Incidental Mutation 'R5994:Rapgefl1'
ID 481018
Institutional Source Beutler Lab
Gene Symbol Rapgefl1
Ensembl Gene ENSMUSG00000038020
Gene Name Rap guanine nucleotide exchange factor (GEF)-like 1
Synonyms
MMRRC Submission 044173-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5994 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98727611-98744519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98740986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 575 (F575L)
Ref Sequence ENSEMBL: ENSMUSP00000103103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107479]
AlphaFold Q68EF8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000037640
Predicted Effect probably benign
Transcript: ENSMUST00000107479
AA Change: F575L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103103
Gene: ENSMUSG00000038020
AA Change: F575L

DomainStartEndE-ValueType
low complexity region 22 49 N/A INTRINSIC
low complexity region 50 65 N/A INTRINSIC
low complexity region 70 100 N/A INTRINSIC
low complexity region 108 133 N/A INTRINSIC
low complexity region 169 180 N/A INTRINSIC
RasGEF 420 661 2.39e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139889
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,647,862 (GRCm39) H1118L probably benign Het
Abca8b A G 11: 109,840,592 (GRCm39) probably null Het
Abcb5 A T 12: 118,928,995 (GRCm39) probably null Het
Adcy6 A T 15: 98,491,545 (GRCm39) I1016N probably damaging Het
Afg3l2 A T 18: 67,562,140 (GRCm39) C312S probably damaging Het
Ano8 C T 8: 71,937,478 (GRCm39) V89M probably damaging Het
Arhgap21 C T 2: 20,886,187 (GRCm39) G330D possibly damaging Het
Caskin1 T C 17: 24,715,935 (GRCm39) L195P probably damaging Het
Cfap54 A G 10: 92,874,943 (GRCm39) I514T probably damaging Het
Ctdsp2 G A 10: 126,831,689 (GRCm39) probably benign Het
Cyp4x1 T C 4: 114,979,142 (GRCm39) I152V probably benign Het
Dglucy G A 12: 100,808,959 (GRCm39) R219Q probably benign Het
Disp3 G T 4: 148,338,741 (GRCm39) A810E possibly damaging Het
Dtx4 T C 19: 12,478,517 (GRCm39) Y22C probably damaging Het
Edaradd A T 13: 12,493,377 (GRCm39) I105N probably damaging Het
Eepd1 C T 9: 25,514,749 (GRCm39) P519S probably damaging Het
Fscn3 A T 6: 28,430,294 (GRCm39) S155C probably benign Het
Gm10134 A T 2: 28,396,258 (GRCm39) E51V probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga7 T C 8: 23,740,281 (GRCm39) E83G probably benign Het
Gpr12 T C 5: 146,520,241 (GRCm39) H227R probably damaging Het
Hoxa2 T G 6: 52,141,372 (GRCm39) S85R possibly damaging Het
Hrnr T C 3: 93,239,607 (GRCm39) S3282P unknown Het
Ift74 C A 4: 94,579,961 (GRCm39) T543K possibly damaging Het
Klf10 C A 15: 38,296,285 (GRCm39) R420L probably damaging Het
Krt77 T A 15: 101,771,290 (GRCm39) I338F probably damaging Het
Limch1 A T 5: 67,131,965 (GRCm39) S152C probably damaging Het
Mgat4e T A 1: 134,469,234 (GRCm39) H270L probably benign Het
Myrf A T 19: 10,196,481 (GRCm39) L504Q probably null Het
Nckipsd A G 9: 108,691,176 (GRCm39) Q366R probably benign Het
Npy5r A T 8: 67,134,751 (GRCm39) V14D probably benign Het
Nrap T A 19: 56,340,031 (GRCm39) R830* probably null Het
Ogfrl1 A T 1: 23,418,070 (GRCm39) Y103N probably damaging Het
Or10g7 A T 9: 39,905,519 (GRCm39) R138* probably null Het
P2rx4 T A 5: 122,863,142 (GRCm39) L232H probably damaging Het
Pabpc2 A T 18: 39,906,947 (GRCm39) T71S probably benign Het
Paip2b C A 6: 83,785,867 (GRCm39) S121I probably damaging Het
Pofut1 C T 2: 153,103,149 (GRCm39) T261I possibly damaging Het
Ppp6c G T 2: 39,101,004 (GRCm39) T46K possibly damaging Het
Prkd2 C A 7: 16,584,261 (GRCm39) H371Q probably benign Het
Prrc2c A T 1: 162,501,725 (GRCm39) probably null Het
Psd3 C T 8: 68,172,620 (GRCm39) A894T probably damaging Het
Pygm A T 19: 6,448,073 (GRCm39) probably null Het
Pzp A T 6: 128,468,560 (GRCm39) M989K probably damaging Het
Ralgapa2 A T 2: 146,203,373 (GRCm39) S1159T probably benign Het
Rassf6 A G 5: 90,765,627 (GRCm39) L28S probably damaging Het
Rbp3 G T 14: 33,676,857 (GRCm39) K268N probably damaging Het
Rela C T 19: 5,697,092 (GRCm39) T433M possibly damaging Het
Rnf103 T A 6: 71,473,894 (GRCm39) S102R probably damaging Het
Scarf2 A G 16: 17,624,243 (GRCm39) N516S probably damaging Het
Sdcbp2 T C 2: 151,429,403 (GRCm39) I241T probably damaging Het
Septin7 T C 9: 25,199,494 (GRCm39) I131T possibly damaging Het
Sh3pxd2b T C 11: 32,357,570 (GRCm39) F191L probably damaging Het
Siglec15 C A 18: 78,090,590 (GRCm39) C236F probably damaging Het
Slc11a2 T C 15: 100,295,562 (GRCm39) T520A probably benign Het
Slc26a11 C A 11: 119,270,738 (GRCm39) F553L probably benign Het
Smchd1 G A 17: 71,672,404 (GRCm39) P1596S possibly damaging Het
Taar7b A G 10: 23,876,246 (GRCm39) H137R probably damaging Het
Thap12 T A 7: 98,365,237 (GRCm39) C468* probably null Het
Timp4 C T 6: 115,224,315 (GRCm39) G118D probably damaging Het
Tnnt3 A G 7: 142,065,003 (GRCm39) K48E probably damaging Het
Trmt10a T A 3: 137,862,475 (GRCm39) I255N probably damaging Het
Ttll10 T C 4: 156,133,189 (GRCm39) probably null Het
Tut7 T G 13: 59,937,023 (GRCm39) Y806S probably damaging Het
Ube4b A G 4: 149,457,389 (GRCm39) Y283H probably damaging Het
Ucp1 G T 8: 84,020,567 (GRCm39) V126L possibly damaging Het
Unc13b T A 4: 43,172,596 (GRCm39) probably benign Het
Vps13b T C 15: 35,875,918 (GRCm39) S2768P probably damaging Het
Zfp101 T A 17: 33,599,936 (GRCm39) M607L probably benign Het
Zfp292 C T 4: 34,805,464 (GRCm39) V2527M possibly damaging Het
Zfp503 T A 14: 22,035,630 (GRCm39) T429S possibly damaging Het
Other mutations in Rapgefl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Rapgefl1 APN 11 98,737,961 (GRCm39) missense probably damaging 1.00
IGL03088:Rapgefl1 APN 11 98,740,058 (GRCm39) missense probably damaging 1.00
IGL03048:Rapgefl1 UTSW 11 98,727,990 (GRCm39) missense possibly damaging 0.96
R1807:Rapgefl1 UTSW 11 98,736,815 (GRCm39) critical splice donor site probably null
R1862:Rapgefl1 UTSW 11 98,733,035 (GRCm39) missense probably benign
R4078:Rapgefl1 UTSW 11 98,740,803 (GRCm39) missense probably benign 0.34
R4079:Rapgefl1 UTSW 11 98,740,803 (GRCm39) missense probably benign 0.34
R4869:Rapgefl1 UTSW 11 98,741,935 (GRCm39) missense probably damaging 1.00
R6275:Rapgefl1 UTSW 11 98,741,946 (GRCm39) missense probably damaging 1.00
R6930:Rapgefl1 UTSW 11 98,737,947 (GRCm39) missense probably damaging 1.00
R7138:Rapgefl1 UTSW 11 98,737,900 (GRCm39) critical splice acceptor site probably null
R7432:Rapgefl1 UTSW 11 98,741,940 (GRCm39) missense probably damaging 1.00
R7516:Rapgefl1 UTSW 11 98,736,960 (GRCm39) missense probably benign 0.12
R7761:Rapgefl1 UTSW 11 98,728,485 (GRCm39) missense probably benign 0.05
R7775:Rapgefl1 UTSW 11 98,741,980 (GRCm39) missense probably damaging 1.00
R7824:Rapgefl1 UTSW 11 98,741,980 (GRCm39) missense probably damaging 1.00
R8018:Rapgefl1 UTSW 11 98,731,166 (GRCm39) critical splice donor site probably null
R8099:Rapgefl1 UTSW 11 98,738,209 (GRCm39) missense probably damaging 0.98
R8501:Rapgefl1 UTSW 11 98,733,053 (GRCm39) missense possibly damaging 0.94
R8941:Rapgefl1 UTSW 11 98,731,101 (GRCm39) missense probably damaging 1.00
Z1088:Rapgefl1 UTSW 11 98,736,721 (GRCm39) missense probably damaging 0.99
Z1176:Rapgefl1 UTSW 11 98,736,807 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACTGCGTTGTTTTCTCAGC -3'
(R):5'- CATCTACGAGGGTCTTGCTC -3'

Sequencing Primer
(F):5'- GTTGTTTTCTCAGCCCCCAGG -3'
(R):5'- CTCATGTAGGAAGGTCAGGTC -3'
Posted On 2017-06-26