Incidental Mutation 'R7174:Rgl2'
ID |
558518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgl2
|
Ensembl Gene |
ENSMUSG00000041354 |
Gene Name |
ral guanine nucleotide dissociation stimulator-like 2 |
Synonyms |
Rlf, Rgt2, Rab2l, KE1.5 |
MMRRC Submission |
045266-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R7174 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34153964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 457
(F457L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000174048]
[ENSMUST00000174426]
[ENSMUST00000179418]
|
AlphaFold |
Q61193 |
PDB Structure |
STRUCTURE DETERMINATION OF THE RAS-BINDING DOMAIN OF THE RAL-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR RLF, NMR, 10 STRUCTURES [SOLUTION NMR]
The conformation of a docking site for SH3 domains is pre-selected in the Guanine Nucleotide Exchange Factor Rlf [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025163
|
SMART Domains |
Protein: ENSMUSP00000025163 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
9.6e-29 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047503
AA Change: F457L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: F457L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
low complexity region
|
44 |
63 |
N/A |
INTRINSIC |
RasGEFN
|
87 |
212 |
9.54e-30 |
SMART |
RasGEF
|
239 |
514 |
7.15e-106 |
SMART |
low complexity region
|
578 |
592 |
N/A |
INTRINSIC |
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
low complexity region
|
633 |
648 |
N/A |
INTRINSIC |
RA
|
649 |
736 |
2.05e-19 |
SMART |
low complexity region
|
737 |
762 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000134312 Gene: ENSMUSG00000041354 AA Change: F21L
Domain | Start | End | E-Value | Type |
Blast:RasGEF
|
2 |
67 |
1e-35 |
BLAST |
PDB:4JGW|B
|
2 |
67 |
1e-35 |
PDB |
SCOP:d1bkds_
|
2 |
94 |
3e-16 |
SMART |
low complexity region
|
131 |
145 |
N/A |
INTRINSIC |
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
RA
|
202 |
289 |
2.05e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173363
|
SMART Domains |
Protein: ENSMUSP00000138662 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
1 |
89 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174048
|
SMART Domains |
Protein: ENSMUSP00000133656 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174426
|
SMART Domains |
Protein: ENSMUSP00000134069 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
1 |
89 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179418
|
SMART Domains |
Protein: ENSMUSP00000137072 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.8096 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
C |
A |
5: 144,981,627 (GRCm39) |
A154E |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,596,060 (GRCm39) |
A419S |
probably benign |
Het |
Arap2 |
C |
G |
5: 62,761,621 (GRCm39) |
V1702L |
probably benign |
Het |
Arpc1a |
C |
T |
5: 145,034,087 (GRCm39) |
P152S |
probably benign |
Het |
Bbs10 |
T |
A |
10: 111,136,628 (GRCm39) |
C580* |
probably null |
Het |
Bcam |
A |
G |
7: 19,499,376 (GRCm39) |
Y216H |
probably damaging |
Het |
C2cd3 |
T |
C |
7: 100,081,405 (GRCm39) |
S1016P |
|
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
T |
A |
7: 17,491,839 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,446,264 (GRCm39) |
V666A |
probably benign |
Het |
Cntn3 |
A |
G |
6: 102,142,305 (GRCm39) |
F1021L |
probably benign |
Het |
Cr1l |
C |
T |
1: 194,811,497 (GRCm39) |
G119D |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,851,942 (GRCm39) |
H8L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,903,436 (GRCm39) |
|
probably null |
Het |
Frem1 |
G |
T |
4: 82,840,493 (GRCm39) |
T1811N |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,298,356 (GRCm39) |
Q227L |
probably benign |
Het |
Galk2 |
A |
G |
2: 125,738,621 (GRCm39) |
I138M |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,582 (GRCm39) |
V7A |
possibly damaging |
Het |
Katnb1 |
G |
A |
8: 95,824,069 (GRCm39) |
A450T |
probably benign |
Het |
Kif14 |
A |
T |
1: 136,448,995 (GRCm39) |
E1465V |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,312,941 (GRCm39) |
|
probably null |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lepr |
A |
G |
4: 101,607,535 (GRCm39) |
N251S |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,263,416 (GRCm39) |
M4379V |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,060,826 (GRCm39) |
N92S |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,745,006 (GRCm39) |
N855S |
probably damaging |
Het |
Marf1 |
T |
A |
16: 13,954,817 (GRCm39) |
D900V |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,321,884 (GRCm39) |
M1087K |
probably benign |
Het |
Nlrp9c |
T |
C |
7: 26,084,722 (GRCm39) |
N286D |
probably benign |
Het |
Or12j4 |
T |
C |
7: 140,047,076 (GRCm39) |
*321Q |
probably null |
Het |
Or13c7d |
C |
T |
4: 43,770,691 (GRCm39) |
A107T |
not run |
Het |
Or4k2 |
T |
C |
14: 50,424,153 (GRCm39) |
I175V |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,598 (GRCm39) |
R305* |
probably null |
Het |
Or5g9 |
C |
T |
2: 85,552,297 (GRCm39) |
P183S |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,367 (GRCm39) |
S196R |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,808,980 (GRCm39) |
T478A |
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,199,587 (GRCm39) |
I385T |
probably benign |
Het |
Poteg |
C |
T |
8: 27,943,305 (GRCm39) |
R192W |
probably benign |
Het |
Prmt2 |
G |
T |
10: 76,061,173 (GRCm39) |
D104E |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,027,090 (GRCm39) |
N190S |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,816,063 (GRCm39) |
D641G |
possibly damaging |
Het |
Sh3gl1 |
A |
T |
17: 56,324,846 (GRCm39) |
M303K |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,018,892 (GRCm39) |
V649A |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,765,323 (GRCm39) |
N376D |
possibly damaging |
Het |
Socs3 |
A |
T |
11: 117,858,553 (GRCm39) |
Y168* |
probably null |
Het |
Spata31d1d |
A |
T |
13: 59,876,394 (GRCm39) |
N380K |
possibly damaging |
Het |
Speer1c |
T |
C |
5: 10,295,237 (GRCm39) |
K56E |
probably damaging |
Het |
Ssbp3 |
A |
G |
4: 106,894,843 (GRCm39) |
N254S |
probably benign |
Het |
Stard10 |
C |
T |
7: 100,995,226 (GRCm39) |
S326L |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,912,135 (GRCm39) |
D524G |
possibly damaging |
Het |
Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
Tchh |
C |
T |
3: 93,353,478 (GRCm39) |
R973C |
unknown |
Het |
Tmem67 |
T |
C |
4: 12,077,337 (GRCm39) |
R172G |
possibly damaging |
Het |
Top2a |
C |
A |
11: 98,914,922 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
T |
A |
12: 98,940,960 (GRCm39) |
N323K |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,804,667 (GRCm39) |
N276D |
probably benign |
Het |
Usp24 |
T |
G |
4: 106,219,878 (GRCm39) |
|
probably null |
Het |
Vmn1r18 |
A |
C |
6: 57,366,609 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
A |
T |
7: 12,315,628 (GRCm39) |
H730Q |
probably benign |
Het |
Wnk1 |
A |
C |
6: 119,947,939 (GRCm39) |
I500M |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,744,423 (GRCm39) |
Y451N |
probably damaging |
Het |
Zfp683 |
T |
A |
4: 133,783,064 (GRCm39) |
I176N |
probably damaging |
Het |
|
Other mutations in Rgl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Rgl2
|
APN |
17 |
34,152,110 (GRCm39) |
missense |
probably benign |
0.31 |
IGL00898:Rgl2
|
APN |
17 |
34,152,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00965:Rgl2
|
APN |
17 |
34,154,910 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00985:Rgl2
|
APN |
17 |
34,151,075 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02140:Rgl2
|
APN |
17 |
34,152,098 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02214:Rgl2
|
APN |
17 |
34,154,163 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02486:Rgl2
|
APN |
17 |
34,154,954 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02579:Rgl2
|
APN |
17 |
34,156,134 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02976:Rgl2
|
APN |
17 |
34,152,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
Hypotenuse
|
UTSW |
17 |
34,150,713 (GRCm39) |
missense |
probably benign |
0.00 |
Pedernales
|
UTSW |
17 |
34,151,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
PIT4354001:Rgl2
|
UTSW |
17 |
34,152,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0347:Rgl2
|
UTSW |
17 |
34,151,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R0456:Rgl2
|
UTSW |
17 |
34,155,823 (GRCm39) |
splice site |
probably null |
|
R0825:Rgl2
|
UTSW |
17 |
34,154,133 (GRCm39) |
splice site |
probably null |
|
R1742:Rgl2
|
UTSW |
17 |
34,156,197 (GRCm39) |
splice site |
probably null |
|
R1777:Rgl2
|
UTSW |
17 |
34,150,718 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Rgl2
|
UTSW |
17 |
34,152,595 (GRCm39) |
missense |
probably benign |
0.00 |
R1908:Rgl2
|
UTSW |
17 |
34,151,122 (GRCm39) |
missense |
probably benign |
0.00 |
R1961:Rgl2
|
UTSW |
17 |
34,152,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Rgl2
|
UTSW |
17 |
34,152,314 (GRCm39) |
splice site |
probably null |
|
R3001:Rgl2
|
UTSW |
17 |
34,151,579 (GRCm39) |
missense |
probably benign |
0.00 |
R3002:Rgl2
|
UTSW |
17 |
34,151,579 (GRCm39) |
missense |
probably benign |
0.00 |
R3755:Rgl2
|
UTSW |
17 |
34,151,571 (GRCm39) |
missense |
probably benign |
0.01 |
R3756:Rgl2
|
UTSW |
17 |
34,151,571 (GRCm39) |
missense |
probably benign |
0.01 |
R3978:Rgl2
|
UTSW |
17 |
34,154,136 (GRCm39) |
missense |
probably benign |
0.02 |
R4042:Rgl2
|
UTSW |
17 |
34,156,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R4064:Rgl2
|
UTSW |
17 |
34,156,082 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4204:Rgl2
|
UTSW |
17 |
34,155,906 (GRCm39) |
missense |
probably benign |
0.04 |
R4661:Rgl2
|
UTSW |
17 |
34,152,200 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4852:Rgl2
|
UTSW |
17 |
34,156,147 (GRCm39) |
missense |
probably benign |
0.00 |
R4922:Rgl2
|
UTSW |
17 |
34,151,749 (GRCm39) |
unclassified |
probably benign |
|
R5119:Rgl2
|
UTSW |
17 |
34,156,094 (GRCm39) |
missense |
probably benign |
0.00 |
R5167:Rgl2
|
UTSW |
17 |
34,154,948 (GRCm39) |
nonsense |
probably null |
|
R5279:Rgl2
|
UTSW |
17 |
34,154,922 (GRCm39) |
missense |
probably benign |
|
R5319:Rgl2
|
UTSW |
17 |
34,152,529 (GRCm39) |
missense |
probably benign |
0.02 |
R5337:Rgl2
|
UTSW |
17 |
34,153,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R5881:Rgl2
|
UTSW |
17 |
34,151,691 (GRCm39) |
missense |
probably benign |
0.01 |
R5945:Rgl2
|
UTSW |
17 |
34,151,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6165:Rgl2
|
UTSW |
17 |
34,150,739 (GRCm39) |
missense |
probably benign |
0.01 |
R6358:Rgl2
|
UTSW |
17 |
34,156,105 (GRCm39) |
splice site |
probably null |
|
R6867:Rgl2
|
UTSW |
17 |
34,151,661 (GRCm39) |
missense |
probably benign |
0.09 |
R7182:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7183:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7184:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7196:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7253:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7254:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7255:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7256:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7282:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Rgl2
|
UTSW |
17 |
34,151,657 (GRCm39) |
missense |
probably benign |
0.32 |
R7513:Rgl2
|
UTSW |
17 |
34,151,529 (GRCm39) |
missense |
probably benign |
|
R7752:Rgl2
|
UTSW |
17 |
34,154,799 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7901:Rgl2
|
UTSW |
17 |
34,154,799 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7941:Rgl2
|
UTSW |
17 |
34,150,713 (GRCm39) |
missense |
probably benign |
0.00 |
R8158:Rgl2
|
UTSW |
17 |
34,155,918 (GRCm39) |
missense |
probably benign |
0.27 |
R8209:Rgl2
|
UTSW |
17 |
34,151,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8226:Rgl2
|
UTSW |
17 |
34,151,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8405:Rgl2
|
UTSW |
17 |
34,152,698 (GRCm39) |
nonsense |
probably null |
|
R8871:Rgl2
|
UTSW |
17 |
34,153,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9205:Rgl2
|
UTSW |
17 |
34,155,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R9591:Rgl2
|
UTSW |
17 |
34,151,451 (GRCm39) |
missense |
possibly damaging |
0.50 |
X0028:Rgl2
|
UTSW |
17 |
34,151,432 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTGAGTGTCAAGTGGAGC -3'
(R):5'- TTCTTTCTGGAGGCGCAACAG -3'
Sequencing Primer
(F):5'- GCTACACAGTGAGTCCCAGTCTC -3'
(R):5'- GGCGCAACAGCTCCGAAAG -3'
|
Posted On |
2019-06-26 |