Incidental Mutation 'R8432:Arhgef40'
| ID |
653831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef40
|
| Ensembl Gene |
ENSMUSG00000004562 |
| Gene Name |
Rho guanine nucleotide exchange factor 40 |
| Synonyms |
E130112L23Rik |
| MMRRC Submission |
067882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R8432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52226857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 300
(D300E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091331
(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
AA Change: D300E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: D300E
| 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
AA Change: D300E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: D300E
| 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
AA Change: D300E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: D300E
| 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 |
probably benign
Transcript: ENSMUST00000182649
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182760
AA Change: D300E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: D300E
| 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 |
possibly damaging
Transcript: ENSMUST00000182905
AA Change: D300E
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: D300E
| 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
AA Change: D300E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: D300E
| 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 |
possibly damaging
Transcript: ENSMUST00000183208
AA Change: D300E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
AA Change: D300E
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
A |
G |
9: 122,197,317 (GRCm39) |
Y168C |
probably damaging |
Het |
| Agbl1 |
A |
C |
7: 76,774,434 (GRCm39) |
R1119S |
unknown |
Het |
| Agpat5 |
A |
T |
8: 18,896,777 (GRCm39) |
N68Y |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,728,135 (GRCm39) |
R551Q |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,088,091 (GRCm39) |
I1122V |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,013,635 (GRCm38) |
V112A |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,059,635 (GRCm39) |
L324H |
unknown |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bnip5 |
C |
T |
17: 29,118,545 (GRCm39) |
R629H |
probably benign |
Het |
| Cacng2 |
A |
G |
15: 77,897,522 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,109,484 (GRCm39) |
|
probably null |
Het |
| Cdh5 |
A |
T |
8: 104,839,698 (GRCm39) |
E56D |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,535,227 (GRCm39) |
S268R |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,386,610 (GRCm39) |
I1552F |
probably benign |
Het |
| Dhrs7 |
G |
A |
12: 72,711,581 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
G |
C |
1: 53,657,195 (GRCm39) |
I860M |
possibly damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,584,576 (GRCm39) |
M660L |
probably benign |
Het |
| Ecd |
T |
A |
14: 20,370,998 (GRCm39) |
T574S |
probably benign |
Het |
| Efna5 |
A |
G |
17: 62,958,017 (GRCm39) |
Y80H |
probably damaging |
Het |
| Ercc5 |
A |
T |
1: 44,206,841 (GRCm39) |
K585* |
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,533 (GRCm39) |
S127P |
probably benign |
Het |
| Gckr |
A |
T |
5: 31,466,447 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Gid8 |
A |
G |
2: 180,356,654 (GRCm39) |
N97S |
probably benign |
Het |
| Gm28042 |
G |
T |
2: 119,869,077 (GRCm39) |
C557F |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Gzf1 |
A |
G |
2: 148,532,115 (GRCm39) |
T581A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,110,930 (GRCm39) |
Y973N |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,804,860 (GRCm39) |
E2296G |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,324,583 (GRCm39) |
N4648I |
probably benign |
Het |
| Mlip |
A |
T |
9: 77,098,011 (GRCm39) |
D157E |
possibly damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,939,136 (GRCm39) |
V222A |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,912,378 (GRCm39) |
V1896A |
probably benign |
Het |
| Myo9a |
G |
A |
9: 59,687,548 (GRCm39) |
V218M |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,267,880 (GRCm39) |
T49S |
probably benign |
Het |
| Nsd1 |
T |
G |
13: 55,395,516 (GRCm39) |
M1142R |
possibly damaging |
Het |
| Or52e8 |
T |
G |
7: 104,625,199 (GRCm39) |
T2P |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,272 (GRCm39) |
Y65C |
probably damaging |
Het |
| Otulinl |
A |
T |
15: 27,664,818 (GRCm39) |
M46K |
possibly damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,260 (GRCm39) |
D242G |
possibly damaging |
Het |
| Pkdrej |
T |
G |
15: 85,701,494 (GRCm39) |
I1481L |
probably benign |
Het |
| Prkag1 |
T |
C |
15: 98,713,425 (GRCm39) |
I87V |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,873,080 (GRCm39) |
I74N |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,548 (GRCm39) |
S547G |
probably damaging |
Het |
| Rbm19 |
T |
G |
5: 120,313,991 (GRCm39) |
F868V |
probably damaging |
Het |
| Riok1 |
T |
C |
13: 38,221,468 (GRCm39) |
V11A |
probably benign |
Het |
| Smpd3 |
T |
A |
8: 106,984,309 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
T |
10: 23,826,053 (GRCm39) |
I200L |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,019,228 (GRCm39) |
Y139C |
probably damaging |
Het |
| Taf15 |
AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG |
AGAAGTGG |
11: 83,395,851 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,615,363 (GRCm39) |
N487K |
probably benign |
Het |
| Tex15 |
A |
C |
8: 34,066,572 (GRCm39) |
I2001L |
probably damaging |
Het |
| Tmem168 |
A |
G |
6: 13,602,535 (GRCm39) |
F277S |
probably benign |
Het |
| Trim67 |
TGCCGCCGCCGCCGC |
TGCCGCCGCCGC |
8: 125,520,801 (GRCm39) |
|
probably benign |
Het |
| Tspan1 |
G |
T |
4: 116,021,151 (GRCm39) |
Q116K |
probably benign |
Het |
| Ttc24 |
G |
A |
3: 87,977,366 (GRCm39) |
R325C |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,693,900 (GRCm39) |
E323K |
|
Het |
| Xirp2 |
A |
T |
2: 67,340,962 (GRCm39) |
M1068L |
probably benign |
Het |
| Zbtb38 |
A |
C |
9: 96,568,291 (GRCm39) |
M931R |
possibly damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,346 (GRCm39) |
*65Q |
probably null |
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 |
|
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'- AGCTGTTGGAGGTGACACTG -3'
(R):5'- GGCAGACTGACAAGGACTTC -3'
Sequencing Primer
(F):5'- ACTGCCTGTGAGGGGAAGC -3'
(R):5'- AGGACTTCCTGCTGTCTGGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation