Incidental Mutation 'IGL02636:Arhgef40'
| ID |
301518 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52222176-52243708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52234865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1056
(V1056E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093813]
[ENSMUST00000100639]
[ENSMUST00000182061]
[ENSMUST00000182909]
[ENSMUST00000182760]
[ENSMUST00000182905]
[ENSMUST00000183208]
|
| AlphaFold |
Q3UPH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093813
AA Change: V1056E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: V1056E
| 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: V1056E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: V1056E
| 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 damaging
Transcript: ENSMUST00000182061
AA Change: V1056E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: V1056E
| 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 damaging
Transcript: ENSMUST00000182909
AA Change: V1056E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: V1056E
| 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 damaging
Transcript: ENSMUST00000182760
AA Change: V1065E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: V1065E
| 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: ENSMUST00000182905
AA Change: V1056E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: V1056E
| 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: ENSMUST00000183022
|
| 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: ENSMUST00000182667
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
| Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
| Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
| Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
| Htr5a |
T |
C |
5: 28,047,658 (GRCm39) |
F71S |
probably damaging |
Het |
| Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
| Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
| Klrb1c |
C |
A |
6: 128,765,515 (GRCm39) |
C25F |
probably benign |
Het |
| Lrguk |
C |
A |
6: 34,067,123 (GRCm39) |
T483K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
| Nfkbia |
T |
C |
12: 55,537,958 (GRCm39) |
Q165R |
possibly damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
C |
T |
11: 51,489,540 (GRCm39) |
T382I |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
| Rab26 |
T |
C |
17: 24,752,533 (GRCm39) |
S9G |
probably benign |
Het |
| Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
| Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
| Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
| Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation