Incidental Mutation 'R1084:Mcf2l'
ID 84954
Institutional Source Beutler Lab
Gene Symbol Mcf2l
Ensembl Gene ENSMUSG00000031442
Gene Name mcf.2 transforming sequence-like
Synonyms Dbs, C130040G20Rik
MMRRC Submission 039170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1084 (G1)
Quality Score 115
Status Validated
Chromosome 8
Chromosomal Location 12923806-13070502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13052645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 503 (V503A)
Ref Sequence ENSEMBL: ENSMUSP00000106503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095456] [ENSMUST00000098927] [ENSMUST00000110866] [ENSMUST00000110867] [ENSMUST00000110871] [ENSMUST00000110873] [ENSMUST00000110876] [ENSMUST00000110879] [ENSMUST00000173099] [ENSMUST00000145067] [ENSMUST00000173006]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000095456
AA Change: V533A

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: V533A

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: V507A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: V507A

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 possibly damaging
Transcript: ENSMUST00000110866
AA Change: V481A

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: V481A

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: V481A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: V481A

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
AA Change: V501A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: V501A

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: V344A

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: V344A

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: V503A

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: V503A

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: V503A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: V503A

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: ENSMUST00000173099
AA Change: V499A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: V499A

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: ENSMUST00000145067
AA Change: V440A

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: V440A

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: ENSMUST00000173006
AA Change: V412A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: V412A

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 unknown
Transcript: ENSMUST00000126905
AA Change: V165A
SMART Domains Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: V165A

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
Meta Mutation Damage Score 0.0719 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,790,004 (GRCm39) probably benign Het
Abcg4 C T 9: 44,188,766 (GRCm39) V476M probably benign Het
Arhgap9 A G 10: 127,163,797 (GRCm39) S478G probably damaging Het
Blvra A G 2: 126,922,573 (GRCm39) T3A probably benign Het
Crygb C T 1: 65,119,654 (GRCm39) D109N possibly damaging Het
Cyp3a59 A T 5: 146,033,484 (GRCm39) T207S probably benign Het
Cyp4b1 A G 4: 115,497,509 (GRCm39) V163A probably benign Het
Dmxl2 A T 9: 54,323,717 (GRCm39) S1222R probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 G A 15: 28,343,598 (GRCm39) V2333I probably benign Het
Eral1 C T 11: 77,965,324 (GRCm39) V364M probably damaging Het
Fat4 T C 3: 39,033,974 (GRCm39) V2542A possibly damaging Het
Glcci1 C T 6: 8,573,221 (GRCm39) Q50* probably null Het
Heg1 A G 16: 33,527,367 (GRCm39) D109G probably benign Het
Lama1 C A 17: 68,111,464 (GRCm39) S2238R probably benign Het
Ltbp1 G A 17: 75,666,420 (GRCm39) W1053* probably null Het
Ly6f T C 15: 75,140,622 (GRCm39) L15P probably damaging Het
Mapk8 T A 14: 33,110,760 (GRCm39) K290* probably null Het
Mbd1 A G 18: 74,402,603 (GRCm39) Y35C probably damaging Het
Morc2a A G 11: 3,600,454 (GRCm39) probably benign Het
Ms4a8a T A 19: 11,053,726 (GRCm39) I127F probably damaging Het
Myo1d T C 11: 80,575,221 (GRCm39) Y165C probably damaging Het
Ocel1 G T 8: 71,824,632 (GRCm39) probably null Het
Plekhh2 C T 17: 84,878,554 (GRCm39) T603M probably damaging Het
Rab6b C T 9: 103,039,834 (GRCm39) T128M probably damaging Het
Scel G T 14: 103,802,279 (GRCm39) probably null Het
Sec23a A T 12: 59,031,921 (GRCm39) N436K probably damaging Het
Sec24a A G 11: 51,604,408 (GRCm39) L736P probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,906,388 (GRCm39) probably null Het
Tex15 A G 8: 34,067,032 (GRCm39) E2154G probably benign Het
Tnrc18 A G 5: 142,750,522 (GRCm39) probably null Het
Tpr A G 1: 150,317,912 (GRCm39) Q2140R probably benign Het
Zfp142 T C 1: 74,610,985 (GRCm39) R834G probably benign Het
Zfp276 G A 8: 123,981,462 (GRCm39) R3Q probably damaging Het
Zscan4d A T 7: 10,898,932 (GRCm39) L115Q 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
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
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'- TGTAACTCCACTTCTGGGGCCATAG -3'
(R):5'- CTTGGCTGCCTGAGAGAAAGGATG -3'

Sequencing Primer
(F):5'- TGAAGATCACGCAGGTCTC -3'
(R):5'- CCTGAGAGAAAGGATGTACCTG -3'
Posted On 2013-11-18