Incidental Mutation 'R2321:Arhgef40'
| ID |
245652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef40
|
| Ensembl Gene |
ENSMUSG00000004562 |
| Gene Name |
Rho guanine nucleotide exchange factor 40 |
| Synonyms |
E130112L23Rik |
| MMRRC Submission |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 52231733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000182061]
[ENSMUST00000183208]
[ENSMUST00000182909]
[ENSMUST00000182760]
[ENSMUST00000182905]
|
| AlphaFold |
Q3UPH7 |
| Predicted Effect |
probably benign
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000182019
|
| 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 |
probably benign
Transcript: ENSMUST00000182412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182644
|
| 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: 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 |
probably benign
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000183167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182961
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
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 |
|
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 |
|
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'- CCTTAACTCTATCTCTGTATGTGGG -3'
(R):5'- GATTATCTGTCGCTTAAGGTTTCAG -3'
Sequencing Primer
(F):5'- TTTCAGGAAGTGGCAAGGCTATG -3'
(R):5'- GTCGCTTAAGGTTTCAGACGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation