Incidental Mutation 'R0591:Mcf2l'
ID 55980
Institutional Source Beutler Lab
Gene Symbol Mcf2l
Ensembl Gene ENSMUSG00000031442
Gene Name mcf.2 transforming sequence-like
Synonyms Dbs, C130040G20Rik
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12923806-13070502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 13068751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1075 (S1075A)
Ref Sequence ENSEMBL: ENSMUSP00000133577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095456] [ENSMUST00000098927] [ENSMUST00000110866] [ENSMUST00000110867] [ENSMUST00000110871] [ENSMUST00000110873] [ENSMUST00000110876] [ENSMUST00000145067] [ENSMUST00000110879] [ENSMUST00000173099]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000095456
AA Change: S1112A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: S1112A

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
AA Change: S1060A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: S1060A

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: S1060A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: S1060A

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
AA Change: S1138A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: S1138A

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
AA Change: S1075A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: S1075A

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: ENSMUST00000110879
AA Change: S1082A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: S1082A

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 unknown
Transcript: ENSMUST00000126905
AA Change: S769A
SMART Domains Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: S769A

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 unknown
Transcript: ENSMUST00000123811
AA Change: S251A
SMART Domains Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442
AA Change: S251A

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 unknown
Transcript: ENSMUST00000139776
AA Change: S152A
SMART Domains Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442
AA Change: S152A

DomainStartEndE-ValueType
SH3 99 156 3.33e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134989
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 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: 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 0.0764 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably 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
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
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'- TGTGATTCCCACCTCAGACATGACC -3'
(R):5'- TTTGCTCTGCACACCTAGAAACCC -3'

Sequencing Primer
(F):5'- AGACATGATCTGTGCGTTCC -3'
(R):5'- GAAACCCCTCTGCTTTTAAACGG -3'
Posted On 2013-07-11