Incidental Mutation 'R4961:Arhgef26'
| ID |
381744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor 26 |
| Synonyms |
8430436L14Rik, 4631416L12Rik |
| MMRRC Submission |
042558-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R4961 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62367046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 793
(E793G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079300
AA Change: E793G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: E793G
| 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 |
|
| Meta Mutation Damage Score |
0.2735 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 88.3%
|
| Validation Efficiency |
95% (62/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,349,855 (GRCm39) |
K65E |
probably damaging |
Het |
| Acp5 |
C |
A |
9: 22,041,233 (GRCm39) |
A65S |
probably benign |
Het |
| Adad2 |
G |
A |
8: 120,342,397 (GRCm39) |
R345H |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,067,793 (GRCm39) |
G428W |
probably damaging |
Het |
| Amy1 |
A |
G |
3: 113,355,498 (GRCm39) |
S326P |
probably damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,703,071 (GRCm39) |
D482N |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano8 |
G |
C |
8: 71,935,640 (GRCm39) |
P326R |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,440,703 (GRCm39) |
V96E |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,914 (GRCm39) |
N561S |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,948,272 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
G |
A |
8: 123,860,498 (GRCm39) |
G484R |
probably damaging |
Het |
| Dcun1d4 |
A |
T |
5: 73,701,463 (GRCm39) |
K194* |
probably null |
Het |
| Dock3 |
A |
G |
9: 106,818,515 (GRCm39) |
V1193A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,007,904 (GRCm39) |
R113G |
possibly damaging |
Het |
| Epha5 |
A |
T |
5: 84,381,502 (GRCm39) |
S450T |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,144,190 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl3 |
A |
G |
4: 135,279,918 (GRCm39) |
Y379H |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Jam2 |
C |
T |
16: 84,606,435 (GRCm39) |
Q150* |
probably null |
Het |
| Jph2 |
C |
G |
2: 163,217,668 (GRCm39) |
R336P |
probably damaging |
Het |
| Kansl3 |
T |
A |
1: 36,387,764 (GRCm39) |
|
probably null |
Het |
| Kctd1 |
G |
A |
18: 15,195,580 (GRCm39) |
P348S |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,285,106 (GRCm39) |
S321T |
possibly damaging |
Het |
| Klhl5 |
T |
C |
5: 65,310,033 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
T |
C |
8: 26,084,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,572,161 (GRCm39) |
T187A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,431 (GRCm39) |
N216S |
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,680,234 (GRCm39) |
Y437C |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,159 (GRCm39) |
Y290H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,417,035 (GRCm39) |
|
probably null |
Het |
| Or2m12 |
C |
A |
16: 19,104,726 (GRCm39) |
G256W |
probably damaging |
Het |
| Or4k51 |
A |
T |
2: 111,584,750 (GRCm39) |
D52V |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,373,183 (GRCm39) |
Y152C |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,540,837 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,215,249 (GRCm39) |
|
probably null |
Het |
| Pgk2 |
G |
A |
17: 40,518,412 (GRCm39) |
P339S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,186,032 (GRCm39) |
|
probably null |
Het |
| Prex2 |
A |
G |
1: 11,168,705 (GRCm39) |
T234A |
possibly damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,826,922 (GRCm39) |
T177M |
probably benign |
Het |
| Rgs1 |
A |
T |
1: 144,124,309 (GRCm39) |
|
probably null |
Het |
| Snx25 |
T |
C |
8: 46,521,229 (GRCm39) |
N239S |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,716 (GRCm39) |
H804L |
possibly damaging |
Het |
| Spon2 |
A |
T |
5: 33,371,896 (GRCm39) |
Y303* |
probably null |
Het |
| Spopfm2 |
A |
T |
3: 94,082,841 (GRCm39) |
C323* |
probably null |
Het |
| Thrb |
G |
A |
14: 18,011,076 (GRCm38) |
D151N |
probably benign |
Het |
| Tns1 |
A |
G |
1: 73,975,074 (GRCm39) |
V1170A |
probably benign |
Het |
| Trbv19 |
A |
T |
6: 41,155,706 (GRCm39) |
I26F |
probably damaging |
Het |
| Tstd2 |
T |
C |
4: 46,120,467 (GRCm39) |
N311S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,746 (GRCm39) |
|
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,716 (GRCm39) |
A263V |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,239,169 (GRCm39) |
H950R |
probably damaging |
Het |
| Zfp51 |
A |
G |
17: 21,676,615 (GRCm39) |
K29E |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,081 (GRCm39) |
|
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 |
|
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 |
|
R7128:Arhgef26
|
UTSW |
3 |
62,326,971 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- ACTCCTGCTACTGTTGAGCATC -3'
(R):5'- CCGGCCAAATGAAACTCTTTG -3'
Sequencing Primer
(F):5'- ATGCATCATAAGAGTCCTCCTG -3'
(R):5'- AAACTCTTTGGACTTGAGGCTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation