Incidental Mutation 'IGL03088:Rapgefl1'
ID418244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgefl1
Ensembl Gene ENSMUSG00000038020
Gene NameRap guanine nucleotide exchange factor (GEF)-like 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.443) question?
Stock #IGL03088
Quality Score
Status
Chromosome11
Chromosomal Location98836785-98853697 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 98849232 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 484 (L484M)
Ref Sequence ENSEMBL: ENSMUSP00000103103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107479]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000037640
Predicted Effect probably damaging
Transcript: ENSMUST00000107479
AA Change: L484M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103103
Gene: ENSMUSG00000038020
AA Change: L484M

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,293,384 L299R unknown Het
5330417C22Rik A G 3: 108,536,358 W31R probably damaging Het
8030411F24Rik A T 2: 148,783,407 H87L possibly damaging Het
Abca9 T G 11: 110,144,261 R693S probably benign Het
Adamts20 A T 15: 94,329,914 probably null Het
Afg1l T A 10: 42,426,497 D169V probably damaging Het
Agbl1 T A 7: 76,720,142 M663K probably benign Het
Angpt2 T A 8: 18,741,023 I86F probably benign Het
Ankrd2 G A 19: 42,041,985 E160K probably null Het
As3mt G T 19: 46,707,794 V14F probably damaging Het
Atp6v0a2 T C 5: 124,714,107 probably benign Het
Atp6v0d1 T A 8: 105,530,959 I113F probably damaging Het
Bank1 A G 3: 136,093,362 I406T probably damaging Het
BC053393 C A 11: 46,584,417 F146L probably benign Het
Bicdl1 A G 5: 115,663,822 V59A possibly damaging Het
Brsk1 A G 7: 4,710,454 probably benign Het
Cdh17 T A 4: 11,810,473 N721K probably damaging Het
Cercam A G 2: 29,881,687 probably benign Het
Clpb T A 7: 101,785,449 L484* probably null Het
Creb3l1 T A 2: 91,995,394 M127L probably benign Het
Ctla2b A C 13: 60,896,060 D122E probably damaging Het
Cyb5rl C A 4: 107,081,028 Y12* probably null Het
Dennd5a T C 7: 109,908,381 Y800C probably damaging Het
Dmrt3 T G 19: 25,623,047 S419A probably benign Het
Fbxo38 A G 18: 62,522,472 V381A possibly damaging Het
Flg2 A T 3: 93,203,191 H842L unknown Het
Fn1 A T 1: 71,614,038 probably null Het
Fos A C 12: 85,475,856 T181P possibly damaging Het
Fzd10 A G 5: 128,602,605 Y463C possibly damaging Het
Gprc5b T C 7: 118,983,633 M338V probably benign Het
Gsta4 T C 9: 78,206,063 probably benign Het
Gstm2 T A 3: 107,986,046 T34S probably benign Het
Haspin C T 11: 73,136,625 R546Q probably damaging Het
Itgad G A 7: 128,203,032 R958H probably benign Het
Kansl1l A T 1: 66,735,725 H647Q probably damaging Het
Kif5c A C 2: 49,744,443 R762S probably benign Het
Klf4 C A 4: 55,530,758 A68S possibly damaging Het
Klf4 A G 4: 55,530,811 L50P probably damaging Het
Kmt2c T C 5: 25,299,804 E3502G probably damaging Het
Krt8 A G 15: 102,000,587 I202T possibly damaging Het
Lmcd1 A T 6: 112,310,688 T112S probably damaging Het
Lpxn T C 19: 12,833,211 C340R probably damaging Het
Man2a2 C T 7: 80,359,334 V844M possibly damaging Het
Map10 G A 8: 125,671,070 E401K probably benign Het
Mark4 A T 7: 19,451,584 L75Q probably damaging Het
Mlf2 T G 6: 124,933,982 M81R probably damaging Het
Mup3 A G 4: 62,086,842 I67T probably damaging Het
Mycbpap T C 11: 94,513,943 probably null Het
Myt1l T C 12: 29,920,477 V1185A probably benign Het
Ncoa7 C T 10: 30,698,125 probably null Het
Nos1 C A 5: 117,867,258 N14K probably damaging Het
Nova2 G T 7: 18,950,569 V116F unknown Het
Obox3 G A 7: 15,627,002 probably benign Het
Olfr110 A G 17: 37,498,648 probably benign Het
Olfr239 A T 17: 33,199,560 T171S probably benign Het
Olfr325 T A 11: 58,581,827 probably benign Het
Olfr914 A T 9: 38,607,301 S279C probably damaging Het
P2rx5 T A 11: 73,165,620 probably benign Het
Parvb T A 15: 84,308,843 probably benign Het
Popdc2 A T 16: 38,373,822 T202S probably damaging Het
Ppm1j T A 3: 104,785,409 Y411* probably null Het
Sept14 A G 5: 129,697,733 probably benign Het
Slf1 A G 13: 77,084,435 C517R probably damaging Het
Smyd3 A G 1: 179,094,333 probably null Het
Snx9 A G 17: 5,924,610 T458A probably benign Het
Srgap1 T C 10: 121,825,693 D514G possibly damaging Het
Tbc1d14 A G 5: 36,524,964 S311P probably damaging Het
Tmem150c T G 5: 100,086,217 K91N probably damaging Het
Traf3 T A 12: 111,261,843 M471K probably damaging Het
Tubd1 G T 11: 86,552,999 G178C probably damaging Het
Vav2 T C 2: 27,267,250 K847E possibly damaging Het
Vmn2r100 A T 17: 19,522,039 H225L probably benign Het
Wrn A T 8: 33,268,823 probably benign Het
Xpo7 T G 14: 70,681,262 S710R probably benign Het
Zfp780b C T 7: 27,962,992 V713I possibly damaging Het
Zkscan17 A T 11: 59,487,766 I197N probably damaging Het
Other mutations in Rapgefl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Rapgefl1 APN 11 98847135 missense probably damaging 1.00
IGL03048:Rapgefl1 UTSW 11 98837164 missense possibly damaging 0.96
R1807:Rapgefl1 UTSW 11 98845989 critical splice donor site probably null
R1862:Rapgefl1 UTSW 11 98842209 missense probably benign
R4078:Rapgefl1 UTSW 11 98849977 missense probably benign 0.34
R4079:Rapgefl1 UTSW 11 98849977 missense probably benign 0.34
R4869:Rapgefl1 UTSW 11 98851109 missense probably damaging 1.00
R5994:Rapgefl1 UTSW 11 98850160 missense probably benign 0.06
R6275:Rapgefl1 UTSW 11 98851120 missense probably damaging 1.00
R6930:Rapgefl1 UTSW 11 98847121 missense probably damaging 1.00
Z1088:Rapgefl1 UTSW 11 98845895 missense probably damaging 0.99
Posted On2016-08-02