Incidental Mutation 'R0962:Mcf2l'
ID 81270
Institutional Source Beutler Lab
Gene Symbol Mcf2l
Ensembl Gene ENSMUSG00000031442
Gene Name mcf.2 transforming sequence-like
Synonyms Dbs, C130040G20Rik
MMRRC Submission 039091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0962 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12923806-13070502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13051964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 425 (Y425H)
Ref Sequence ENSEMBL: ENSMUSP00000133577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095456] [ENSMUST00000098927] [ENSMUST00000110866] [ENSMUST00000110867] [ENSMUST00000110871] [ENSMUST00000110873] [ENSMUST00000110876] [ENSMUST00000173099] [ENSMUST00000145067] [ENSMUST00000173006] [ENSMUST00000110879]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000095456
AA Change: Y518H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: Y518H

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: Y492H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: Y492H

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: Y466H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: Y466H

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: Y466H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: Y466H

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: Y486H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: Y486H

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: Y329H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: Y329H

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: Y488H

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: Y488H

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: ENSMUST00000173099
AA Change: Y484H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: Y484H

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: Y425H

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: Y425H

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: Y397H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: Y397H

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: ENSMUST00000110879
AA Change: Y488H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: Y488H

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: Y150H
SMART Domains Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: Y150H

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 0.0647 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.9%
  • 20x: 96.0%
Validation Efficiency 100% (56/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,202,129 (GRCm39) A196T probably damaging Het
Adamtsl4 T A 3: 95,591,798 (GRCm39) R97* probably null Het
Adgrv1 T C 13: 81,553,465 (GRCm39) I5470V probably benign Het
Afg3l2 T C 18: 67,538,497 (GRCm39) T754A possibly damaging Het
Agfg1 T C 1: 82,864,117 (GRCm39) F395S probably damaging Het
Ahnak A G 19: 8,990,212 (GRCm39) probably benign Het
Alkbh2 T C 5: 114,262,014 (GRCm39) K239E possibly damaging Het
Ankmy1 A T 1: 92,827,290 (GRCm39) C87* probably null Het
Apob A G 12: 8,039,191 (GRCm39) I461V probably damaging Het
Arap1 C T 7: 101,034,121 (GRCm39) P188S possibly damaging Het
Atp12a G A 14: 56,605,870 (GRCm39) E64K probably damaging Het
Brca1 A T 11: 101,416,192 (GRCm39) H647Q possibly damaging Het
Cachd1 A G 4: 100,840,498 (GRCm39) probably benign Het
Cep57 A T 9: 13,720,039 (GRCm39) V429D possibly damaging Het
Cfap299 T C 5: 98,714,420 (GRCm39) probably benign Het
Dip2a T C 10: 76,128,266 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,353,696 (GRCm39) N757K probably damaging Het
Dock7 G A 4: 98,833,432 (GRCm39) T1953I possibly damaging Het
Ebf3 T C 7: 136,826,932 (GRCm39) T111A probably damaging Het
Ercc4 T C 16: 12,948,010 (GRCm39) I319T probably damaging Het
Fat1 T C 8: 45,486,363 (GRCm39) probably benign Het
Gucy2g C T 19: 55,198,716 (GRCm39) W809* probably null Het
Hhipl1 A G 12: 108,293,980 (GRCm39) K629E probably benign Het
Hmbox1 A T 14: 65,134,223 (GRCm39) S126T probably benign Het
Htr1a A G 13: 105,580,832 (GRCm39) N24S probably benign Het
Htra3 T A 5: 35,825,700 (GRCm39) I185F probably damaging Het
Impg1 C T 9: 80,289,023 (GRCm39) D345N probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm7a A G 6: 39,124,128 (GRCm39) V720A probably benign Het
Kirrel3 A G 9: 34,912,293 (GRCm39) D212G possibly damaging Het
Lgals3bp A T 11: 118,283,846 (GRCm39) *139K probably null Het
Lrp11 T A 10: 7,466,060 (GRCm39) V82D probably benign Het
Mfn2 T C 4: 147,966,658 (GRCm39) N511S probably benign Het
Mical2 T C 7: 111,979,624 (GRCm39) S108P probably damaging Het
Ms4a6c C T 19: 11,448,506 (GRCm39) T13M probably benign Het
Naip2 C A 13: 100,315,893 (GRCm39) V296F probably damaging Het
Or2d36 T A 7: 106,747,294 (GRCm39) F257Y possibly damaging Het
Or51a5 A G 7: 102,771,217 (GRCm39) V254A possibly damaging Het
Or7e175 T A 9: 20,048,834 (GRCm39) C141S probably damaging Het
P3h2 T C 16: 25,815,998 (GRCm39) M172V probably benign Het
Pcolce2 T G 9: 95,552,087 (GRCm39) N73K probably benign Het
Pla2g4d A G 2: 120,111,098 (GRCm39) probably null Het
Ppfia3 A G 7: 44,997,146 (GRCm39) probably benign Het
Ptprcap A G 19: 4,206,463 (GRCm39) D182G possibly damaging Het
Rabgap1 T C 2: 37,450,481 (GRCm39) probably benign Het
Rpain G A 11: 70,865,867 (GRCm39) probably null Het
Sdk1 C T 5: 142,147,630 (GRCm39) T1754I probably damaging Het
Stag1 T A 9: 100,678,880 (GRCm39) L267Q probably damaging Het
Tex9 T C 9: 72,391,374 (GRCm39) T92A probably benign Het
Trpa1 T A 1: 14,968,387 (GRCm39) I460F possibly damaging Het
Ttn A T 2: 76,780,500 (GRCm39) Y1084N probably damaging Het
Utp6 A G 11: 79,832,694 (GRCm39) probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E 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
R0801:Mcf2l UTSW 8 13,064,020 (GRCm39) intron probably benign
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'- TTTCCAGTCCATGAAGTGGAGCG -3'
(R):5'- ATGGCCCCAGAAGTGGAGTTACAG -3'

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