Incidental Mutation 'IGL02134:Arhgef39'
| ID |
281252 |
| 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: 0.110)
|
| Stock # |
IGL02134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43496142-43499695 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1657 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 43497578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030181]
[ENSMUST00000054538]
[ENSMUST00000107922]
|
| AlphaFold |
Q66JY6 |
| Predicted Effect |
probably null
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 benign
Transcript: ENSMUST00000054538
|
| SMART Domains |
Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
26 |
196 |
4.92e-31 |
SMART |
|
PH
|
228 |
333 |
5.71e-9 |
SMART |
|
| Predicted Effect |
probably null
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: ENSMUST00000127324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156058
|
| Predicted Effect |
probably benign
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: ENSMUST00000226420
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,460,214 (GRCm39) |
F514L |
probably benign |
Het |
| Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
| Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
| Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
| Fgd3 |
G |
A |
13: 49,450,225 (GRCm39) |
S8L |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
| Itpkc |
G |
A |
7: 26,927,300 (GRCm39) |
Q205* |
probably null |
Het |
| Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
| Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
| Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
| Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
| Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
| Rapgef4 |
A |
C |
2: 72,010,405 (GRCm39) |
Q177P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,070,536 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
| Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
| Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
| Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
| Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,758 (GRCm39) |
L78P |
probably damaging |
Het |
| Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
probably benign |
Het |
|
| Other mutations in Arhgef39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Arhgef39
|
APN |
4 |
43,499,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01674:Arhgef39
|
APN |
4 |
43,497,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-04-16 |
Incidental Mutation