Incidental Mutation 'R6850:Mcf2l'
ID 535596
Institutional Source Beutler Lab
Gene Symbol Mcf2l
Ensembl Gene ENSMUSG00000031442
Gene Name mcf.2 transforming sequence-like
Synonyms Dbs, C130040G20Rik
MMRRC Submission 044954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6850 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 12923806-13070502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13059476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 629 (F629L)
Ref Sequence ENSEMBL: ENSMUSP00000133577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095456] [ENSMUST00000098927] [ENSMUST00000110866] [ENSMUST00000110867] [ENSMUST00000110871] [ENSMUST00000110873] [ENSMUST00000110876] [ENSMUST00000110879] [ENSMUST00000145067] [ENSMUST00000173006] [ENSMUST00000173099]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000095456
AA Change: F722L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: F722L

DomainStartEndE-ValueType
SEC14 75 221 1.77e-24 SMART
SPEC 354 455 4.41e-15 SMART
coiled coil region 507 529 N/A INTRINSIC
low complexity region 578 594 N/A INTRINSIC
RhoGEF 636 811 2.83e-63 SMART
PH 831 948 8.13e-14 SMART
low complexity region 966 978 N/A INTRINSIC
SH3 1058 1115 3.33e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098927
AA Change: F696L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: F696L

DomainStartEndE-ValueType
SEC14 49 195 1.77e-24 SMART
SPEC 328 429 4.41e-15 SMART
coiled coil region 481 503 N/A INTRINSIC
low complexity region 552 568 N/A INTRINSIC
RhoGEF 610 785 2.83e-63 SMART
PH 805 922 8.13e-14 SMART
low complexity region 940 952 N/A INTRINSIC
low complexity region 1022 1033 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110866
AA Change: F670L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: F670L

DomainStartEndE-ValueType
SEC14 23 169 1.77e-24 SMART
SPEC 302 403 4.41e-15 SMART
coiled coil region 455 477 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
RhoGEF 584 759 2.83e-63 SMART
PH 779 896 8.13e-14 SMART
low complexity region 914 926 N/A INTRINSIC
SH3 1006 1063 3.33e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110867
AA Change: F670L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: F670L

DomainStartEndE-ValueType
SEC14 23 169 1.77e-24 SMART
SPEC 302 403 4.41e-15 SMART
coiled coil region 455 477 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
RhoGEF 584 759 2.83e-63 SMART
PH 779 896 8.13e-14 SMART
low complexity region 914 926 N/A INTRINSIC
SH3 1006 1063 3.33e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110871
AA Change: F690L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: F690L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SEC14 43 189 1.77e-24 SMART
SPEC 322 423 4.41e-15 SMART
coiled coil region 475 497 N/A INTRINSIC
low complexity region 546 562 N/A INTRINSIC
RhoGEF 604 779 2.83e-63 SMART
PH 799 916 8.13e-14 SMART
low complexity region 934 946 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110873
AA Change: F533L

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: F533L

DomainStartEndE-ValueType
SPEC 165 266 4.41e-15 SMART
coiled coil region 318 340 N/A INTRINSIC
low complexity region 389 405 N/A INTRINSIC
RhoGEF 447 622 2.83e-63 SMART
PH 642 759 8.13e-14 SMART
low complexity region 777 789 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110876
AA Change: F692L

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: F692L

DomainStartEndE-ValueType
SEC14 45 191 1.77e-24 SMART
SPEC 324 425 4.41e-15 SMART
coiled coil region 477 499 N/A INTRINSIC
low complexity region 548 564 N/A INTRINSIC
RhoGEF 606 781 2.83e-63 SMART
PH 801 918 8.13e-14 SMART
low complexity region 936 948 N/A INTRINSIC
SH3 1084 1141 3.33e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110879
AA Change: F692L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: F692L

DomainStartEndE-ValueType
SEC14 45 191 1.77e-24 SMART
SPEC 324 425 4.41e-15 SMART
coiled coil region 477 499 N/A INTRINSIC
low complexity region 548 564 N/A INTRINSIC
RhoGEF 606 781 2.83e-63 SMART
PH 801 918 8.13e-14 SMART
low complexity region 936 948 N/A INTRINSIC
SH3 1028 1085 3.33e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123811
SMART Domains Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442

DomainStartEndE-ValueType
PH 1 88 6.67e-1 SMART
low complexity region 106 118 N/A INTRINSIC
SH3 198 255 3.33e-4 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: F354L

DomainStartEndE-ValueType
SPEC 5 88 8.25e-6 SMART
coiled coil region 139 161 N/A INTRINSIC
low complexity region 211 227 N/A INTRINSIC
RhoGEF 269 444 2.83e-63 SMART
PH 464 581 8.13e-14 SMART
low complexity region 599 611 N/A INTRINSIC
SH3 716 773 3.33e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134227
SMART Domains Protein: ENSMUSP00000116731
Gene: ENSMUSG00000031442

DomainStartEndE-ValueType
Pfam:PH 1 81 1.5e-7 PFAM
low complexity region 101 113 N/A INTRINSIC
low complexity region 236 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139776
SMART Domains Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442

DomainStartEndE-ValueType
SH3 99 156 3.33e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000145067
AA Change: F629L

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: F629L

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 16 132 2.4e-12 PFAM
SPEC 261 362 4.41e-15 SMART
coiled coil region 414 436 N/A INTRINSIC
low complexity region 485 501 N/A INTRINSIC
RhoGEF 543 718 2.83e-63 SMART
PH 738 855 8.13e-14 SMART
low complexity region 873 885 N/A INTRINSIC
SH3 1021 1078 3.33e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145892
SMART Domains Protein: ENSMUSP00000114758
Gene: ENSMUSG00000031442

DomainStartEndE-ValueType
Blast:PH 2 23 1e-6 BLAST
PDB:1KZG|C 2 40 1e-19 PDB
SCOP:d1kz7a2 2 40 6e-7 SMART
low complexity region 41 53 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173006
AA Change: F601L

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: F601L

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 1 104 1.3e-12 PFAM
SPEC 233 334 4.41e-15 SMART
coiled coil region 386 408 N/A INTRINSIC
low complexity region 457 473 N/A INTRINSIC
RhoGEF 515 690 2.83e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173099
AA Change: F688L

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: F688L

DomainStartEndE-ValueType
SEC14 41 187 1.77e-24 SMART
SPEC 320 421 4.41e-15 SMART
coiled coil region 473 495 N/A INTRINSIC
low complexity region 544 560 N/A INTRINSIC
RhoGEF 602 777 2.83e-63 SMART
PH 797 914 8.13e-14 SMART
low complexity region 932 944 N/A INTRINSIC
low complexity region 1014 1025 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,270,318 (GRCm39) M927V probably benign Het
Agr2 A G 12: 36,045,558 (GRCm39) I15V probably benign Het
Alpk1 A G 3: 127,523,012 (GRCm39) I10T possibly damaging Het
Art5 A G 7: 101,747,302 (GRCm39) V159A possibly damaging Het
Asz1 G A 6: 18,108,942 (GRCm39) R32W probably benign Het
Atp8b1 A C 18: 64,689,923 (GRCm39) M603R possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Car9 A G 4: 43,507,321 (GRCm39) E3G probably damaging Het
Cpne3 A T 4: 19,535,231 (GRCm39) I267N possibly damaging Het
Cyp2c65 T A 19: 39,057,535 (GRCm39) F57I probably benign Het
D430041D05Rik T C 2: 104,031,604 (GRCm39) K980R probably damaging Het
Dnhd1 G T 7: 105,369,137 (GRCm39) G4303W possibly damaging Het
Dnmt3a A G 12: 3,947,600 (GRCm39) N485D probably benign Het
Dusp4 A T 8: 35,283,651 (GRCm39) K166* probably null Het
Ect2 T C 3: 27,193,034 (GRCm39) D344G probably damaging Het
Eif2b1 T C 5: 124,717,069 (GRCm39) D3G probably benign Het
Ermp1 A G 19: 29,594,041 (GRCm39) Y710H probably damaging Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
H2-T10 A G 17: 36,430,152 (GRCm39) L263P probably damaging Het
Iqcn A T 8: 71,163,425 (GRCm39) N873Y probably damaging Het
Itga7 A T 10: 128,781,385 (GRCm39) I621F probably damaging Het
Kcna3 A T 3: 106,944,475 (GRCm39) D246V probably damaging Het
Kctd12 C T 14: 103,219,414 (GRCm39) G155S probably benign Het
Lrtm1 T C 14: 28,749,407 (GRCm39) V256A probably benign Het
Mphosph9 A G 5: 124,399,019 (GRCm39) F999L probably damaging Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Obscn C T 11: 58,892,955 (GRCm39) A6764T possibly damaging Het
Obscn C T 11: 58,958,950 (GRCm39) V3643M possibly damaging Het
Or4c102 T A 2: 88,422,650 (GRCm39) C167* probably null Het
Or8g18 T C 9: 39,149,271 (GRCm39) I150V probably benign Het
Pdhx T C 2: 102,871,445 (GRCm39) H195R probably damaging Het
Pdilt A T 7: 119,086,182 (GRCm39) V511E probably damaging Het
Prima1 C T 12: 103,163,594 (GRCm39) D126N probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prune2 C A 19: 17,099,552 (GRCm39) D1685E probably benign Het
Ptgs2 A T 1: 149,981,291 (GRCm39) I525F probably damaging Het
Rab11fip2 A T 19: 59,925,441 (GRCm39) F259I possibly damaging Het
Ranbp3l C A 15: 9,058,808 (GRCm39) D216E probably damaging Het
Scn5a A T 9: 119,330,815 (GRCm39) L1240Q possibly damaging Het
Sohlh2 A T 3: 55,099,707 (GRCm39) T160S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31h1 A C 10: 82,128,888 (GRCm39) M1374R possibly damaging Het
Tank A G 2: 61,480,346 (GRCm39) E294G probably benign Het
Tars1 T A 15: 11,392,885 (GRCm39) Y187F probably benign Het
Tas2r144 T A 6: 42,192,857 (GRCm39) M199K possibly damaging Het
Tdrd3 T C 14: 87,695,515 (GRCm39) probably benign Het
Tecta T A 9: 42,255,134 (GRCm39) D1683V probably benign Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tmie A G 9: 110,695,980 (GRCm39) I137T possibly damaging Het
Trim45 T A 3: 100,830,541 (GRCm39) L105* probably null Het
Trpv3 G A 11: 73,182,519 (GRCm39) G568S probably damaging Het
Wdr75 A G 1: 45,853,758 (GRCm39) T390A probably benign Het
Wdr97 A G 15: 76,241,996 (GRCm39) Y763C probably damaging Het
Zfp35 G A 18: 24,135,839 (GRCm39) R61H possibly damaging Het
Other mutations in Mcf2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Mcf2l APN 8 13,050,857 (GRCm39) missense probably damaging 0.98
IGL00426:Mcf2l APN 8 13,034,910 (GRCm39) missense probably damaging 1.00
IGL01391:Mcf2l APN 8 13,064,010 (GRCm39) splice site probably null
IGL01795:Mcf2l APN 8 13,050,749 (GRCm39) splice site probably null
IGL02314:Mcf2l APN 8 13,051,851 (GRCm39) missense probably damaging 0.99
IGL02716:Mcf2l APN 8 13,047,277 (GRCm39) missense probably benign 0.19
IGL02985:Mcf2l APN 8 13,013,239 (GRCm39) missense probably damaging 1.00
IGL03073:Mcf2l APN 8 13,050,004 (GRCm39) missense probably damaging 1.00
IGL03308:Mcf2l APN 8 13,059,512 (GRCm39) missense probably damaging 1.00
IGL03371:Mcf2l APN 8 13,051,298 (GRCm39) missense probably damaging 1.00
P0022:Mcf2l UTSW 8 13,068,897 (GRCm39) nonsense probably null
R0062:Mcf2l UTSW 8 13,056,766 (GRCm39) unclassified probably benign
R0067:Mcf2l UTSW 8 13,063,060 (GRCm39) missense probably benign 0.01
R0110:Mcf2l UTSW 8 13,047,337 (GRCm39) missense probably damaging 1.00
R0450:Mcf2l UTSW 8 13,047,337 (GRCm39) missense probably damaging 1.00
R0469:Mcf2l UTSW 8 13,047,337 (GRCm39) missense probably damaging 1.00
R0510:Mcf2l UTSW 8 13,047,337 (GRCm39) missense probably damaging 1.00
R0543:Mcf2l UTSW 8 13,046,728 (GRCm39) critical splice donor site probably null
R0591:Mcf2l UTSW 8 13,068,751 (GRCm39) missense probably benign 0.11
R0801:Mcf2l UTSW 8 13,064,020 (GRCm39) intron probably benign
R0962:Mcf2l UTSW 8 13,051,964 (GRCm39) missense probably benign 0.14
R1084:Mcf2l UTSW 8 13,052,645 (GRCm39) missense possibly damaging 0.94
R1794:Mcf2l UTSW 8 12,965,982 (GRCm39) missense probably benign 0.33
R2111:Mcf2l UTSW 8 13,051,867 (GRCm39) missense probably damaging 0.99
R2112:Mcf2l UTSW 8 13,051,867 (GRCm39) missense probably damaging 0.99
R3785:Mcf2l UTSW 8 12,930,099 (GRCm39) missense probably damaging 0.97
R4777:Mcf2l UTSW 8 13,068,051 (GRCm39) splice site probably null
R4858:Mcf2l UTSW 8 13,063,972 (GRCm39) missense probably damaging 1.00
R4980:Mcf2l UTSW 8 13,034,883 (GRCm39) missense probably damaging 1.00
R5021:Mcf2l UTSW 8 13,061,808 (GRCm39) missense probably damaging 1.00
R5067:Mcf2l UTSW 8 12,965,959 (GRCm39) intron probably benign
R5158:Mcf2l UTSW 8 13,059,715 (GRCm39) missense probably damaging 1.00
R5439:Mcf2l UTSW 8 12,976,646 (GRCm39) missense possibly damaging 0.85
R5569:Mcf2l UTSW 8 13,055,481 (GRCm39) missense probably damaging 1.00
R5655:Mcf2l UTSW 8 13,060,444 (GRCm39) missense probably damaging 0.98
R5668:Mcf2l UTSW 8 13,063,812 (GRCm39) nonsense probably null
R5753:Mcf2l UTSW 8 13,049,993 (GRCm39) missense probably damaging 1.00
R5808:Mcf2l UTSW 8 13,043,937 (GRCm39) start codon destroyed probably null 0.92
R5946:Mcf2l UTSW 8 13,063,922 (GRCm39) missense probably damaging 1.00
R6168:Mcf2l UTSW 8 13,051,823 (GRCm39) missense probably benign 0.05
R6174:Mcf2l UTSW 8 13,063,849 (GRCm39) nonsense probably null
R6212:Mcf2l UTSW 8 13,067,431 (GRCm39) missense probably damaging 1.00
R6270:Mcf2l UTSW 8 13,068,701 (GRCm39) missense probably damaging 0.99
R6383:Mcf2l UTSW 8 12,929,912 (GRCm39) start gained probably benign
R6908:Mcf2l UTSW 8 13,068,919 (GRCm39) missense probably benign
R7101:Mcf2l UTSW 8 13,063,579 (GRCm39) missense possibly damaging 0.80
R7163:Mcf2l UTSW 8 12,965,439 (GRCm39) missense probably benign 0.00
R7203:Mcf2l UTSW 8 13,060,456 (GRCm39) missense probably benign 0.09
R7414:Mcf2l UTSW 8 13,069,022 (GRCm39) makesense probably null
R7553:Mcf2l UTSW 8 13,047,268 (GRCm39) missense probably benign
R7556:Mcf2l UTSW 8 13,023,071 (GRCm39) missense probably damaging 0.99
R7688:Mcf2l UTSW 8 12,998,130 (GRCm39) missense possibly damaging 0.74
R7776:Mcf2l UTSW 8 12,930,127 (GRCm39) missense probably benign
R7947:Mcf2l UTSW 8 13,053,529 (GRCm39) splice site probably null
R8077:Mcf2l UTSW 8 13,048,494 (GRCm39) critical splice donor site probably null
R8083:Mcf2l UTSW 8 13,057,875 (GRCm39) splice site probably null
R8133:Mcf2l UTSW 8 13,061,487 (GRCm39) missense probably damaging 1.00
R8189:Mcf2l UTSW 8 13,013,164 (GRCm39) missense probably damaging 0.98
R8453:Mcf2l UTSW 8 13,034,956 (GRCm39) splice site probably null
R8520:Mcf2l UTSW 8 12,930,089 (GRCm39) missense probably benign
R8865:Mcf2l UTSW 8 12,930,003 (GRCm39) missense probably benign 0.00
R8895:Mcf2l UTSW 8 13,034,330 (GRCm39) intron probably benign
R9081:Mcf2l UTSW 8 13,068,697 (GRCm39) missense probably damaging 0.96
R9143:Mcf2l UTSW 8 13,062,883 (GRCm39) splice site probably benign
R9219:Mcf2l UTSW 8 13,061,383 (GRCm39) missense probably damaging 0.98
R9229:Mcf2l UTSW 8 13,063,584 (GRCm39) missense probably benign 0.01
R9335:Mcf2l UTSW 8 13,050,812 (GRCm39) missense possibly damaging 0.92
R9351:Mcf2l UTSW 8 13,050,757 (GRCm39) missense possibly damaging 0.82
R9406:Mcf2l UTSW 8 13,059,676 (GRCm39) missense probably damaging 1.00
R9442:Mcf2l UTSW 8 13,023,048 (GRCm39) missense possibly damaging 0.91
R9618:Mcf2l UTSW 8 13,034,320 (GRCm39) intron probably benign
X0052:Mcf2l UTSW 8 13,068,713 (GRCm39) missense possibly damaging 0.89
Z1177:Mcf2l UTSW 8 13,059,654 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTACTGCCAACCACCTCTG -3'
(R):5'- GGTCCAGCTTCTTCTGACAC -3'

Sequencing Primer
(F):5'- TCCACCTTCTGGGCTGTGAG -3'
(R):5'- TTCTGACACTCCTGCAACCAC -3'
Posted On 2018-09-12