Incidental Mutation 'R6678:Rgl1'
| ID |
527333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgl1
|
| Ensembl Gene |
ENSMUSG00000026482 |
| Gene Name |
ral guanine nucleotide dissociation stimulator,-like 1 |
| Synonyms |
Rgl |
| MMRRC Submission |
044797-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.397)
|
| Stock # |
R6678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
152392513-152642089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152400475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 677
(Y677C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027760]
[ENSMUST00000111857]
[ENSMUST00000111859]
|
| AlphaFold |
Q60695 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027760
AA Change: Y642C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027760
Gene: ENSMUSG00000026482
AA Change: Y642C
| Domain | Start | End | E-Value | Type |
|---|
|
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: Y640C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482
AA Change: Y640C
| Domain | Start | End | E-Value | Type |
|---|
|
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: Y677C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482
AA Change: Y677C
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.4756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
| Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
| Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
| Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
| Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
| Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
| Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
| Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
| Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
| Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
| P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
| Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
| Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
probably benign |
Het |
|
| Other mutations in Rgl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- ACGCTGCTATTTTCCATGCTAG -3'
(R):5'- GTTTGGTCCAGGCTCCAATG -3'
Sequencing Primer
(F):5'- CCATGCTAGTCTTGTGTGCACG -3'
(R):5'- GTCCAGGCTCCAATGGCTTTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation