Incidental Mutation 'R2291:Rgl1'
ID 244318
Institutional Source Beutler Lab
Gene Symbol Rgl1
Ensembl Gene ENSMUSG00000026482
Gene Name ral guanine nucleotide dissociation stimulator,-like 1
Synonyms Rgl
MMRRC Submission 040290-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R2291 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 152392513-152642089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152412032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 446 (E446K)
Ref Sequence ENSEMBL: ENSMUSP00000027760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027760] [ENSMUST00000111857] [ENSMUST00000111859]
AlphaFold Q60695
PDB Structure SOLUTION STRUCTURE OF THE RAS-BINDING DOMAIN OF RGL [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000027760
AA Change: E446K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: E446K

DomainStartEndE-ValueType
RasGEFN 64 196 5.86e-39 SMART
RasGEF 228 502 9.56e-116 SMART
Blast:RasGEF 522 582 6e-8 BLAST
low complexity region 585 596 N/A INTRINSIC
low complexity region 627 637 N/A INTRINSIC
RA 648 735 1.7e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111857
AA Change: E444K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: E444K

DomainStartEndE-ValueType
RasGEFN 62 194 5.86e-39 SMART
RasGEF 226 500 9.56e-116 SMART
Blast:RasGEF 520 580 7e-8 BLAST
low complexity region 583 594 N/A INTRINSIC
low complexity region 625 635 N/A INTRINSIC
RA 646 733 1.7e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111859
AA Change: E481K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: E481K

DomainStartEndE-ValueType
RasGEFN 99 231 5.86e-39 SMART
RasGEF 263 537 9.56e-116 SMART
Blast:RasGEF 557 617 6e-8 BLAST
low complexity region 620 631 N/A INTRINSIC
low complexity region 662 672 N/A INTRINSIC
RA 683 770 1.7e-25 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Ras-like (Ral) -selective guanine nucleotide exchange factor (RalGEF) family of small GTPase activators which function both as downstream effectors of activated Ras GTPase and as regulators of certain Ral GTPases in the RalGEF - Ral GTPase signaling pathway. The encoded protein, like other RalGEFs, has an N-terminal ras exchanger motif domain, a catalytic CDC25 homology domain, and a C-terminal ras binding domain that stimulates guanine nucleotide exchange when bound to a Ral GTPase. RalGEF family members bridge the Ras and Ral signaling pathways and are thought to play a role in oncogenic transformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,207,450 (GRCm39) I247N probably damaging Het
Afdn A G 17: 14,109,153 (GRCm39) K1559E probably damaging Het
Ankhd1 C T 18: 36,777,386 (GRCm39) T1523I probably benign Het
Apc T A 18: 34,445,544 (GRCm39) N795K probably benign Het
Arhgap26 G T 18: 39,490,751 (GRCm39) probably benign Het
Atm C T 9: 53,402,209 (GRCm39) probably null Het
Atp1a4 T C 1: 172,072,473 (GRCm39) N394D probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Cacna1d G T 14: 29,764,299 (GRCm39) R2078S probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Camk2a T A 18: 61,097,031 (GRCm39) V38E probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccr7 G A 11: 99,036,161 (GRCm39) R254C probably damaging Het
Celf5 C T 10: 81,302,881 (GRCm39) G267D probably damaging Het
Cfap65 G A 1: 74,965,634 (GRCm39) P459S probably damaging Het
Chd1l T C 3: 97,498,599 (GRCm39) K267E probably damaging Het
Chl1 T A 6: 103,692,354 (GRCm39) Y331N probably damaging Het
Cltc G A 11: 86,624,448 (GRCm39) T158I probably benign Het
Col16a1 T A 4: 129,960,833 (GRCm39) D430E unknown Het
Cspg4 T C 9: 56,800,027 (GRCm39) V1597A probably damaging Het
Cstf2t T A 19: 31,062,264 (GRCm39) L600H probably benign Het
Cyp27b1 T C 10: 126,884,163 (GRCm39) V5A possibly damaging Het
Depdc5 C A 5: 33,136,746 (GRCm39) Q1339K probably damaging Het
Diaph3 G T 14: 87,203,882 (GRCm39) P592Q probably damaging Het
Dync2i1 A T 12: 116,193,191 (GRCm39) probably null Het
Epha8 T C 4: 136,660,658 (GRCm39) M687V probably damaging Het
Fhod1 T A 8: 106,063,596 (GRCm39) probably benign Het
Gls2 C A 10: 128,043,479 (GRCm39) S73* probably null Het
Gm3604 T A 13: 62,519,657 (GRCm39) M33L probably damaging Het
Gpr39 A G 1: 125,605,278 (GRCm39) T69A probably benign Het
Hal T C 10: 93,339,398 (GRCm39) F496L probably damaging Het
Hipk1 T C 3: 103,668,926 (GRCm39) E490G probably damaging Het
Ints7 T G 1: 191,338,315 (GRCm39) probably null Het
Itpr3 A G 17: 27,332,553 (GRCm39) E1799G possibly damaging Het
Kif11 T A 19: 37,395,451 (GRCm39) M570K probably benign Het
Kif18b G T 11: 102,799,096 (GRCm39) Q702K probably damaging Het
Kif19a A G 11: 114,681,019 (GRCm39) T247A probably damaging Het
Lama3 A G 18: 12,658,136 (GRCm39) E360G probably damaging Het
Loxl3 G T 6: 83,014,469 (GRCm39) A126S probably benign Het
Mc5r C T 18: 68,472,435 (GRCm39) R265W probably damaging Het
Mpl A G 4: 118,306,197 (GRCm39) V340A probably benign Het
Mrpl13 G T 15: 55,411,615 (GRCm39) H56Q probably damaging Het
Msr1 T C 8: 40,077,263 (GRCm39) T116A probably benign Het
N4bp3 T C 11: 51,536,930 (GRCm39) K48E probably damaging Het
Naaladl1 A G 19: 6,156,225 (GRCm39) T104A probably benign Het
Neu1 C T 17: 35,151,742 (GRCm39) R179W probably damaging Het
Or10d5 T C 9: 39,861,630 (GRCm39) T146A probably benign Het
Or8k21 A T 2: 86,145,524 (GRCm39) Y35* probably null Het
Osbp G T 19: 11,951,198 (GRCm39) E248* probably null Het
Otx1 T A 11: 21,946,634 (GRCm39) probably benign Het
Parp4 A T 14: 56,851,274 (GRCm39) Q759L probably damaging Het
Pax6 A C 2: 105,516,228 (GRCm39) S169R probably benign Het
Pigg T G 5: 108,480,783 (GRCm39) I389M probably damaging Het
Pla2g4a C A 1: 149,776,940 (GRCm39) V59F probably damaging Het
Plcb4 A T 2: 135,781,903 (GRCm39) Q241H probably benign Het
Plpp6 A G 19: 28,941,720 (GRCm39) D107G probably damaging Het
Ppp6r2 T A 15: 89,159,690 (GRCm39) L459Q probably damaging Het
Prss55 A T 14: 64,313,171 (GRCm39) W238R probably damaging Het
Ric3 C T 7: 108,638,090 (GRCm39) G221D probably damaging Het
Rnf167 T C 11: 70,540,129 (GRCm39) F83S probably damaging Het
Ryr1 C T 7: 28,798,202 (GRCm39) V947M probably damaging Het
Scn1a A G 2: 66,119,312 (GRCm39) L1397P probably benign Het
Sh3bp1 T A 15: 78,802,519 (GRCm39) V251E possibly damaging Het
Slc25a10 A T 11: 120,387,900 (GRCm39) I198L probably benign Het
Smoc2 A T 17: 14,589,233 (GRCm39) N234I possibly damaging Het
Spdl1 T A 11: 34,710,136 (GRCm39) K382* probably null Het
Ssrp1 G A 2: 84,872,660 (GRCm39) probably null Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Triqk T A 4: 12,974,817 (GRCm39) probably null Het
Ttc19 T C 11: 62,174,519 (GRCm39) Y128H probably damaging Het
Vmn1r15 T C 6: 57,235,677 (GRCm39) S182P possibly damaging Het
Vmn1r226 A G 17: 20,908,475 (GRCm39) I236V probably damaging Het
Vmn2r120 A C 17: 57,816,479 (GRCm39) N625K probably damaging Het
Vmn2r78 T C 7: 86,569,362 (GRCm39) I85T probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt7a C T 6: 91,371,468 (GRCm39) V165I probably benign Het
Zbtb40 A T 4: 136,712,328 (GRCm39) Y1127N possibly damaging Het
Zfyve1 A T 12: 83,594,705 (GRCm39) H762Q probably damaging Het
Other mutations in Rgl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Rgl1 APN 1 152,447,368 (GRCm39) missense probably benign 0.02
IGL01065:Rgl1 APN 1 152,394,893 (GRCm39) missense probably damaging 1.00
IGL01390:Rgl1 APN 1 152,447,339 (GRCm39) splice site probably benign
IGL01726:Rgl1 APN 1 152,394,904 (GRCm39) missense probably damaging 1.00
IGL01837:Rgl1 APN 1 152,424,901 (GRCm39) missense probably damaging 1.00
IGL02019:Rgl1 APN 1 152,404,220 (GRCm39) splice site probably benign
IGL02369:Rgl1 APN 1 152,409,357 (GRCm39) missense probably damaging 1.00
R0240:Rgl1 UTSW 1 152,430,175 (GRCm39) unclassified probably benign
R0255:Rgl1 UTSW 1 152,428,347 (GRCm39) missense probably damaging 1.00
R0562:Rgl1 UTSW 1 152,415,696 (GRCm39) missense probably damaging 1.00
R0648:Rgl1 UTSW 1 152,412,016 (GRCm39) critical splice donor site probably null
R0734:Rgl1 UTSW 1 152,430,051 (GRCm39) missense probably damaging 0.98
R1187:Rgl1 UTSW 1 152,420,184 (GRCm39) missense probably benign 0.14
R1522:Rgl1 UTSW 1 152,462,284 (GRCm39) missense probably damaging 1.00
R1595:Rgl1 UTSW 1 152,550,774 (GRCm39) splice site probably benign
R1634:Rgl1 UTSW 1 152,400,523 (GRCm39) missense probably damaging 1.00
R1661:Rgl1 UTSW 1 152,409,326 (GRCm39) missense probably damaging 0.99
R1665:Rgl1 UTSW 1 152,409,326 (GRCm39) missense probably damaging 0.99
R1964:Rgl1 UTSW 1 152,424,855 (GRCm39) missense probably damaging 1.00
R4272:Rgl1 UTSW 1 152,412,040 (GRCm39) missense probably benign 0.13
R4668:Rgl1 UTSW 1 152,397,122 (GRCm39) missense probably damaging 1.00
R4669:Rgl1 UTSW 1 152,397,122 (GRCm39) missense probably damaging 1.00
R4747:Rgl1 UTSW 1 152,400,450 (GRCm39) nonsense probably null
R4830:Rgl1 UTSW 1 152,430,081 (GRCm39) missense probably benign 0.11
R4853:Rgl1 UTSW 1 152,433,325 (GRCm39) missense probably benign 0.07
R4969:Rgl1 UTSW 1 152,424,813 (GRCm39) splice site probably null
R5778:Rgl1 UTSW 1 152,428,172 (GRCm39) missense probably benign 0.05
R5979:Rgl1 UTSW 1 152,433,244 (GRCm39) missense probably damaging 1.00
R6180:Rgl1 UTSW 1 152,394,923 (GRCm39) missense probably damaging 1.00
R6183:Rgl1 UTSW 1 152,462,321 (GRCm39) missense possibly damaging 0.94
R6322:Rgl1 UTSW 1 152,428,186 (GRCm39) missense probably damaging 0.98
R6678:Rgl1 UTSW 1 152,400,475 (GRCm39) missense probably damaging 1.00
R6759:Rgl1 UTSW 1 152,409,281 (GRCm39) missense probably damaging 0.99
R6892:Rgl1 UTSW 1 152,415,691 (GRCm39) missense probably benign 0.00
R7290:Rgl1 UTSW 1 152,420,146 (GRCm39) missense possibly damaging 0.78
R7363:Rgl1 UTSW 1 152,394,914 (GRCm39) missense probably damaging 1.00
R7610:Rgl1 UTSW 1 152,428,371 (GRCm39) missense probably damaging 1.00
R7774:Rgl1 UTSW 1 152,430,101 (GRCm39) missense probably benign
R8140:Rgl1 UTSW 1 152,433,252 (GRCm39) missense probably damaging 1.00
R9188:Rgl1 UTSW 1 152,394,922 (GRCm39) missense probably damaging 1.00
R9190:Rgl1 UTSW 1 152,428,362 (GRCm39) missense probably damaging 0.96
R9297:Rgl1 UTSW 1 152,400,454 (GRCm39) missense possibly damaging 0.89
R9318:Rgl1 UTSW 1 152,400,454 (GRCm39) missense possibly damaging 0.89
R9491:Rgl1 UTSW 1 152,424,869 (GRCm39) missense probably damaging 1.00
R9570:Rgl1 UTSW 1 152,430,082 (GRCm39) missense possibly damaging 0.47
R9610:Rgl1 UTSW 1 152,397,115 (GRCm39) missense probably benign 0.13
R9640:Rgl1 UTSW 1 152,397,142 (GRCm39) missense probably damaging 1.00
RF005:Rgl1 UTSW 1 152,397,114 (GRCm39) missense probably benign
Z1088:Rgl1 UTSW 1 152,550,771 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCTCACCTTTAACTGAAGATGTGG -3'
(R):5'- AAGGGTGGTTGCCTTGCTAC -3'

Sequencing Primer
(F):5'- TGTGGAGTAATGTGTAGGAACATACC -3'
(R):5'- CGTTGTCGCCACGTTTATAAAATC -3'
Posted On 2014-10-30