Incidental Mutation 'IGL02403:Arhgap28'
| ID |
291974 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 68180154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 81
(D81A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
| AlphaFold |
Q8BN58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024840
AA Change: D277A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: D277A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
RhoGAP
|
400 |
578 |
1.41e-34 |
SMART |
|
Blast:RhoGAP
|
583 |
612 |
2e-7 |
BLAST |
|
Blast:RhoGAP
|
640 |
681 |
9e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163865
AA Change: D227A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: D227A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
RhoGAP
|
350 |
527 |
7.1e-31 |
SMART |
|
Blast:RhoGAP
|
532 |
561 |
1e-7 |
BLAST |
|
Blast:RhoGAP
|
589 |
630 |
8e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164647
AA Change: D227A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: D227A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
RhoGAP
|
350 |
528 |
1.41e-34 |
SMART |
|
Blast:RhoGAP
|
533 |
562 |
1e-7 |
BLAST |
|
Blast:RhoGAP
|
590 |
631 |
8e-6 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170581
AA Change: D81A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043
AA Change: D81A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
151 |
213 |
1e-33 |
BLAST |
|
SCOP:d1tx4a_
|
182 |
235 |
1e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170813
|
| SMART Domains |
Protein: ENSMUSP00000132087
Gene: ENSMUSG00000024043
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
87 |
208 |
7.57e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal bone length and ossification. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
| Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,236,727 (GRCm39) |
D446G |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,382,185 (GRCm39) |
E451G |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,658,421 (GRCm39) |
T216S |
possibly damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
| Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
| Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
| Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
| Fdxacb1 |
T |
A |
9: 50,682,863 (GRCm39) |
S275R |
possibly damaging |
Het |
| Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
| Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
| Irf2 |
G |
T |
8: 47,299,207 (GRCm39) |
V334F |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
| Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
| Nek4 |
G |
T |
14: 30,686,008 (GRCm39) |
E314* |
probably null |
Het |
| Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
| Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
| Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
| Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
probably damaging |
Het |
|
| Other mutations in Arhgap28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Arhgap28
|
APN |
17 |
68,152,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01388:Arhgap28
|
APN |
17 |
68,160,034 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01560:Arhgap28
|
APN |
17 |
68,203,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01578:Arhgap28
|
APN |
17 |
68,165,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01650:Arhgap28
|
APN |
17 |
68,180,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02383:Arhgap28
|
APN |
17 |
68,203,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02652:Arhgap28
|
APN |
17 |
68,191,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Arhgap28
|
APN |
17 |
68,203,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Arhgap28
|
APN |
17 |
68,175,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Arhgap28
|
APN |
17 |
68,159,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Arhgap28
|
UTSW |
17 |
68,311,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4445001:Arhgap28
|
UTSW |
17 |
68,203,230 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0135:Arhgap28
|
UTSW |
17 |
68,171,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Arhgap28
|
UTSW |
17 |
68,208,424 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0385:Arhgap28
|
UTSW |
17 |
68,171,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Arhgap28
|
UTSW |
17 |
68,203,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Arhgap28
|
UTSW |
17 |
68,203,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Arhgap28
|
UTSW |
17 |
68,203,108 (GRCm39) |
splice site |
probably null |
|
|
R0691:Arhgap28
|
UTSW |
17 |
68,203,159 (GRCm39) |
splice site |
probably null |
|
|
R0811:Arhgap28
|
UTSW |
17 |
68,208,294 (GRCm39) |
small deletion |
probably benign |
|
|
R1150:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1151:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1152:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1426:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Arhgap28
|
UTSW |
17 |
68,156,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1747:Arhgap28
|
UTSW |
17 |
68,208,304 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1951:Arhgap28
|
UTSW |
17 |
68,208,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2031:Arhgap28
|
UTSW |
17 |
68,203,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Arhgap28
|
UTSW |
17 |
68,176,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2181:Arhgap28
|
UTSW |
17 |
68,203,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Arhgap28
|
UTSW |
17 |
68,208,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Arhgap28
|
UTSW |
17 |
68,180,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Arhgap28
|
UTSW |
17 |
68,203,088 (GRCm39) |
missense |
probably benign |
|
|
R4213:Arhgap28
|
UTSW |
17 |
68,178,988 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4347:Arhgap28
|
UTSW |
17 |
68,180,137 (GRCm39) |
missense |
probably benign |
|
|
R4954:Arhgap28
|
UTSW |
17 |
68,176,008 (GRCm39) |
nonsense |
probably null |
|
|
R5592:Arhgap28
|
UTSW |
17 |
68,165,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5610:Arhgap28
|
UTSW |
17 |
68,203,235 (GRCm39) |
nonsense |
probably null |
|
|
R5758:Arhgap28
|
UTSW |
17 |
68,180,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5774:Arhgap28
|
UTSW |
17 |
68,188,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6413:Arhgap28
|
UTSW |
17 |
68,182,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6661:Arhgap28
|
UTSW |
17 |
68,152,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Arhgap28
|
UTSW |
17 |
68,159,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7324:Arhgap28
|
UTSW |
17 |
68,202,879 (GRCm39) |
splice site |
probably null |
|
|
R7338:Arhgap28
|
UTSW |
17 |
68,203,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Arhgap28
|
UTSW |
17 |
68,178,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Arhgap28
|
UTSW |
17 |
68,208,277 (GRCm39) |
nonsense |
probably null |
|
|
R8516:Arhgap28
|
UTSW |
17 |
68,180,068 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9210:Arhgap28
|
UTSW |
17 |
68,162,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9212:Arhgap28
|
UTSW |
17 |
68,162,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9779:Arhgap28
|
UTSW |
17 |
68,152,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Arhgap28
|
UTSW |
17 |
68,168,272 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2015-04-16 |
Incidental Mutation