Incidental Mutation 'R6183:Rgl1'
ID 487607
Institutional Source Beutler Lab
Gene Symbol Rgl1
Ensembl Gene ENSMUSG00000026482
Gene Name ral guanine nucleotide dissociation stimulator,-like 1
Synonyms Rgl
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 152392513-152642089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152462321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 60 (E60K)
Ref Sequence ENSEMBL: ENSMUSP00000107488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027760] [ENSMUST00000111857] [ENSMUST00000111859] [ENSMUST00000149536]
AlphaFold Q60695
Predicted Effect possibly damaging
Transcript: ENSMUST00000027760
AA Change: E62K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: E62K

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 possibly damaging
Transcript: ENSMUST00000111857
AA Change: E60K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: E60K

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 benign
Transcript: ENSMUST00000111859
AA Change: E97K

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: E97K

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly 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
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
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'- ATTCAGAGCCACACCCTTAGG -3'
(R):5'- ACACTGAGTTCACAGAAGCC -3'

Sequencing Primer
(F):5'- GACATCCGCCCTTAGATCG -3'
(R):5'- TGAGTTCACAGAAGCCCACACTG -3'
Posted On 2017-10-10