Incidental Mutation 'IGL02983:Cdc42ep4'
| ID |
406641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdc42ep4
|
| Ensembl Gene |
ENSMUSG00000041598 |
| Gene Name |
CDC42 effector protein 4 |
| Synonyms |
Borg4, 1500041M20Rik, CEP4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
113617676-113642707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113619995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 132
(K132R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053536]
[ENSMUST00000106616]
[ENSMUST00000131488]
[ENSMUST00000153453]
|
| AlphaFold |
Q9JM96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053536
AA Change: K132R
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: K132R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:PBD
|
26 |
83 |
1e-13 |
PFAM |
|
Pfam:BORG_CEP
|
110 |
224 |
1e-35 |
PFAM |
|
low complexity region
|
280 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106616
AA Change: K132R
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: K132R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:PBD
|
26 |
83 |
2.6e-14 |
PFAM |
|
Pfam:BORG_CEP
|
110 |
219 |
1.6e-24 |
PFAM |
|
low complexity region
|
280 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131488
AA Change: K132R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598
AA Change: K132R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:PBD
|
26 |
83 |
1.1e-13 |
PFAM |
|
Pfam:BORG_CEP
|
110 |
194 |
7.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153453
|
| SMART Domains |
Protein: ENSMUSP00000120316
Gene: ENSMUSG00000041598
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:PBD
|
26 |
83 |
1.6e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired glutamate clearance and motor learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
| Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
| Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
| Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
| Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
| Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
probably benign |
Het |
|
| Other mutations in Cdc42ep4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Cdc42ep4
|
APN |
11 |
113,620,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01715:Cdc42ep4
|
APN |
11 |
113,620,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Cdc42ep4
|
APN |
11 |
113,619,830 (GRCm39) |
missense |
probably benign |
|
|
IGL02118:Cdc42ep4
|
APN |
11 |
113,619,942 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0621:Cdc42ep4
|
UTSW |
11 |
113,619,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Cdc42ep4
|
UTSW |
11 |
113,619,392 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1663:Cdc42ep4
|
UTSW |
11 |
113,620,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Cdc42ep4
|
UTSW |
11 |
113,620,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Cdc42ep4
|
UTSW |
11 |
113,619,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Cdc42ep4
|
UTSW |
11 |
113,620,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6053:Cdc42ep4
|
UTSW |
11 |
113,619,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Cdc42ep4
|
UTSW |
11 |
113,619,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7066:Cdc42ep4
|
UTSW |
11 |
113,620,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Cdc42ep4
|
UTSW |
11 |
113,619,944 (GRCm39) |
missense |
probably benign |
|
|
R7556:Cdc42ep4
|
UTSW |
11 |
113,619,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7982:Cdc42ep4
|
UTSW |
11 |
113,619,402 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8964:Cdc42ep4
|
UTSW |
11 |
113,620,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation