Incidental Mutation 'IGL03209:Arhgap28'
ID |
413218 |
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 # |
IGL03209
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 68175951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 383
(V383I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
AlphaFold |
Q8BN58 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024840
AA Change: V433I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024840 Gene: ENSMUSG00000024043 AA Change: V433I
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 damaging
Transcript: ENSMUST00000163865
AA Change: V383I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130960 Gene: ENSMUSG00000024043 AA Change: V383I
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 damaging
Transcript: ENSMUST00000164647
AA Change: V383I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128194 Gene: ENSMUSG00000024043 AA Change: V383I
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 |
probably benign
Transcript: ENSMUST00000170581
|
SMART Domains |
Protein: ENSMUSP00000131903 Gene: ENSMUSG00000024043
Domain | Start | End | E-Value | Type |
Blast:RhoGAP
|
151 |
213 |
1e-33 |
BLAST |
SCOP:d1tx4a_
|
182 |
235 |
1e-10 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000170813
AA Change: V119I
|
SMART Domains |
Protein: ENSMUSP00000132087 Gene: ENSMUSG00000024043 AA Change: V119I
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
C |
T |
2: 26,882,973 (GRCm39) |
A841V |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,576,955 (GRCm39) |
|
probably benign |
Het |
Arc |
A |
T |
15: 74,543,833 (GRCm39) |
L130Q |
probably damaging |
Het |
Atf6 |
T |
C |
1: 170,662,463 (GRCm39) |
S266G |
probably benign |
Het |
Cd59b |
A |
G |
2: 103,914,905 (GRCm39) |
E101G |
probably benign |
Het |
Cdc26 |
T |
C |
4: 62,313,251 (GRCm39) |
K30R |
possibly damaging |
Het |
Clns1a |
A |
G |
7: 97,360,937 (GRCm39) |
D103G |
probably null |
Het |
Crispld2 |
C |
A |
8: 120,757,837 (GRCm39) |
A394E |
possibly damaging |
Het |
Cyp51 |
A |
T |
5: 4,154,195 (GRCm39) |
L38H |
probably damaging |
Het |
Dnah7a |
T |
G |
1: 53,725,773 (GRCm39) |
|
probably benign |
Het |
Fbxw2 |
T |
C |
2: 34,712,675 (GRCm39) |
R129G |
probably damaging |
Het |
Fgd3 |
T |
C |
13: 49,439,294 (GRCm39) |
Q234R |
probably damaging |
Het |
Gdpgp1 |
A |
G |
7: 79,888,847 (GRCm39) |
T293A |
probably damaging |
Het |
Hspa12a |
T |
G |
19: 58,810,493 (GRCm39) |
|
probably null |
Het |
Ier5l |
G |
T |
2: 30,363,067 (GRCm39) |
D319E |
possibly damaging |
Het |
Iigp1c |
T |
A |
18: 60,379,143 (GRCm39) |
I226N |
probably damaging |
Het |
Ikzf1 |
T |
C |
11: 11,650,226 (GRCm39) |
V3A |
probably benign |
Het |
Itga2 |
T |
C |
13: 115,017,168 (GRCm39) |
N180D |
probably damaging |
Het |
Lipt1 |
T |
C |
1: 37,914,150 (GRCm39) |
S69P |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,022,565 (GRCm39) |
I734V |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,049,114 (GRCm39) |
T871A |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,203,896 (GRCm39) |
C129S |
probably damaging |
Het |
Neb |
A |
T |
2: 52,180,831 (GRCm39) |
F1232I |
probably damaging |
Het |
Ngly1 |
T |
A |
14: 16,281,831 (GRCm38) |
Y362* |
probably null |
Het |
Or2h2c |
A |
T |
17: 37,422,413 (GRCm39) |
S154T |
probably benign |
Het |
Or5ak23 |
A |
T |
2: 85,244,723 (GRCm39) |
S167T |
probably benign |
Het |
Patj |
A |
G |
4: 98,353,377 (GRCm39) |
D640G |
probably null |
Het |
Plxnd1 |
A |
T |
6: 115,939,318 (GRCm39) |
M1502K |
probably damaging |
Het |
Sccpdh |
T |
C |
1: 179,514,238 (GRCm39) |
V429A |
possibly damaging |
Het |
Slc25a48 |
T |
C |
13: 56,618,272 (GRCm39) |
V303A |
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,959,897 (GRCm39) |
D212G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,078,160 (GRCm39) |
|
probably benign |
Het |
Tmem65 |
A |
G |
15: 58,656,751 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,002,740 (GRCm39) |
|
probably null |
Het |
Trim36 |
T |
C |
18: 46,300,575 (GRCm39) |
T687A |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,239,351 (GRCm39) |
D3471E |
probably damaging |
Het |
Urgcp |
T |
C |
11: 5,667,238 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
A |
T |
3: 5,466,231 (GRCm39) |
I2155F |
probably damaging |
Het |
Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
probably benign |
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 |
IGL02403:Arhgap28
|
APN |
17 |
68,180,154 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
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 |
2016-08-02 |