Incidental Mutation 'R8060:Arhgef40'
ID |
643829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef40
|
Ensembl Gene |
ENSMUSG00000004562 |
Gene Name |
Rho guanine nucleotide exchange factor 40 |
Synonyms |
E130112L23Rik |
MMRRC Submission |
067496-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R8060 (G1)
|
Quality Score |
217.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 52222452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000182061]
[ENSMUST00000182193]
[ENSMUST00000182338]
[ENSMUST00000182649]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000182909]
[ENSMUST00000183208]
|
AlphaFold |
Q3UPH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093813
|
SMART Domains |
Protein: ENSMUSP00000091331 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
Pfam:RhoGEF
|
1087 |
1246 |
6.1e-9 |
PFAM |
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
low complexity region
|
1403 |
1424 |
N/A |
INTRINSIC |
low complexity region
|
1478 |
1491 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100639
|
SMART Domains |
Protein: ENSMUSP00000098204 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
Pfam:RhoGEF
|
1087 |
1246 |
5.9e-9 |
PFAM |
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
low complexity region
|
1430 |
1443 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182061
|
SMART Domains |
Protein: ENSMUSP00000138128 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
Pfam:RhoGEF
|
1087 |
1247 |
3.7e-9 |
PFAM |
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
low complexity region
|
1430 |
1443 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182338
|
SMART Domains |
Protein: ENSMUSP00000138482 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182649
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182760
|
SMART Domains |
Protein: ENSMUSP00000138125 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
low complexity region
|
782 |
801 |
N/A |
INTRINSIC |
low complexity region
|
894 |
923 |
N/A |
INTRINSIC |
low complexity region
|
967 |
1005 |
N/A |
INTRINSIC |
Pfam:RhoGEF
|
1096 |
1256 |
5.9e-9 |
PFAM |
PH
|
1273 |
1381 |
3.97e-8 |
SMART |
low complexity region
|
1412 |
1433 |
N/A |
INTRINSIC |
low complexity region
|
1487 |
1500 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182905
|
SMART Domains |
Protein: ENSMUSP00000138797 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
SCOP:d1kz7a1
|
1073 |
1162 |
4e-7 |
SMART |
Blast:RhoGEF
|
1087 |
1157 |
1e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182909
|
SMART Domains |
Protein: ENSMUSP00000138635 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
low complexity region
|
773 |
792 |
N/A |
INTRINSIC |
low complexity region
|
885 |
914 |
N/A |
INTRINSIC |
low complexity region
|
958 |
996 |
N/A |
INTRINSIC |
Pfam:RhoGEF
|
1087 |
1247 |
3.9e-9 |
PFAM |
PH
|
1264 |
1372 |
3.97e-8 |
SMART |
low complexity region
|
1403 |
1424 |
N/A |
INTRINSIC |
low complexity region
|
1478 |
1491 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183208
|
SMART Domains |
Protein: ENSMUSP00000138354 Gene: ENSMUSG00000004562
Domain | Start | End | E-Value | Type |
low complexity region
|
201 |
223 |
N/A |
INTRINSIC |
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
351 |
395 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
98% (50/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
Ano5 |
T |
A |
7: 51,237,531 (GRCm39) |
V785E |
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,004,446 (GRCm39) |
R399S |
probably damaging |
Het |
Armc3 |
G |
T |
2: 19,293,720 (GRCm39) |
V504L |
probably benign |
Het |
Asb10 |
T |
A |
5: 24,738,833 (GRCm39) |
Y408F |
probably benign |
Het |
Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
Ccdc112 |
T |
C |
18: 46,426,529 (GRCm39) |
I131M |
probably damaging |
Het |
Chrnb3 |
T |
A |
8: 27,884,588 (GRCm39) |
S442T |
unknown |
Het |
Cit |
G |
A |
5: 116,046,786 (GRCm39) |
V400M |
probably benign |
Het |
Copg1 |
T |
C |
6: 87,886,703 (GRCm39) |
F772L |
probably damaging |
Het |
Cts3 |
T |
A |
13: 61,714,580 (GRCm39) |
I242F |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,770,132 (GRCm39) |
D1797E |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,592,358 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Fam171a2 |
T |
C |
11: 102,329,436 (GRCm39) |
K441R |
possibly damaging |
Het |
H2-DMa |
A |
G |
17: 34,356,259 (GRCm39) |
E87G |
probably benign |
Het |
Has2 |
T |
A |
15: 56,533,341 (GRCm39) |
M225L |
probably benign |
Het |
Hnrnpll |
A |
G |
17: 80,341,534 (GRCm39) |
S502P |
probably damaging |
Het |
Hnrnpul1 |
G |
T |
7: 25,447,768 (GRCm39) |
F185L |
possibly damaging |
Het |
Hoxd11 |
G |
A |
2: 74,512,720 (GRCm39) |
|
probably benign |
Het |
Larp1b |
T |
C |
3: 40,939,837 (GRCm39) |
V330A |
|
Het |
Mast4 |
T |
C |
13: 102,874,184 (GRCm39) |
E1728G |
possibly damaging |
Het |
Minpp1 |
T |
A |
19: 32,471,303 (GRCm39) |
F284I |
probably damaging |
Het |
Moxd1 |
A |
G |
10: 24,177,510 (GRCm39) |
S609G |
unknown |
Het |
Myh1 |
A |
C |
11: 67,106,077 (GRCm39) |
M1231L |
probably benign |
Het |
Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
Or1e27-ps1 |
T |
C |
11: 73,555,765 (GRCm39) |
I110T |
probably benign |
Het |
Or4c10 |
A |
T |
2: 89,760,693 (GRCm39) |
N180I |
probably benign |
Het |
Or4p7 |
A |
G |
2: 88,221,848 (GRCm39) |
T86A |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,612 (GRCm39) |
T3A |
probably benign |
Het |
Or5w20 |
A |
T |
2: 87,727,317 (GRCm39) |
Y258F |
probably damaging |
Het |
Or6c205 |
A |
C |
10: 129,086,915 (GRCm39) |
T171P |
possibly damaging |
Het |
Pln |
A |
T |
10: 53,219,993 (GRCm39) |
I12F |
unknown |
Het |
Pomt2 |
G |
A |
12: 87,175,780 (GRCm39) |
A388V |
probably damaging |
Het |
Rbl2 |
T |
A |
8: 91,823,497 (GRCm39) |
|
probably null |
Het |
Rnpep |
T |
C |
1: 135,194,658 (GRCm39) |
Y459C |
probably damaging |
Het |
Slc23a4 |
T |
C |
6: 34,925,336 (GRCm39) |
T498A |
probably damaging |
Het |
Slc2a4 |
A |
T |
11: 69,835,836 (GRCm39) |
L338M |
possibly damaging |
Het |
Smco2 |
C |
A |
6: 146,768,283 (GRCm39) |
Q221K |
probably benign |
Het |
Snx20 |
G |
T |
8: 89,354,273 (GRCm39) |
C152* |
probably null |
Het |
Spata16 |
T |
C |
3: 26,894,869 (GRCm39) |
L306P |
probably damaging |
Het |
Spata20 |
A |
T |
11: 94,373,065 (GRCm39) |
F520L |
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,051,616 (GRCm39) |
D2290E |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,117,505 (GRCm39) |
T250I |
probably benign |
Het |
Trim34a |
G |
T |
7: 103,910,183 (GRCm39) |
W328C |
probably damaging |
Het |
Trim42 |
T |
G |
9: 97,245,532 (GRCm39) |
M423L |
probably damaging |
Het |
Trpm4 |
T |
C |
7: 44,954,875 (GRCm39) |
K1055E |
probably damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,465 (GRCm39) |
K238* |
probably null |
Het |
Tshr |
A |
C |
12: 91,505,134 (GRCm39) |
I691L |
probably benign |
Het |
Vmn2r-ps117 |
A |
T |
17: 19,058,124 (GRCm39) |
H560L |
possibly damaging |
Het |
|
Other mutations in Arhgef40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Arhgef40
|
APN |
14 |
52,226,417 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00848:Arhgef40
|
APN |
14 |
52,224,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00966:Arhgef40
|
APN |
14 |
52,229,155 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01123:Arhgef40
|
APN |
14 |
52,231,803 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02110:Arhgef40
|
APN |
14 |
52,226,862 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Arhgef40
|
APN |
14 |
52,226,652 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02505:Arhgef40
|
APN |
14 |
52,238,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02636:Arhgef40
|
APN |
14 |
52,234,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Arhgef40
|
UTSW |
14 |
52,234,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R0496:Arhgef40
|
UTSW |
14 |
52,242,364 (GRCm39) |
unclassified |
probably benign |
|
R0608:Arhgef40
|
UTSW |
14 |
52,234,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R0826:Arhgef40
|
UTSW |
14 |
52,238,450 (GRCm39) |
missense |
probably benign |
0.05 |
R1126:Arhgef40
|
UTSW |
14 |
52,234,583 (GRCm39) |
missense |
probably damaging |
0.96 |
R1330:Arhgef40
|
UTSW |
14 |
52,227,613 (GRCm39) |
missense |
probably benign |
0.42 |
R1612:Arhgef40
|
UTSW |
14 |
52,241,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R1794:Arhgef40
|
UTSW |
14 |
52,227,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1844:Arhgef40
|
UTSW |
14 |
52,235,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R2018:Arhgef40
|
UTSW |
14 |
52,241,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Arhgef40
|
UTSW |
14 |
52,233,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R2321:Arhgef40
|
UTSW |
14 |
52,231,733 (GRCm39) |
splice site |
probably benign |
|
R3877:Arhgef40
|
UTSW |
14 |
52,239,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R4233:Arhgef40
|
UTSW |
14 |
52,227,628 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4596:Arhgef40
|
UTSW |
14 |
52,224,681 (GRCm39) |
critical splice donor site |
probably null |
|
R4676:Arhgef40
|
UTSW |
14 |
52,228,416 (GRCm39) |
nonsense |
probably null |
|
R4703:Arhgef40
|
UTSW |
14 |
52,239,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R4704:Arhgef40
|
UTSW |
14 |
52,239,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R4719:Arhgef40
|
UTSW |
14 |
52,242,395 (GRCm39) |
unclassified |
probably benign |
|
R4915:Arhgef40
|
UTSW |
14 |
52,227,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Arhgef40
|
UTSW |
14 |
52,227,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R4918:Arhgef40
|
UTSW |
14 |
52,227,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R5097:Arhgef40
|
UTSW |
14 |
52,227,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R5183:Arhgef40
|
UTSW |
14 |
52,241,556 (GRCm39) |
missense |
probably damaging |
0.98 |
R5195:Arhgef40
|
UTSW |
14 |
52,227,269 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5367:Arhgef40
|
UTSW |
14 |
52,227,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R5381:Arhgef40
|
UTSW |
14 |
52,229,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R5594:Arhgef40
|
UTSW |
14 |
52,233,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R5632:Arhgef40
|
UTSW |
14 |
52,231,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Arhgef40
|
UTSW |
14 |
52,238,357 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5798:Arhgef40
|
UTSW |
14 |
52,234,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R5820:Arhgef40
|
UTSW |
14 |
52,224,953 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6229:Arhgef40
|
UTSW |
14 |
52,227,547 (GRCm39) |
missense |
probably benign |
0.06 |
R6451:Arhgef40
|
UTSW |
14 |
52,238,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R6633:Arhgef40
|
UTSW |
14 |
52,234,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R6642:Arhgef40
|
UTSW |
14 |
52,228,419 (GRCm39) |
unclassified |
probably benign |
|
R6675:Arhgef40
|
UTSW |
14 |
52,229,098 (GRCm39) |
missense |
probably damaging |
0.99 |
R6781:Arhgef40
|
UTSW |
14 |
52,235,354 (GRCm39) |
intron |
probably benign |
|
R6901:Arhgef40
|
UTSW |
14 |
52,234,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7852:Arhgef40
|
UTSW |
14 |
52,229,254 (GRCm39) |
missense |
unknown |
|
R7857:Arhgef40
|
UTSW |
14 |
52,226,212 (GRCm39) |
missense |
probably damaging |
0.97 |
R7914:Arhgef40
|
UTSW |
14 |
52,225,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8144:Arhgef40
|
UTSW |
14 |
52,235,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R8195:Arhgef40
|
UTSW |
14 |
52,226,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R8432:Arhgef40
|
UTSW |
14 |
52,226,857 (GRCm39) |
missense |
probably benign |
0.00 |
R8738:Arhgef40
|
UTSW |
14 |
52,238,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R8830:Arhgef40
|
UTSW |
14 |
52,241,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Arhgef40
|
UTSW |
14 |
52,235,072 (GRCm39) |
missense |
probably damaging |
0.96 |
R9712:Arhgef40
|
UTSW |
14 |
52,226,415 (GRCm39) |
missense |
probably damaging |
0.99 |
U24488:Arhgef40
|
UTSW |
14 |
52,235,673 (GRCm39) |
missense |
probably benign |
0.07 |
X0023:Arhgef40
|
UTSW |
14 |
52,241,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGGAAGAAGGCTTTTGGC -3'
(R):5'- GCAATACTCGGTAGGGACTG -3'
Sequencing Primer
(F):5'- TGAACTGATCCCGCAGAGC -3'
(R):5'- TCGGTAGGGACTGAGCAG -3'
|
Posted On |
2020-08-27 |