Incidental Mutation 'R5183:Arhgef40'
| ID |
397709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef40
|
| Ensembl Gene |
ENSMUSG00000004562 |
| Gene Name |
Rho guanine nucleotide exchange factor 40 |
| Synonyms |
E130112L23Rik |
| MMRRC Submission |
042762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R5183 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52241556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1455
(V1455A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067549]
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000166169]
[ENSMUST00000182061]
[ENSMUST00000182760]
[ENSMUST00000182909]
[ENSMUST00000182905]
[ENSMUST00000183208]
[ENSMUST00000226964]
[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: V1455A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: V1455A
| 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: 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 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 |
unknown
Transcript: ENSMUST00000182217
AA Change: V52A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182504
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182828
AA Change: V6A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182760
AA Change: V1464A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: V1464A
| 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 damaging
Transcript: ENSMUST00000182909
AA Change: V1455A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: V1455A
| 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: ENSMUST00000182931
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182667
AA Change: V112A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182777
|
| 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: 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: ENSMUST00000226964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228580
|
| Meta Mutation Damage Score |
0.0890 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,171 (GRCm39) |
D8E |
probably damaging |
Het |
| Abca3 |
T |
G |
17: 24,593,427 (GRCm39) |
S275A |
probably benign |
Het |
| Adk |
A |
G |
14: 21,290,599 (GRCm39) |
N155S |
probably damaging |
Het |
| Aqp11 |
T |
C |
7: 97,386,963 (GRCm39) |
T78A |
probably benign |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,560,061 (GRCm39) |
I368F |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,371,835 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,714,759 (GRCm39) |
D2013G |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,408,558 (GRCm39) |
V1332A |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,299,832 (GRCm39) |
S1172P |
probably damaging |
Het |
| Commd2 |
A |
T |
3: 57,554,235 (GRCm39) |
D155E |
probably benign |
Het |
| Coq7 |
T |
A |
7: 118,127,490 (GRCm39) |
|
probably benign |
Het |
| Dnase2a |
T |
C |
8: 85,636,207 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dock6 |
C |
T |
9: 21,752,899 (GRCm39) |
V305I |
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,699,708 (GRCm39) |
Q2288R |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,871,609 (GRCm39) |
N3594I |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,660,414 (GRCm39) |
M284T |
probably damaging |
Het |
| Gatm |
A |
T |
2: 122,425,984 (GRCm39) |
F422L |
probably benign |
Het |
| Glrp1 |
A |
T |
1: 88,437,574 (GRCm39) |
I12N |
unknown |
Het |
| Gm5455 |
T |
A |
13: 110,441,962 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
C |
T |
19: 55,071,659 (GRCm39) |
E361K |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,023 (GRCm39) |
T126A |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsg1 |
T |
A |
6: 135,218,368 (GRCm39) |
Q176L |
probably damaging |
Het |
| Htra1 |
C |
T |
7: 130,585,446 (GRCm39) |
A412V |
possibly damaging |
Het |
| Icosl |
C |
T |
10: 77,905,319 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,813 (GRCm39) |
T1509A |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,946 (GRCm39) |
E37G |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,797,395 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,406,977 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,101,125 (GRCm39) |
L1017S |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,947 (GRCm39) |
Y898C |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,822,413 (GRCm39) |
S804R |
probably damaging |
Het |
| Miip |
A |
T |
4: 147,947,526 (GRCm39) |
F211L |
probably damaging |
Het |
| Moxd1 |
T |
G |
10: 24,155,445 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
G |
10: 24,163,034 (GRCm39) |
Y499D |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,207,577 (GRCm39) |
I24T |
probably benign |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,135,817 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,404,547 (GRCm39) |
D827E |
unknown |
Het |
| Myo1g |
G |
C |
11: 6,458,243 (GRCm39) |
L866V |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,468,170 (GRCm39) |
M475L |
probably benign |
Het |
| Ncoa2 |
A |
C |
1: 13,244,590 (GRCm39) |
L703V |
probably damaging |
Het |
| Ncoa4-ps |
A |
C |
12: 119,225,023 (GRCm39) |
|
noncoding transcript |
Het |
| Nme6 |
T |
A |
9: 109,670,557 (GRCm39) |
Y69* |
probably null |
Het |
| Nwd1 |
T |
A |
8: 73,397,714 (GRCm39) |
M651K |
probably benign |
Het |
| Or4k15c |
A |
C |
14: 50,322,003 (GRCm39) |
I45S |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,513,977 (GRCm39) |
S298R |
possibly damaging |
Het |
| Oscp1 |
A |
T |
4: 125,981,522 (GRCm39) |
E328V |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,838 (GRCm39) |
V1003A |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,559,507 (GRCm39) |
V1200A |
possibly damaging |
Het |
| Prl |
T |
C |
13: 27,241,579 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,351,232 (GRCm39) |
V575A |
probably benign |
Het |
| Rflna |
A |
T |
5: 125,088,469 (GRCm39) |
S139C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,539,038 (GRCm39) |
F27S |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,819,460 (GRCm39) |
S347P |
probably benign |
Het |
| Shmt1 |
A |
G |
11: 60,688,308 (GRCm39) |
|
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,296,477 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,585,957 (GRCm39) |
V425A |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,265 (GRCm39) |
V518A |
possibly damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,785,357 (GRCm39) |
Y78N |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,211 (GRCm39) |
H273Q |
probably damaging |
Het |
| Tle6 |
T |
A |
10: 81,428,635 (GRCm39) |
N431I |
probably damaging |
Het |
| Trim34b |
C |
A |
7: 103,979,118 (GRCm39) |
Q122K |
possibly damaging |
Het |
| Trio |
C |
A |
15: 27,902,686 (GRCm39) |
R258S |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,600,306 (GRCm39) |
D23V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,810,525 (GRCm39) |
M1K |
probably null |
Het |
| Ufsp2 |
T |
C |
8: 46,447,126 (GRCm39) |
V391A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,815,334 (GRCm39) |
L990S |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,017,519 (GRCm39) |
M234I |
probably benign |
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 |
|
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'- AAGCCCTCTGTGAGCTGTTC -3'
(R):5'- TGTAAGCATCTCCCTAGCAAC -3'
Sequencing Primer
(F):5'- CATGGAGCCAGGAGGACTTTTC -3'
(R):5'- CAACCAGATGGAAGGCTCTTTTAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation