Incidental Mutation 'R7128:Arhgef26'
ID |
552441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef26
|
Ensembl Gene |
ENSMUSG00000036885 |
Gene Name |
Rho guanine nucleotide exchange factor 26 |
Synonyms |
8430436L14Rik, 4631416L12Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R7128 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62326971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 495
(F495L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
AlphaFold |
D3YYY8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079300
AA Change: F495L
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078281 Gene: ENSMUSG00000036885 AA Change: F495L
Domain | Start | End | E-Value | Type |
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
RhoGEF
|
441 |
620 |
1e-45 |
SMART |
PH
|
654 |
782 |
4.04e-9 |
SMART |
SH3
|
790 |
847 |
3.82e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161057
|
SMART Domains |
Protein: ENSMUSP00000124392 Gene: ENSMUSG00000036885
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
2 |
87 |
2.3e-19 |
PFAM |
PH
|
121 |
249 |
4.04e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective activation of RhoG and reduced membrane protrusion after ICAM-1 clustering. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,347,985 (GRCm39) |
D25G |
probably benign |
Het |
Ak9 |
T |
C |
10: 41,300,713 (GRCm39) |
V1641A |
unknown |
Het |
Akirin2 |
T |
C |
4: 34,562,435 (GRCm39) |
I118T |
probably benign |
Het |
Aldh1l1 |
G |
T |
6: 90,540,361 (GRCm39) |
Q215H |
probably benign |
Het |
Atg4a-ps |
T |
A |
3: 103,553,063 (GRCm39) |
R93* |
probably null |
Het |
Brd10 |
T |
C |
19: 29,693,881 (GRCm39) |
T1871A |
possibly damaging |
Het |
Catsper3 |
A |
G |
13: 55,946,662 (GRCm39) |
I120V |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,328,579 (GRCm39) |
Q12R |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,417,188 (GRCm39) |
F39Y |
probably damaging |
Het |
Chfr |
T |
C |
5: 110,291,502 (GRCm39) |
Y107H |
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Defb4 |
T |
A |
8: 19,251,220 (GRCm39) |
I29K |
possibly damaging |
Het |
Dnah7c |
A |
G |
1: 46,566,645 (GRCm39) |
T619A |
probably benign |
Het |
Duxf1 |
T |
C |
10: 58,059,479 (GRCm39) |
Q425R |
unknown |
Het |
Emc3 |
A |
G |
6: 113,494,881 (GRCm39) |
L179P |
probably damaging |
Het |
Eno3 |
G |
C |
11: 70,549,430 (GRCm39) |
V84L |
possibly damaging |
Het |
Fam110a |
C |
T |
2: 151,812,642 (GRCm39) |
V43M |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,165,860 (GRCm39) |
L194* |
probably null |
Het |
Galnt14 |
T |
C |
17: 73,852,096 (GRCm39) |
T108A |
probably benign |
Het |
Glipr2 |
T |
C |
4: 43,968,601 (GRCm39) |
I51T |
probably benign |
Het |
Gm1527 |
C |
T |
3: 28,969,460 (GRCm39) |
S270F |
possibly damaging |
Het |
Gm3336 |
A |
G |
8: 71,171,203 (GRCm39) |
M1V |
probably null |
Het |
Gm4744 |
T |
C |
6: 40,927,310 (GRCm39) |
D15G |
|
Het |
Gm4924 |
G |
A |
10: 82,214,533 (GRCm39) |
C777Y |
unknown |
Het |
Gm5901 |
G |
A |
7: 105,027,408 (GRCm39) |
G306S |
probably damaging |
Het |
Gon4l |
T |
A |
3: 88,802,999 (GRCm39) |
N1203K |
possibly damaging |
Het |
Gpr161 |
A |
T |
1: 165,138,026 (GRCm39) |
Y204F |
possibly damaging |
Het |
Igsf10 |
T |
C |
3: 59,236,326 (GRCm39) |
E1285G |
probably benign |
Het |
Irx6 |
T |
C |
8: 93,403,994 (GRCm39) |
L187P |
probably damaging |
Het |
Itgb1bp1 |
A |
G |
12: 21,322,089 (GRCm39) |
Y117H |
probably benign |
Het |
Itln1 |
C |
A |
1: 171,358,143 (GRCm39) |
D202Y |
possibly damaging |
Het |
Kctd9 |
T |
C |
14: 67,975,972 (GRCm39) |
S242P |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,686,088 (GRCm39) |
H2143R |
probably benign |
Het |
Lynx1 |
G |
A |
15: 74,623,398 (GRCm39) |
R50* |
probably null |
Het |
Lypd11 |
C |
T |
7: 24,425,424 (GRCm39) |
|
probably null |
Het |
Map10 |
A |
G |
8: 126,398,592 (GRCm39) |
I662V |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,162,705 (GRCm39) |
L691P |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,554,300 (GRCm39) |
S3998P |
unknown |
Het |
Nalcn |
A |
T |
14: 123,831,914 (GRCm39) |
V120E |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,085,323 (GRCm39) |
S539P |
probably benign |
Het |
Olfml3 |
T |
C |
3: 103,644,484 (GRCm39) |
M62V |
probably benign |
Het |
Orm3 |
T |
C |
4: 63,276,062 (GRCm39) |
V158A |
probably benign |
Het |
Pakap |
T |
C |
4: 57,855,816 (GRCm39) |
S382P |
probably benign |
Het |
Pced1b |
A |
T |
15: 97,282,479 (GRCm39) |
K173* |
probably null |
Het |
Pdzd7 |
T |
C |
19: 45,016,388 (GRCm39) |
D911G |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,973,327 (GRCm39) |
D383G |
probably damaging |
Het |
Pm20d1 |
A |
G |
1: 131,725,292 (GRCm39) |
E46G |
probably benign |
Het |
Pyroxd2 |
A |
T |
19: 42,719,842 (GRCm39) |
S455T |
probably benign |
Het |
Rmnd5b |
T |
A |
11: 51,515,364 (GRCm39) |
I301F |
possibly damaging |
Het |
Rnf225 |
A |
G |
7: 12,661,911 (GRCm39) |
N30S |
probably benign |
Het |
Shisal2a |
G |
T |
4: 108,225,100 (GRCm39) |
T154K |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,105,721 (GRCm39) |
C573S |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,351,632 (GRCm39) |
E887G |
probably damaging |
Het |
Sp140 |
A |
T |
1: 85,547,846 (GRCm39) |
D191V |
possibly damaging |
Het |
Srf |
C |
T |
17: 46,866,372 (GRCm39) |
S128N |
possibly damaging |
Het |
Sult6b1 |
T |
C |
17: 79,202,070 (GRCm39) |
D144G |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
Syt10 |
A |
T |
15: 89,698,314 (GRCm39) |
D343E |
probably damaging |
Het |
Tgtp2 |
G |
A |
11: 48,950,135 (GRCm39) |
R146C |
possibly damaging |
Het |
Tmcc3 |
A |
T |
10: 94,266,496 (GRCm39) |
|
probably benign |
Het |
Tnfrsf1a |
A |
T |
6: 125,338,499 (GRCm39) |
T337S |
probably benign |
Het |
Tns1 |
A |
T |
1: 74,034,463 (GRCm39) |
I144N |
|
Het |
Trim11 |
A |
G |
11: 58,869,103 (GRCm39) |
E13G |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,789,137 (GRCm39) |
H569L |
possibly damaging |
Het |
Ttbk2 |
T |
A |
2: 120,576,569 (GRCm39) |
I803L |
probably benign |
Het |
Vmn1r21 |
G |
T |
6: 57,820,936 (GRCm39) |
N169K |
probably damaging |
Het |
Vmn2r60 |
C |
T |
7: 41,844,536 (GRCm39) |
T633I |
probably damaging |
Het |
Wt1 |
T |
C |
2: 104,957,670 (GRCm39) |
Y177H |
probably benign |
Het |
|
Other mutations in Arhgef26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Arhgef26
|
APN |
3 |
62,247,804 (GRCm39) |
missense |
probably benign |
|
IGL01060:Arhgef26
|
APN |
3 |
62,247,542 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01942:Arhgef26
|
APN |
3 |
62,247,515 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02085:Arhgef26
|
APN |
3 |
62,367,145 (GRCm39) |
intron |
probably benign |
|
IGL02172:Arhgef26
|
APN |
3 |
62,367,097 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03017:Arhgef26
|
APN |
3 |
62,355,702 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03101:Arhgef26
|
APN |
3 |
62,327,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03296:Arhgef26
|
APN |
3 |
62,330,926 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03401:Arhgef26
|
APN |
3 |
62,330,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0138:Arhgef26
|
UTSW |
3 |
62,355,680 (GRCm39) |
missense |
probably benign |
0.06 |
R0140:Arhgef26
|
UTSW |
3 |
62,355,666 (GRCm39) |
missense |
probably benign |
0.02 |
R0152:Arhgef26
|
UTSW |
3 |
62,330,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R0157:Arhgef26
|
UTSW |
3 |
62,288,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Arhgef26
|
UTSW |
3 |
62,247,820 (GRCm39) |
missense |
probably benign |
0.01 |
R0317:Arhgef26
|
UTSW |
3 |
62,330,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R0529:Arhgef26
|
UTSW |
3 |
62,247,146 (GRCm39) |
missense |
probably benign |
|
R0825:Arhgef26
|
UTSW |
3 |
62,334,014 (GRCm39) |
missense |
probably damaging |
0.97 |
R1331:Arhgef26
|
UTSW |
3 |
62,247,449 (GRCm39) |
missense |
probably benign |
0.00 |
R1333:Arhgef26
|
UTSW |
3 |
62,247,744 (GRCm39) |
missense |
probably benign |
0.04 |
R1351:Arhgef26
|
UTSW |
3 |
62,288,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R1740:Arhgef26
|
UTSW |
3 |
62,331,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R2121:Arhgef26
|
UTSW |
3 |
62,247,704 (GRCm39) |
missense |
probably damaging |
0.96 |
R2404:Arhgef26
|
UTSW |
3 |
62,336,336 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2437:Arhgef26
|
UTSW |
3 |
62,340,002 (GRCm39) |
missense |
probably damaging |
0.96 |
R2939:Arhgef26
|
UTSW |
3 |
62,288,331 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3084:Arhgef26
|
UTSW |
3 |
62,285,037 (GRCm39) |
missense |
probably benign |
0.19 |
R3712:Arhgef26
|
UTSW |
3 |
62,331,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R4005:Arhgef26
|
UTSW |
3 |
62,247,816 (GRCm39) |
missense |
probably benign |
|
R4225:Arhgef26
|
UTSW |
3 |
62,288,343 (GRCm39) |
missense |
probably benign |
0.00 |
R4635:Arhgef26
|
UTSW |
3 |
62,247,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Arhgef26
|
UTSW |
3 |
62,367,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Arhgef26
|
UTSW |
3 |
62,247,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5249:Arhgef26
|
UTSW |
3 |
62,247,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Arhgef26
|
UTSW |
3 |
62,327,052 (GRCm39) |
missense |
probably damaging |
0.99 |
R5661:Arhgef26
|
UTSW |
3 |
62,285,075 (GRCm39) |
splice site |
probably benign |
|
R5970:Arhgef26
|
UTSW |
3 |
62,247,468 (GRCm39) |
missense |
probably benign |
|
R6022:Arhgef26
|
UTSW |
3 |
62,336,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Arhgef26
|
UTSW |
3 |
62,247,213 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6247:Arhgef26
|
UTSW |
3 |
62,288,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R6434:Arhgef26
|
UTSW |
3 |
62,336,335 (GRCm39) |
missense |
probably damaging |
0.99 |
R6827:Arhgef26
|
UTSW |
3 |
62,330,919 (GRCm39) |
splice site |
probably null |
|
R7111:Arhgef26
|
UTSW |
3 |
62,252,689 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7360:Arhgef26
|
UTSW |
3 |
62,355,626 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7456:Arhgef26
|
UTSW |
3 |
62,247,476 (GRCm39) |
missense |
probably benign |
0.00 |
R8039:Arhgef26
|
UTSW |
3 |
62,247,351 (GRCm39) |
missense |
probably benign |
0.32 |
R8120:Arhgef26
|
UTSW |
3 |
62,248,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R8511:Arhgef26
|
UTSW |
3 |
62,336,350 (GRCm39) |
missense |
probably damaging |
0.98 |
R8887:Arhgef26
|
UTSW |
3 |
62,247,401 (GRCm39) |
missense |
probably benign |
0.04 |
R8979:Arhgef26
|
UTSW |
3 |
62,246,969 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8993:Arhgef26
|
UTSW |
3 |
62,355,525 (GRCm39) |
missense |
probably benign |
0.43 |
R9213:Arhgef26
|
UTSW |
3 |
62,340,000 (GRCm39) |
missense |
probably benign |
0.03 |
R9269:Arhgef26
|
UTSW |
3 |
62,247,920 (GRCm39) |
missense |
probably damaging |
0.98 |
R9712:Arhgef26
|
UTSW |
3 |
62,331,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Arhgef26
|
UTSW |
3 |
62,246,803 (GRCm39) |
start gained |
probably benign |
|
Z1177:Arhgef26
|
UTSW |
3 |
62,247,351 (GRCm39) |
missense |
probably benign |
0.32 |
|
Predicted Primers |
PCR Primer
(F):5'- AATATCCCGGATCCACTTAAGATC -3'
(R):5'- AGAGCATTTGACACTACTTACAGC -3'
Sequencing Primer
(F):5'- AGATCAACACTTAAAGCAGTAATGG -3'
(R):5'- TGACACTACTTACAGCAACTTCTG -3'
|
Posted On |
2019-05-15 |