Incidental Mutation 'R6642:Arhgef40'
ID |
543606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef40
|
Ensembl Gene |
ENSMUSG00000004562 |
Gene Name |
Rho guanine nucleotide exchange factor 40 |
Synonyms |
E130112L23Rik |
MMRRC Submission |
044763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R6642 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 52228419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138638
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000182061]
[ENSMUST00000182193]
[ENSMUST00000182338]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000182909]
[ENSMUST00000183208]
[ENSMUST00000182649]
|
AlphaFold |
Q3UPH7 |
Predicted Effect |
silent
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 |
silent
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 |
silent
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: ENSMUST00000182412
|
Predicted Effect |
silent
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 |
silent
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 |
silent
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 |
unknown
Transcript: ENSMUST00000183208
AA Change: S500P
|
SMART Domains |
Protein: ENSMUSP00000138354 Gene: ENSMUSG00000004562 AA Change: S500P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182649
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably 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 |
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 |
R8060:Arhgef40
|
UTSW |
14 |
52,222,452 (GRCm39) |
splice site |
probably benign |
|
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'- CGCACAAACAAGGACATGTTAG -3'
(R):5'- CAACAGCTTGAAAACCTGAGG -3'
Sequencing Primer
(F):5'- CATGTTAGACACACACAGGGTAG -3'
(R):5'- CTTGAAAACCTGAGGGCTGAAATAG -3'
|
Posted On |
2019-03-29 |