Institutional Source Beutler Lab
Gene Symbol Frmd3
Ensembl Gene ENSMUSG00000049122
Gene Name FERM domain containing 3
Synonyms 4.1O, EPB41L4O, 9430066I12Rik, P410
MMRRC Submission 044203-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R6031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 73931679-74120451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74105688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 445 (Y445H)
Ref Sequence ENSEMBL: ENSMUSP00000095615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084474] [ENSMUST00000098006]
AlphaFold Q8BHD4
Predicted Effect probably damaging
Transcript: ENSMUST00000084474
AA Change: Y445H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: Y445H

DomainStartEndE-ValueType
B41 28 225 5.17e-57 SMART
FERM_C 229 316 1.93e-18 SMART
FA 322 368 4.1e-13 SMART
low complexity region 391 401 N/A INTRINSIC
transmembrane domain 530 552 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098006
AA Change: Y445H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: Y445H

DomainStartEndE-ValueType
B41 28 225 5.17e-57 SMART
FERM_C 229 316 1.93e-18 SMART
FA 322 368 4.1e-13 SMART
low complexity region 391 401 N/A INTRINSIC
transmembrane domain 529 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154134
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,084 (GRCm39) Y304H possibly damaging Het
Add2 A G 6: 86,075,655 (GRCm39) E268G probably damaging Het
Akr1b1 A C 6: 34,289,609 (GRCm39) V67G probably benign Het
Alms1 A T 6: 85,599,937 (GRCm39) N1588Y probably damaging Het
Arhgap23 A T 11: 97,366,965 (GRCm39) D1082V probably damaging Het
Asb6 A G 2: 30,714,207 (GRCm39) V301A probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atg7 T A 6: 114,648,194 (GRCm39) C31S probably benign Het
Camsap2 A T 1: 136,208,176 (GRCm39) N1105K possibly damaging Het
Ccdc125 C T 13: 100,820,877 (GRCm39) probably null Het
Ccdc63 T C 5: 122,267,799 (GRCm39) I56V possibly damaging Het
Cpd T C 11: 76,681,714 (GRCm39) E1143G probably benign Het
Cpt1a T A 19: 3,421,556 (GRCm39) probably null Het
Creb3l2 A T 6: 37,311,369 (GRCm39) D473E probably benign Het
Disp2 G T 2: 118,620,275 (GRCm39) V336L probably benign Het
Efr3b A G 12: 4,017,106 (GRCm39) I782T possibly damaging Het
Fam98a A G 17: 75,846,427 (GRCm39) V230A probably damaging Het
Fat3 T A 9: 15,899,788 (GRCm39) T3082S probably benign Het
Galt G A 4: 41,757,202 (GRCm39) R185Q probably benign Het
Gatb T C 3: 85,520,818 (GRCm39) I309T possibly damaging Het
Gfi1b G A 2: 28,503,820 (GRCm39) Q127* probably null Het
Gfpt1 C A 6: 87,063,302 (GRCm39) T563N probably damaging Het
Gria1 A G 11: 57,108,608 (GRCm39) D237G probably damaging Het
Hspbp1 A T 7: 4,666,465 (GRCm39) V305D probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iars1 T C 13: 49,859,307 (GRCm39) V9A probably damaging Het
Ipo4 G A 14: 55,869,596 (GRCm39) P355S probably damaging Het
Jade2 G T 11: 51,717,413 (GRCm39) C314* probably null Het
Kri1 T C 9: 21,186,565 (GRCm39) E597G probably benign Het
Mcub A G 3: 129,720,038 (GRCm39) Y152H probably damaging Het
Med23 C T 10: 24,779,646 (GRCm39) R542* probably null Het
Ndc80 T C 17: 71,818,483 (GRCm39) N291S probably benign Het
Nop2 T C 6: 125,110,529 (GRCm39) probably null Het
Nrxn1 T C 17: 90,896,218 (GRCm39) N984S probably damaging Het
Ntm A C 9: 28,920,671 (GRCm39) L86R probably damaging Het
Numa1 T A 7: 101,661,219 (GRCm39) D1847E possibly damaging Het
Odf2l A G 3: 144,845,624 (GRCm39) Q334R probably damaging Het
Or10ak11 A T 4: 118,687,588 (GRCm39) probably null Het
Or2ag2 C T 7: 106,485,134 (GRCm39) V297I possibly damaging Het
Or4a39 T A 2: 89,237,316 (GRCm39) T36S probably damaging Het
Or5ac17 T C 16: 59,036,296 (GRCm39) R227G probably benign Het
Or6ae1 A T 7: 139,742,722 (GRCm39) V47E possibly damaging Het
Or6c203 A G 10: 129,010,224 (GRCm39) V222A probably benign Het
Pacc1 A G 1: 191,073,037 (GRCm39) R153G probably benign Het
Pcdhb19 A T 18: 37,630,776 (GRCm39) K190N probably damaging Het
Pdik1l A G 4: 134,006,352 (GRCm39) F197L probably damaging Het
Rnf113a2 T C 12: 84,464,764 (GRCm39) F219L probably damaging Het
Rnf208 A C 2: 25,133,776 (GRCm39) T157P probably damaging Het
RP23-145I16.3 A T 7: 141,930,451 (GRCm39) C364S probably damaging Het
Scn8a A T 15: 100,881,865 (GRCm39) D644V probably damaging Het
Thbs3 T A 3: 89,125,401 (GRCm39) C204S probably damaging Het
Tlr3 A G 8: 45,851,565 (GRCm39) I444T probably damaging Het
Trpm8 A T 1: 88,282,191 (GRCm39) I696F possibly damaging Het
Ttn A T 2: 76,660,941 (GRCm39) V7422D possibly damaging Het
Ufl1 A G 4: 25,278,038 (GRCm39) V139A probably benign Het
Uggt2 A T 14: 119,308,238 (GRCm39) V381D probably benign Het
Vgll3 T A 16: 65,636,367 (GRCm39) Y173N probably damaging Het
Vmn1r9 A G 6: 57,048,158 (GRCm39) T78A probably benign Het
Vps13b T A 15: 35,472,114 (GRCm39) L806M probably damaging Het
Vps13d A C 4: 144,895,079 (GRCm39) H394Q probably benign Het
Wdr53 T A 16: 32,075,536 (GRCm39) V247D probably damaging Het
Wdr81 A T 11: 75,338,695 (GRCm39) L1488Q probably damaging Het
Zc3h6 A G 2: 128,809,732 (GRCm39) D3G possibly damaging Het
Zfp93 G T 7: 23,975,725 (GRCm39) C570F probably damaging Het
Zfp943 C T 17: 22,212,357 (GRCm39) T481I probably benign Het
Other mutations in Frmd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Frmd3 APN 4 73,992,357 (GRCm39) missense possibly damaging 0.62
IGL01774:Frmd3 APN 4 74,106,075 (GRCm39) missense probably damaging 1.00
IGL02213:Frmd3 APN 4 74,054,109 (GRCm39) missense probably benign 0.36
IGL02479:Frmd3 APN 4 74,105,752 (GRCm39) missense probably benign 0.30
IGL03248:Frmd3 APN 4 74,046,455 (GRCm39) missense possibly damaging 0.71
R0765:Frmd3 UTSW 4 74,080,004 (GRCm39) missense probably damaging 1.00
R1411:Frmd3 UTSW 4 74,071,858 (GRCm39) missense probably damaging 1.00
R1535:Frmd3 UTSW 4 73,931,995 (GRCm39) start gained probably benign
R1990:Frmd3 UTSW 4 74,105,676 (GRCm39) missense probably damaging 1.00
R3898:Frmd3 UTSW 4 73,992,346 (GRCm39) missense probably damaging 1.00
R4377:Frmd3 UTSW 4 74,046,535 (GRCm39) critical splice donor site probably null
R4616:Frmd3 UTSW 4 74,106,109 (GRCm39) missense probably benign 0.15
R4965:Frmd3 UTSW 4 74,071,837 (GRCm39) missense probably damaging 1.00
R5024:Frmd3 UTSW 4 74,016,381 (GRCm39) missense probably benign 0.00
R5104:Frmd3 UTSW 4 74,063,315 (GRCm39) missense probably damaging 1.00
R5418:Frmd3 UTSW 4 74,079,935 (GRCm39) critical splice acceptor site probably null
R5434:Frmd3 UTSW 4 74,106,033 (GRCm39) missense probably damaging 1.00
R5878:Frmd3 UTSW 4 74,071,847 (GRCm39) missense probably damaging 1.00
R5999:Frmd3 UTSW 4 74,088,928 (GRCm39) missense possibly damaging 0.49
R6031:Frmd3 UTSW 4 74,105,688 (GRCm39) missense probably damaging 0.99
R6616:Frmd3 UTSW 4 74,105,725 (GRCm39) missense probably damaging 0.97
R6813:Frmd3 UTSW 4 74,077,482 (GRCm39) missense probably benign 0.00
R6941:Frmd3 UTSW 4 74,016,363 (GRCm39) missense probably benign 0.20
R7233:Frmd3 UTSW 4 73,932,023 (GRCm39) missense probably benign 0.09
R7334:Frmd3 UTSW 4 74,079,955 (GRCm39) missense probably benign 0.02
R7429:Frmd3 UTSW 4 74,063,342 (GRCm39) missense probably damaging 0.98
R7430:Frmd3 UTSW 4 74,063,342 (GRCm39) missense probably damaging 0.98
R7979:Frmd3 UTSW 4 74,071,852 (GRCm39) missense probably damaging 1.00
R8693:Frmd3 UTSW 4 74,080,286 (GRCm39) missense probably damaging 0.97
R8994:Frmd3 UTSW 4 74,088,985 (GRCm39) missense probably benign
R9065:Frmd3 UTSW 4 74,063,269 (GRCm39) critical splice acceptor site probably null
R9351:Frmd3 UTSW 4 74,054,068 (GRCm39) missense probably damaging 1.00
R9498:Frmd3 UTSW 4 74,038,055 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GAGCACTTATGATATAGCATGTTGC -3'
(R):5'- CATGACAAAGCTTGGCGAG -3'

Sequencing Primer
(F):5'- AGAGAATGCTACTGAACAATTTCAC -3'
(R):5'- TGGCGAGCTTCCTTCAGC -3'
Posted On 2017-08-16