Incidental Mutation 'IGL01014:Arhgef39'
| ID |
53523 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgef39
|
| Ensembl Gene |
ENSMUSG00000051517 |
| Gene Name |
Rho guanine nucleotide exchange factor 39 |
| Synonyms |
E130306D19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL01014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43496142-43499695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43499502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 36
(R36C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030181]
[ENSMUST00000054538]
[ENSMUST00000107922]
|
| AlphaFold |
Q66JY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030181
|
| SMART Domains |
Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054538
AA Change: R36C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517
AA Change: R36C
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
26 |
196 |
4.92e-31 |
SMART |
|
PH
|
228 |
333 |
5.71e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107922
|
| SMART Domains |
Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129378
|
| Predicted Effect |
silent
Transcript: ENSMUST00000136005
|
| SMART Domains |
Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
53 |
153 |
2.5e-18 |
PFAM |
|
PH
|
154 |
256 |
1.97e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154905
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152134
|
| SMART Domains |
Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
2 |
82 |
7e-38 |
BLAST |
|
SCOP:d1kz7a2
|
2 |
88 |
4e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,455,576 (GRCm39) |
M401I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,455,577 (GRCm39) |
H402Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
| Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
| Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ccdc74a |
A |
T |
16: 17,467,661 (GRCm39) |
T200S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,856 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
| Dhx15 |
A |
T |
5: 52,309,266 (GRCm39) |
V719D |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
| Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
| Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
| Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
| Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
| Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
| Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
| Pgap6 |
T |
A |
17: 26,335,983 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,554,830 (GRCm39) |
R130Q |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
| Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
probably benign |
Het |
|
| Other mutations in Arhgef39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Arhgef39
|
APN |
4 |
43,497,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02134:Arhgef39
|
APN |
4 |
43,497,578 (GRCm39) |
splice site |
probably null |
|
|
kidd
|
UTSW |
4 |
43,498,913 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
teach
|
UTSW |
4 |
43,498,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Arhgef39
|
UTSW |
4 |
43,498,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Arhgef39
|
UTSW |
4 |
43,496,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1110:Arhgef39
|
UTSW |
4 |
43,496,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1957:Arhgef39
|
UTSW |
4 |
43,499,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Arhgef39
|
UTSW |
4 |
43,496,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3087:Arhgef39
|
UTSW |
4 |
43,497,581 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4289:Arhgef39
|
UTSW |
4 |
43,497,353 (GRCm39) |
unclassified |
probably benign |
|
|
R4426:Arhgef39
|
UTSW |
4 |
43,497,112 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6481:Arhgef39
|
UTSW |
4 |
43,498,580 (GRCm39) |
splice site |
probably null |
|
|
R7105:Arhgef39
|
UTSW |
4 |
43,498,913 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7394:Arhgef39
|
UTSW |
4 |
43,499,532 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8187:Arhgef39
|
UTSW |
4 |
43,498,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Arhgef39
|
UTSW |
4 |
43,498,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8700:Arhgef39
|
UTSW |
4 |
43,496,715 (GRCm39) |
missense |
probably benign |
|
|
R8972:Arhgef39
|
UTSW |
4 |
43,497,185 (GRCm39) |
missense |
probably benign |
|
|
R9623:Arhgef39
|
UTSW |
4 |
43,496,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation