Incidental Mutation 'R1522:Rgl1'
ID 167486
Institutional Source Beutler Lab
Gene Symbol Rgl1
Ensembl Gene ENSMUSG00000026482
Gene Name ral guanine nucleotide dissociation stimulator,-like 1
Synonyms Rgl
MMRRC Submission 040871-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R1522 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 152392513-152642089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152462284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 109 (L109Q)
Ref Sequence ENSEMBL: ENSMUSP00000107490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027760] [ENSMUST00000111857] [ENSMUST00000111859] [ENSMUST00000149536]
AlphaFold Q60695
Predicted Effect probably damaging
Transcript: ENSMUST00000027760
AA Change: L74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: L74Q

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: L72Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: L72Q

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: L109Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: L109Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128251
Predicted Effect probably benign
Transcript: ENSMUST00000149536
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,139,568 (GRCm39) S498P probably damaging Het
3100002H09Rik A G 4: 124,504,487 (GRCm39) W22R probably damaging Het
AA986860 A G 1: 130,670,831 (GRCm39) E351G probably damaging Het
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Actmap A G 7: 26,902,105 (GRCm39) H244R probably damaging Het
Adamts10 A G 17: 33,756,293 (GRCm39) D312G probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ankfy1 C T 11: 72,646,693 (GRCm39) R859* probably null Het
Atp8b1 T A 18: 64,683,503 (GRCm39) I742L probably benign Het
B3galnt2 T A 13: 14,145,354 (GRCm39) V89E probably damaging Het
Brinp3 A C 1: 146,777,628 (GRCm39) T692P probably damaging Het
C9 T A 15: 6,516,243 (GRCm39) F349I probably damaging Het
Cacna1a T A 8: 85,360,062 (GRCm39) M1976K probably benign Het
Castor2 T G 5: 134,154,726 (GRCm39) S43R probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Cfap45 A G 1: 172,368,139 (GRCm39) E377G probably damaging Het
Clca3a1 T A 3: 144,460,932 (GRCm39) M240L probably benign Het
Clnk G A 5: 38,952,309 (GRCm39) T10M probably damaging Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Col11a2 G A 17: 34,274,228 (GRCm39) G375S probably damaging Het
Col6a5 T A 9: 105,817,193 (GRCm39) I373F unknown Het
Dmxl1 C T 18: 49,985,434 (GRCm39) A227V probably benign Het
Dok5 A G 2: 170,574,052 (GRCm39) N4D probably benign Het
Dpysl3 A T 18: 43,496,622 (GRCm39) V138D probably damaging Het
Efs A T 14: 55,157,172 (GRCm39) Y380N probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Farp2 A G 1: 93,546,275 (GRCm39) Q855R possibly damaging Het
Fcrl2 A C 3: 87,164,014 (GRCm39) S372A possibly damaging Het
Gadl1 C T 9: 115,773,297 (GRCm39) A113V probably damaging Het
Gda T A 19: 21,389,903 (GRCm39) E219D probably benign Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Gm4847 A T 1: 166,469,219 (GRCm39) S148R probably damaging Het
Golga2 T C 2: 32,192,216 (GRCm39) V325A probably benign Het
Hpf1 A G 8: 61,349,783 (GRCm39) D137G probably damaging Het
Htr2a C G 14: 74,943,293 (GRCm39) S291* probably null Het
Itga5 G A 15: 103,265,209 (GRCm39) Q233* probably null Het
Jazf1 C A 6: 52,789,168 (GRCm39) R102L probably damaging Het
Kif6 T G 17: 50,021,141 (GRCm39) L322R probably damaging Het
Ktn1 A C 14: 47,904,873 (GRCm39) K217T probably damaging Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Mmel1 A G 4: 154,979,443 (GRCm39) E717G probably damaging Het
Mndal G T 1: 173,699,032 (GRCm39) P155H possibly damaging Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nlgn1 A T 3: 25,490,073 (GRCm39) N551K probably damaging Het
Nup210 G A 6: 91,046,148 (GRCm39) P595L possibly damaging Het
Or2ag15 A G 7: 106,340,212 (GRCm39) C310R probably benign Het
Or2g25 A T 17: 37,970,661 (GRCm39) C188S probably damaging Het
Or4k52 A T 2: 111,610,693 (GRCm39) probably null Het
Or5ac17 T G 16: 59,036,347 (GRCm39) T210P probably damaging Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Pank3 G A 11: 35,672,508 (GRCm39) V304M probably benign Het
Phf3 G A 1: 30,844,729 (GRCm39) T1410I probably benign Het
Ppm1k A G 6: 57,502,142 (GRCm39) I7T possibly damaging Het
Ppp1r12c T C 7: 4,500,424 (GRCm39) D73G probably damaging Het
Prelid2 T G 18: 42,014,332 (GRCm39) M165L probably benign Het
Prkd3 A C 17: 79,260,125 (GRCm39) L826R probably damaging Het
Ptchd4 A T 17: 42,814,433 (GRCm39) N778I probably damaging Het
Ptprm T C 17: 67,000,866 (GRCm39) D1063G possibly damaging Het
Rab27a C A 9: 72,982,764 (GRCm39) T23N probably damaging Het
Rasgrf2 A T 13: 92,044,205 (GRCm39) F949L probably benign Het
Rbm33 A G 5: 28,542,002 (GRCm39) N68D probably damaging Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sbno1 G A 5: 124,530,675 (GRCm39) L875F probably damaging Het
Scube1 T A 15: 83,512,277 (GRCm39) probably null Het
Selenbp1 G A 3: 94,844,669 (GRCm39) V109M probably damaging Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Shisa8 C T 15: 82,092,702 (GRCm39) G63D probably damaging Het
Snx14 T C 9: 88,284,277 (GRCm39) R464G possibly damaging Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Syne2 A G 12: 76,150,557 (GRCm39) E6528G probably damaging Het
Syt5 T C 7: 4,543,245 (GRCm39) E338G probably damaging Het
Tbk1 T C 10: 121,387,223 (GRCm39) K691E probably benign Het
Tenm3 G A 8: 48,848,611 (GRCm39) T11I probably damaging Het
Thrb A G 14: 18,002,597 (GRCm38) H87R probably damaging Het
Tlr4 T A 4: 66,757,933 (GRCm39) M242K possibly damaging Het
Tm4sf19 T C 16: 32,224,820 (GRCm39) M56T possibly damaging Het
Tmem212 T A 3: 27,940,620 (GRCm39) R66* probably null Het
Tmem39b G T 4: 129,578,275 (GRCm39) D315E probably benign Het
Tnxb T C 17: 34,937,612 (GRCm39) F3834L probably damaging Het
Trim36 A T 18: 46,319,250 (GRCm39) L225* probably null Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Trio G T 15: 27,732,726 (GRCm39) Q3052K probably benign Het
Trpm3 T C 19: 22,955,698 (GRCm39) I1091T probably benign Het
Tst T C 15: 78,284,143 (GRCm39) E228G possibly damaging Het
Ttn T C 2: 76,702,060 (GRCm39) probably benign Het
Uap1 A C 1: 169,978,510 (GRCm39) probably null Het
Ush2a T C 1: 188,530,011 (GRCm39) S3267P possibly damaging Het
Usp5 T C 6: 124,802,129 (GRCm39) T38A probably benign Het
Uvssa A T 5: 33,545,152 (GRCm39) Q84L probably damaging Het
Vmn1r159 T G 7: 22,542,693 (GRCm39) H113P probably damaging Het
Vps13d A T 4: 144,824,742 (GRCm39) probably null Het
Zfp182 T A X: 20,897,799 (GRCm39) I166L probably benign Het
Zfp811 A T 17: 33,016,622 (GRCm39) Y472N 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
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
R2291:Rgl1 UTSW 1 152,412,032 (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'- TGCCCTTGATTCAGAGCCACAC -3'
(R):5'- GAAAGAATGGGACGCTACCTCCAC -3'

Sequencing Primer
(F):5'- TTGATTCAGAGCCACACCCTTAG -3'
(R):5'- ACTGCCTTCCAGGACTTTCAG -3'
Posted On 2014-04-13