Incidental Mutation 'R5819:Rgl3'
| ID |
501578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgl3
|
| Ensembl Gene |
ENSMUSG00000040146 |
| Gene Name |
ral guanine nucleotide dissociation stimulator-like 3 |
| Synonyms |
1300003D20Rik |
| MMRRC Submission |
043399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5819 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21882475-21900765 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 21892898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045726]
[ENSMUST00000045726]
[ENSMUST00000214026]
[ENSMUST00000215851]
|
| AlphaFold |
Q3UYI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045726
|
| SMART Domains |
Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
RasGEFN
|
63 |
201 |
1.35e-6 |
SMART |
|
RasGEF
|
244 |
504 |
2.74e-84 |
SMART |
|
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
|
RA
|
609 |
699 |
3.36e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045726
|
| SMART Domains |
Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
RasGEFN
|
63 |
201 |
1.35e-6 |
SMART |
|
RasGEF
|
244 |
504 |
2.74e-84 |
SMART |
|
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
|
RA
|
609 |
699 |
3.36e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213130
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215851
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,930,630 (GRCm39) |
I1376F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,488,129 (GRCm39) |
N673D |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,845,867 (GRCm39) |
F372S |
probably damaging |
Het |
| Bltp1 |
A |
T |
3: 37,102,749 (GRCm39) |
M4863L |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,989,948 (GRCm39) |
E258D |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,621,701 (GRCm39) |
H420L |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,528,899 (GRCm39) |
I260M |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,397,285 (GRCm39) |
V524I |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,965 (GRCm39) |
M102V |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,863,326 (GRCm39) |
I517N |
probably damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,190 (GRCm39) |
I305T |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,182,520 (GRCm39) |
D443V |
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,892 (GRCm39) |
I539N |
probably damaging |
Het |
| Gm17093 |
G |
T |
14: 44,758,986 (GRCm39) |
M169I |
unknown |
Het |
| Htra1 |
T |
C |
7: 130,583,469 (GRCm39) |
F363S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,876 (GRCm39) |
K275N |
probably benign |
Het |
| Klhdc8b |
G |
A |
9: 108,328,261 (GRCm39) |
P64S |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,614,130 (GRCm39) |
|
probably null |
Het |
| Mettl21c |
T |
G |
1: 44,048,882 (GRCm39) |
K222Q |
probably damaging |
Het |
| Mga |
A |
C |
2: 119,771,744 (GRCm39) |
M1535L |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,708,828 (GRCm39) |
G395D |
probably damaging |
Het |
| Ms4a10 |
C |
A |
19: 10,946,054 (GRCm39) |
A26S |
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,073,269 (GRCm39) |
M854L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,684 (GRCm39) |
N372D |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,304 (GRCm39) |
I278N |
probably damaging |
Het |
| Osmr |
C |
A |
15: 6,845,268 (GRCm39) |
V833L |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,997,251 (GRCm39) |
|
probably null |
Het |
| Pjvk |
A |
G |
2: 76,488,713 (GRCm39) |
I295V |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,119,513 (GRCm39) |
I299L |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,563,072 (GRCm39) |
S110P |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,555,744 (GRCm39) |
|
probably benign |
Het |
| Rarb |
T |
G |
14: 16,443,820 (GRCm38) |
N156T |
possibly damaging |
Het |
| Ruvbl1 |
A |
C |
6: 88,460,097 (GRCm39) |
|
probably null |
Het |
| S1pr1 |
G |
T |
3: 115,505,789 (GRCm39) |
C268* |
probably null |
Het |
| Sbk3 |
T |
C |
7: 4,972,996 (GRCm39) |
D58G |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tas2r119 |
T |
C |
15: 32,177,452 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,288,210 (GRCm39) |
F339L |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,039 (GRCm39) |
Y19C |
probably damaging |
Het |
| Tmprss5 |
T |
A |
9: 49,025,779 (GRCm39) |
|
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,052,521 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,038,873 (GRCm39) |
R1397* |
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,966 (GRCm39) |
M244L |
possibly damaging |
Het |
| Zfp777 |
C |
T |
6: 48,014,522 (GRCm39) |
E395K |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,935 (GRCm39) |
S156G |
probably benign |
Het |
|
| Other mutations in Rgl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Rgl3
|
APN |
9 |
21,888,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00770:Rgl3
|
APN |
9 |
21,899,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL00774:Rgl3
|
APN |
9 |
21,899,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02071:Rgl3
|
APN |
9 |
21,899,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02172:Rgl3
|
APN |
9 |
21,888,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02190:Rgl3
|
APN |
9 |
21,893,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02277:Rgl3
|
APN |
9 |
21,885,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Rgl3
|
APN |
9 |
21,885,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0077:Rgl3
|
UTSW |
9 |
21,885,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Rgl3
|
UTSW |
9 |
21,887,108 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0360:Rgl3
|
UTSW |
9 |
21,888,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0421:Rgl3
|
UTSW |
9 |
21,887,328 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0556:Rgl3
|
UTSW |
9 |
21,887,140 (GRCm39) |
nonsense |
probably null |
|
|
R0751:Rgl3
|
UTSW |
9 |
21,888,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1184:Rgl3
|
UTSW |
9 |
21,888,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1548:Rgl3
|
UTSW |
9 |
21,892,002 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2176:Rgl3
|
UTSW |
9 |
21,887,254 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3154:Rgl3
|
UTSW |
9 |
21,892,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Rgl3
|
UTSW |
9 |
21,898,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3803:Rgl3
|
UTSW |
9 |
21,887,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Rgl3
|
UTSW |
9 |
21,886,885 (GRCm39) |
intron |
probably benign |
|
|
R4081:Rgl3
|
UTSW |
9 |
21,898,971 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4937:Rgl3
|
UTSW |
9 |
21,899,004 (GRCm39) |
nonsense |
probably null |
|
|
R5068:Rgl3
|
UTSW |
9 |
21,899,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5070:Rgl3
|
UTSW |
9 |
21,899,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5217:Rgl3
|
UTSW |
9 |
21,898,944 (GRCm39) |
makesense |
probably null |
|
|
R5772:Rgl3
|
UTSW |
9 |
21,892,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6509:Rgl3
|
UTSW |
9 |
21,883,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7425:Rgl3
|
UTSW |
9 |
21,888,123 (GRCm39) |
nonsense |
probably null |
|
|
R7744:Rgl3
|
UTSW |
9 |
21,898,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7883:Rgl3
|
UTSW |
9 |
21,892,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8339:Rgl3
|
UTSW |
9 |
21,898,825 (GRCm39) |
missense |
probably benign |
|
|
R8383:Rgl3
|
UTSW |
9 |
21,888,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Rgl3
|
UTSW |
9 |
21,899,156 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8554:Rgl3
|
UTSW |
9 |
21,900,159 (GRCm39) |
missense |
probably benign |
|
|
R9189:Rgl3
|
UTSW |
9 |
21,885,356 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9380:Rgl3
|
UTSW |
9 |
21,888,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Rgl3
|
UTSW |
9 |
21,892,775 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Rgl3
|
UTSW |
9 |
21,892,699 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCACTGTGGGAGAGATG -3'
(R):5'- CACAGCCACATGCCCTGG -3'
Sequencing Primer
(F):5'- ACTGTGGGAGAGATGCCTGC -3'
(R):5'- GTCCGAGTATATGTCAGCACATCG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation