Incidental Mutation 'R8830:Arhgef40'
ID |
673771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef40
|
Ensembl Gene |
ENSMUSG00000004562 |
Gene Name |
Rho guanine nucleotide exchange factor 40 |
Synonyms |
E130112L23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R8830 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 52241165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 1396
(D1396A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067549]
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000166169]
[ENSMUST00000182061]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000182909]
[ENSMUST00000183208]
[ENSMUST00000226522]
[ENSMUST00000228580]
|
AlphaFold |
Q3UPH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067549
|
SMART Domains |
Protein: ENSMUSP00000068184 Gene: ENSMUSG00000049295
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
ZnF_C2H2
|
61 |
83 |
6.23e-2 |
SMART |
ZnF_C2H2
|
89 |
111 |
4.17e-3 |
SMART |
low complexity region
|
113 |
146 |
N/A |
INTRINSIC |
ZnF_C2H2
|
167 |
190 |
3.07e-1 |
SMART |
ZnF_C2H2
|
193 |
216 |
1.51e0 |
SMART |
low complexity region
|
229 |
276 |
N/A |
INTRINSIC |
ZnF_C2H2
|
277 |
299 |
8.47e-4 |
SMART |
ZnF_C2H2
|
305 |
327 |
1.38e-3 |
SMART |
low complexity region
|
331 |
350 |
N/A |
INTRINSIC |
low complexity region
|
354 |
379 |
N/A |
INTRINSIC |
low complexity region
|
427 |
441 |
N/A |
INTRINSIC |
ZnF_C2H2
|
501 |
523 |
3.63e-3 |
SMART |
ZnF_C2H2
|
529 |
551 |
1.58e-3 |
SMART |
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
low complexity region
|
637 |
648 |
N/A |
INTRINSIC |
ZnF_C2H2
|
650 |
672 |
2.82e0 |
SMART |
low complexity region
|
675 |
684 |
N/A |
INTRINSIC |
low complexity region
|
695 |
714 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093813
AA Change: D1396A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091331 Gene: ENSMUSG00000004562 AA Change: D1396A
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 damaging
Transcript: ENSMUST00000100639
AA Change: D1396A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098204 Gene: ENSMUSG00000004562 AA Change: D1396A
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: ENSMUST00000166169
|
SMART Domains |
Protein: ENSMUSP00000126854 Gene: ENSMUSG00000049295
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
ZnF_C2H2
|
61 |
83 |
6.23e-2 |
SMART |
ZnF_C2H2
|
89 |
111 |
4.17e-3 |
SMART |
low complexity region
|
113 |
146 |
N/A |
INTRINSIC |
ZnF_C2H2
|
167 |
190 |
3.07e-1 |
SMART |
ZnF_C2H2
|
193 |
216 |
1.51e0 |
SMART |
low complexity region
|
229 |
276 |
N/A |
INTRINSIC |
ZnF_C2H2
|
277 |
299 |
8.47e-4 |
SMART |
ZnF_C2H2
|
305 |
327 |
1.38e-3 |
SMART |
low complexity region
|
331 |
350 |
N/A |
INTRINSIC |
low complexity region
|
354 |
379 |
N/A |
INTRINSIC |
low complexity region
|
427 |
441 |
N/A |
INTRINSIC |
ZnF_C2H2
|
501 |
523 |
3.63e-3 |
SMART |
ZnF_C2H2
|
529 |
551 |
1.58e-3 |
SMART |
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
low complexity region
|
637 |
648 |
N/A |
INTRINSIC |
ZnF_C2H2
|
650 |
672 |
2.82e0 |
SMART |
low complexity region
|
675 |
684 |
N/A |
INTRINSIC |
low complexity region
|
695 |
714 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182061
AA Change: D1396A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138128 Gene: ENSMUSG00000004562 AA Change: D1396A
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: ENSMUST00000182217
|
Predicted Effect |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182760
AA Change: D1405A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138125 Gene: ENSMUSG00000004562 AA Change: D1405A
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: ENSMUST00000182828
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000138635 Gene: ENSMUSG00000004562 AA Change: D1396A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226522
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228580
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (68/68) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
T |
3: 59,654,744 (GRCm39) |
T193S |
probably benign |
Het |
Abca7 |
T |
A |
10: 79,844,805 (GRCm39) |
V1509E |
probably damaging |
Het |
Abraxas2 |
A |
G |
7: 132,485,085 (GRCm39) |
D376G |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 75,985,059 (GRCm39) |
T159A |
|
Het |
Ahnak2 |
G |
A |
12: 112,750,656 (GRCm39) |
R89W |
|
Het |
Ajm1 |
T |
G |
2: 25,467,262 (GRCm39) |
D883A |
|
Het |
Atp13a5 |
A |
T |
16: 29,066,928 (GRCm39) |
F1060I |
probably damaging |
Het |
Atp6v1c1 |
T |
A |
15: 38,677,789 (GRCm39) |
F105I |
probably damaging |
Het |
Atp9b |
C |
T |
18: 80,809,015 (GRCm39) |
E635K |
|
Het |
Brix1 |
T |
A |
15: 10,479,682 (GRCm39) |
Q124L |
possibly damaging |
Het |
Cep68 |
A |
G |
11: 20,180,418 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,195,565 (GRCm39) |
S2208P |
unknown |
Het |
Crisp1 |
T |
A |
17: 40,605,310 (GRCm39) |
K234* |
probably null |
Het |
Cryzl1 |
C |
T |
16: 91,509,092 (GRCm39) |
V70I |
probably benign |
Het |
Cybc1 |
C |
T |
11: 121,119,549 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,230,953 (GRCm39) |
Y1404H |
probably damaging |
Het |
Dot1l |
A |
G |
10: 80,607,033 (GRCm39) |
H109R |
possibly damaging |
Het |
E330034G19Rik |
A |
C |
14: 24,359,576 (GRCm39) |
H329P |
unknown |
Het |
Erbb4 |
A |
T |
1: 68,114,627 (GRCm39) |
L939Q |
probably damaging |
Het |
Fst |
A |
T |
13: 114,592,364 (GRCm39) |
C118S |
probably damaging |
Het |
Gfra3 |
A |
G |
18: 34,844,189 (GRCm39) |
V117A |
possibly damaging |
Het |
Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,738,520 (GRCm39) |
M1481T |
probably benign |
Het |
Hecw2 |
G |
A |
1: 53,930,305 (GRCm39) |
R1045C |
probably damaging |
Het |
Hexb |
C |
T |
13: 97,330,762 (GRCm39) |
V84I |
probably benign |
Het |
Hpse |
T |
C |
5: 100,843,452 (GRCm39) |
E240G |
probably benign |
Het |
Hspa12a |
T |
C |
19: 58,793,895 (GRCm39) |
D322G |
possibly damaging |
Het |
Hspa9 |
A |
T |
18: 35,081,157 (GRCm39) |
|
probably null |
Het |
Kif9 |
A |
G |
9: 110,353,998 (GRCm39) |
K790R |
probably damaging |
Het |
Klc2 |
C |
T |
19: 5,160,394 (GRCm39) |
|
probably null |
Het |
Ldha |
C |
G |
7: 46,499,702 (GRCm39) |
N144K |
probably benign |
Het |
Mical2 |
A |
G |
7: 111,980,403 (GRCm39) |
T126A |
probably benign |
Het |
Mrpl15 |
A |
T |
1: 4,852,807 (GRCm39) |
V137D |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,557,365 (GRCm39) |
T2976I |
unknown |
Het |
Mybpc2 |
A |
T |
7: 44,161,965 (GRCm39) |
V495D |
probably damaging |
Het |
Or10a5 |
A |
G |
7: 106,635,889 (GRCm39) |
N176D |
probably benign |
Het |
Or52ab2 |
A |
G |
7: 102,970,212 (GRCm39) |
K198R |
|
Het |
Or6c203 |
A |
T |
10: 129,010,715 (GRCm39) |
Y58* |
probably null |
Het |
Pcnt |
G |
A |
10: 76,218,008 (GRCm39) |
T2089I |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,021,512 (GRCm39) |
D563G |
probably damaging |
Het |
Phlpp1 |
T |
G |
1: 106,278,333 (GRCm39) |
L915R |
probably damaging |
Het |
Plekhh2 |
T |
A |
17: 84,829,231 (GRCm39) |
I34N |
probably damaging |
Het |
Pou6f2 |
T |
A |
13: 18,553,083 (GRCm39) |
T84S |
|
Het |
Prxl2c |
G |
A |
13: 64,445,114 (GRCm39) |
Q170* |
probably null |
Het |
Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
Pvrig-ps |
T |
G |
5: 138,340,410 (GRCm39) |
|
probably benign |
Het |
Rasl10b |
A |
T |
11: 83,303,502 (GRCm39) |
I20F |
probably damaging |
Het |
Rimbp3 |
T |
A |
16: 17,026,870 (GRCm39) |
V98E |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,300,758 (GRCm39) |
I355T |
possibly damaging |
Het |
Slc1a2 |
A |
G |
2: 102,566,360 (GRCm39) |
H30R |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,810,794 (GRCm39) |
V389M |
possibly damaging |
Het |
Slc7a13 |
T |
C |
4: 19,819,189 (GRCm39) |
S130P |
probably benign |
Het |
Sp140 |
TTTTTTTT |
TTTTTTTTTTTTT |
1: 85,572,295 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
A |
3: 100,032,751 (GRCm39) |
H2320Q |
possibly damaging |
Het |
Speer4a1 |
T |
C |
5: 26,241,793 (GRCm39) |
E111G |
possibly damaging |
Het |
Ss18l1 |
T |
C |
2: 179,709,131 (GRCm39) |
Y397H |
unknown |
Het |
Tbck |
T |
C |
3: 132,543,818 (GRCm39) |
S890P |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,299,204 (GRCm39) |
E17G |
probably benign |
Het |
Tesk2 |
C |
T |
4: 116,659,484 (GRCm39) |
R315C |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,556,383 (GRCm39) |
N45S |
probably benign |
Het |
Trim10 |
C |
T |
17: 37,180,846 (GRCm39) |
P26S |
probably damaging |
Het |
Vmac |
C |
A |
17: 57,022,573 (GRCm39) |
G146C |
probably damaging |
Het |
Vmn1r14 |
G |
A |
6: 57,211,017 (GRCm39) |
M198I |
probably damaging |
Het |
Vmn1r194 |
T |
C |
13: 22,429,006 (GRCm39) |
Y208H |
possibly damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,887,118 (GRCm39) |
C243Y |
probably damaging |
Het |
Wasf3 |
C |
T |
5: 146,403,672 (GRCm39) |
Q261* |
probably null |
Het |
Ybx2 |
A |
G |
11: 69,827,063 (GRCm39) |
K88R |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,463,949 (GRCm39) |
R1394H |
probably damaging |
Het |
Zfp871 |
T |
C |
17: 32,993,901 (GRCm39) |
T425A |
probably benign |
Het |
Zfy2 |
C |
T |
Y: 2,106,600 (GRCm39) |
S678N |
possibly damaging |
Het |
Zswim4 |
T |
C |
8: 84,949,945 (GRCm39) |
E650G |
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 |
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 |
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'- CATGCCTTGATAGCCGGGAAAG -3'
(R):5'- AACAGCTCACAGAGGGCTTC -3'
Sequencing Primer
(F):5'- CTTGATAGCCGGGAAAGGGGAG -3'
(R):5'- GGGCTTCCCAGGGAACC -3'
|
Posted On |
2021-07-15 |