Incidental Mutation 'R4676:Arhgef40'
| ID |
349603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef40
|
| Ensembl Gene |
ENSMUSG00000004562 |
| Gene Name |
Rho guanine nucleotide exchange factor 40 |
| Synonyms |
E130112L23Rik |
| MMRRC Submission |
042013-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R4676 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 52228416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 554
(C554*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000182061]
[ENSMUST00000182193]
[ENSMUST00000182338]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000182909]
[ENSMUST00000183208]
[ENSMUST00000182649]
|
| AlphaFold |
Q3UPH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093813
AA Change: C554*
|
| SMART Domains |
Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: C554*
| 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 null
Transcript: ENSMUST00000100639
AA Change: C554*
|
| SMART Domains |
Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: C554*
| 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 |
noncoding transcript
Transcript: ENSMUST00000181008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182019
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182061
AA Change: C554*
|
| SMART Domains |
Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: C554*
| 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 null
Transcript: ENSMUST00000182760
AA Change: C554*
|
| SMART Domains |
Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: C554*
| 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 null
Transcript: ENSMUST00000182905
AA Change: C554*
|
| SMART Domains |
Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: C554*
| 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 null
Transcript: ENSMUST00000182909
AA Change: C554*
|
| SMART Domains |
Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: C554*
| 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 |
noncoding transcript
Transcript: ENSMUST00000182961
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183208
AA Change: P499T
|
| SMART Domains |
Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
AA Change: P499T
| 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 |
noncoding transcript
Transcript: ENSMUST00000182480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182649
|
| Meta Mutation Damage Score |
0.9711 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (93/95) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
A |
1: 120,078,382 (GRCm39) |
I13N |
probably damaging |
Het |
| Abcd3 |
T |
A |
3: 121,567,815 (GRCm39) |
T409S |
possibly damaging |
Het |
| Acad12 |
C |
A |
5: 121,745,234 (GRCm39) |
W317L |
probably damaging |
Het |
| Acap1 |
T |
A |
11: 69,780,294 (GRCm39) |
M50L |
probably benign |
Het |
| Acvr1b |
T |
A |
15: 101,100,867 (GRCm39) |
V343E |
probably damaging |
Het |
| Adgb |
C |
A |
10: 10,302,454 (GRCm39) |
G371W |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,082,774 (GRCm39) |
K1966R |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,114,515 (GRCm39) |
Q48* |
probably null |
Het |
| Ano10 |
T |
C |
9: 122,092,853 (GRCm39) |
R159G |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,517,983 (GRCm39) |
M128V |
probably benign |
Het |
| Atf6 |
T |
C |
1: 170,614,979 (GRCm39) |
Y538C |
probably damaging |
Het |
| Atp8b1 |
A |
C |
18: 64,671,749 (GRCm39) |
D1091E |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,102,010 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Bcas2 |
A |
G |
3: 103,083,017 (GRCm39) |
|
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,211,056 (GRCm39) |
N463D |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,081,216 (GRCm39) |
H411L |
possibly damaging |
Het |
| Cavin3 |
T |
C |
7: 105,130,320 (GRCm39) |
E164G |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,759,536 (GRCm39) |
|
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,830,368 (GRCm39) |
V858A |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,383,685 (GRCm39) |
|
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,877,720 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,505,341 (GRCm39) |
L2157I |
probably damaging |
Het |
| Cspg4b |
T |
G |
13: 113,505,342 (GRCm39) |
L2157R |
probably damaging |
Het |
| Cul3 |
G |
A |
1: 80,249,391 (GRCm39) |
L561F |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,524,761 (GRCm39) |
I131N |
probably damaging |
Het |
| Dlgap3 |
T |
A |
4: 127,127,554 (GRCm39) |
Y741N |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,794 (GRCm39) |
V265A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,295,406 (GRCm39) |
I1380F |
possibly damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,628,975 (GRCm39) |
L4177F |
probably damaging |
Het |
| Ethe1 |
G |
A |
7: 24,307,319 (GRCm39) |
V178M |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,153 (GRCm39) |
|
probably null |
Het |
| Get3 |
C |
T |
8: 85,745,502 (GRCm39) |
A219T |
probably benign |
Het |
| Glt8d1 |
T |
C |
14: 30,728,649 (GRCm39) |
F26L |
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,054 (GRCm39) |
D63E |
probably benign |
Het |
| Gm9996 |
T |
A |
10: 29,019,834 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,266 (GRCm39) |
S629R |
possibly damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,447,462 (GRCm39) |
S381P |
probably damaging |
Het |
| Igsf10 |
A |
C |
3: 59,233,370 (GRCm39) |
F1788V |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,642,864 (GRCm39) |
P935Q |
probably damaging |
Het |
| Itch |
A |
C |
2: 155,041,355 (GRCm39) |
I468L |
probably benign |
Het |
| Itga5 |
A |
T |
15: 103,265,637 (GRCm39) |
Y192N |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,643,643 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,640,906 (GRCm39) |
Q302L |
probably null |
Het |
| Kctd17 |
T |
A |
15: 78,319,959 (GRCm39) |
|
probably benign |
Het |
| Lsm1 |
T |
C |
8: 26,283,717 (GRCm39) |
L43P |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,923,141 (GRCm39) |
M1192K |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,322,817 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,483,606 (GRCm39) |
V597A |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,477,855 (GRCm39) |
F63Y |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,573,788 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,416,427 (GRCm39) |
T45S |
possibly damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,149,654 (GRCm39) |
R420S |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,309,736 (GRCm39) |
D317G |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,666,955 (GRCm39) |
|
probably benign |
Het |
| Or9i16 |
C |
T |
19: 13,864,765 (GRCm39) |
D270N |
probably damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,838 (GRCm39) |
I46F |
possibly damaging |
Het |
| Pde5a |
A |
T |
3: 122,541,542 (GRCm39) |
M11L |
possibly damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,939,503 (GRCm39) |
R1416Q |
possibly damaging |
Het |
| Polm |
A |
T |
11: 5,785,749 (GRCm39) |
Y141* |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,612,975 (GRCm39) |
F32L |
probably damaging |
Het |
| Scrt1 |
T |
A |
15: 76,405,868 (GRCm39) |
D13V |
possibly damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,834,871 (GRCm39) |
V79E |
possibly damaging |
Het |
| Snurf |
T |
C |
7: 59,645,270 (GRCm39) |
Q48R |
probably benign |
Het |
| Srek1 |
T |
C |
13: 103,894,695 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
T |
C |
16: 37,076,246 (GRCm39) |
S267G |
probably damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,409 (GRCm39) |
R320W |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,660,403 (GRCm39) |
N106K |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,781,531 (GRCm39) |
L207Q |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,501 (GRCm39) |
E849G |
probably damaging |
Het |
| Tedc2 |
T |
C |
17: 24,438,985 (GRCm39) |
T111A |
probably benign |
Het |
| Tfg |
T |
A |
16: 56,514,854 (GRCm39) |
|
probably null |
Het |
| Tgds |
A |
T |
14: 118,353,643 (GRCm39) |
S225T |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,852,671 (GRCm39) |
Y134* |
probably null |
Het |
| Trappc1 |
T |
A |
11: 69,216,356 (GRCm39) |
V134D |
probably damaging |
Het |
| Ttc3 |
C |
A |
16: 94,243,620 (GRCm39) |
P853Q |
probably damaging |
Het |
| Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
| Ttf1 |
A |
G |
2: 28,964,606 (GRCm39) |
S643G |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,700,171 (GRCm39) |
S338T |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,067,007 (GRCm39) |
I271T |
possibly damaging |
Het |
| Vipas39 |
T |
A |
12: 87,288,075 (GRCm39) |
Y445F |
probably damaging |
Het |
| Vmn1r31 |
A |
C |
6: 58,448,998 (GRCm39) |
I289S |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,685 (GRCm39) |
E551G |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,093,854 (GRCm39) |
Y446* |
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,251,526 (GRCm39) |
H124Q |
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 |
|
|
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 |
|
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'- CAACAGCTTGAAAACCTGAGGG -3'
Sequencing Primer
(F):5'- CATGTTAGACACACACAGGGTAG -3'
(R):5'- CTTGAAAACCTGAGGGCTGAAATAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation