Incidental Mutation 'R0801:Mcf2l'
ID 76282
Institutional Source Beutler Lab
Gene Symbol Mcf2l
Ensembl Gene ENSMUSG00000031442
Gene Name mcf.2 transforming sequence-like
Synonyms Dbs, C130040G20Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0801 (G1)
Quality Score 212
Status Validated
Chromosome 8
Chromosomal Location 12923806-13070502 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 13064020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095456] [ENSMUST00000098927] [ENSMUST00000110866] [ENSMUST00000110867] [ENSMUST00000110871] [ENSMUST00000110873] [ENSMUST00000110876] [ENSMUST00000145067] [ENSMUST00000173099] [ENSMUST00000110879] [ENSMUST00000173006]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000095456
SMART Domains Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442

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
SMART Domains Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442

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
SMART Domains Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442

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
SMART Domains Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442

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: ENSMUST00000110871
SMART Domains Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442

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
SMART Domains Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442

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 probably benign
Transcript: ENSMUST00000110876
SMART Domains Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442

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 probably benign
Transcript: ENSMUST00000145067
SMART Domains Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442

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 noncoding transcript
Transcript: ENSMUST00000134989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127229
Predicted Effect probably benign
Transcript: ENSMUST00000139776
SMART Domains Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442

DomainStartEndE-ValueType
SH3 99 156 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 probably benign
Transcript: ENSMUST00000126905
SMART Domains Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442

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: ENSMUST00000173099
SMART Domains Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442

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
Predicted Effect probably benign
Transcript: ENSMUST00000110879
SMART Domains Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442

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: ENSMUST00000173006
SMART Domains Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442

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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign 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
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
R6850:Mcf2l UTSW 8 13,059,476 (GRCm39) missense possibly damaging 0.82
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'- CTCAGCACACTGGTCACATAGAAGG -3'
(R):5'- TCTCTCTGTATCCAAAAGGCACCCC -3'

Sequencing Primer
(F):5'- AAGGAGACCCCCTCATTTGTG -3'
(R):5'- CCCTAAAAGATAACGTCAGGCATTTG -3'
Posted On 2013-10-16