Incidental Mutation 'R2404:Arhgef26'
| ID |
248851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor 26 |
| Synonyms |
8430436L14Rik, 4631416L12Rik |
| MMRRC Submission |
040370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R2404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62336336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 625
(M625T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079300
AA Change: M625T
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: M625T
| 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 |
unknown
Transcript: ENSMUST00000161057
AA Change: M91T
|
| SMART Domains |
Protein: ENSMUSP00000124392
Gene: ENSMUSG00000036885
AA Change: M91T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
2 |
87 |
2.3e-19 |
PFAM |
|
PH
|
121 |
249 |
4.04e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192138
|
| Meta Mutation Damage Score |
0.3043 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
| Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
| Atp9a |
T |
A |
2: 168,517,283 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
| Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,185,999 (GRCm39) |
P495S |
probably benign |
Het |
| Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif12 |
A |
C |
4: 63,088,790 (GRCm39) |
L170R |
probably damaging |
Het |
| Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
| Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5k17 |
G |
A |
16: 58,745,998 (GRCm39) |
S312L |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
| Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
| Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
| Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
| Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
| Tshz3 |
A |
T |
7: 36,469,805 (GRCm39) |
Q598L |
probably damaging |
Het |
| Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
| Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
| Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
probably damaging |
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 |
|
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 |
|
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'- AACGGGTCCCTGGAATTTCTG -3'
(R):5'- GAGACACCCTTAGGCATCTG -3'
Sequencing Primer
(F):5'- CCCTGGAATTTCTGGAAAGTAGATC -3'
(R):5'- ACCCTTAGGCATCTGGGGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation