Incidental Mutation 'R5592:Arhgap28'
ID |
437599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap28
|
Ensembl Gene |
ENSMUSG00000024043 |
Gene Name |
Rho GTPase activating protein 28 |
Synonyms |
|
MMRRC Submission |
043144-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 68165267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 543
(M543K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
AlphaFold |
Q8BN58 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024840
AA Change: M543K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000024840 Gene: ENSMUSG00000024043 AA Change: M543K
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 |
possibly damaging
Transcript: ENSMUST00000163865
AA Change: M492K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130960 Gene: ENSMUSG00000024043 AA Change: M492K
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: M493K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128194 Gene: ENSMUSG00000024043 AA Change: M493K
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: ENSMUST00000170813
|
SMART Domains |
Protein: ENSMUSP00000132087 Gene: ENSMUSG00000024043
Domain | Start | End | E-Value | Type |
RhoGAP
|
87 |
208 |
7.57e-4 |
SMART |
|
Meta Mutation Damage Score |
0.8403 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
T |
1: 85,654,332 (GRCm39) |
F2I |
probably damaging |
Het |
Adam17 |
C |
T |
12: 21,384,138 (GRCm39) |
S454N |
probably damaging |
Het |
Adcy1 |
A |
T |
11: 7,089,088 (GRCm39) |
K501* |
probably null |
Het |
Art3 |
T |
A |
5: 92,540,679 (GRCm39) |
Y141N |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,386,064 (GRCm39) |
T60I |
possibly damaging |
Het |
Crmp1 |
A |
C |
5: 37,422,609 (GRCm39) |
I139L |
probably benign |
Het |
Cul9 |
G |
A |
17: 46,831,517 (GRCm39) |
L1566F |
probably benign |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Drd1 |
A |
T |
13: 54,208,190 (GRCm39) |
M1K |
probably null |
Het |
Flii |
T |
G |
11: 60,611,225 (GRCm39) |
M449L |
probably benign |
Het |
Galnt16 |
T |
C |
12: 80,635,293 (GRCm39) |
V343A |
probably damaging |
Het |
Gimap4 |
A |
T |
6: 48,668,092 (GRCm39) |
E154D |
probably damaging |
Het |
Glmp |
T |
G |
3: 88,233,333 (GRCm39) |
|
probably benign |
Het |
Glt1d1 |
A |
T |
5: 127,734,183 (GRCm39) |
D119V |
probably benign |
Het |
Gm5930 |
C |
T |
14: 44,568,886 (GRCm39) |
M245I |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,746,125 (GRCm39) |
H2901Q |
probably benign |
Het |
Krt12 |
C |
T |
11: 99,311,650 (GRCm39) |
V184I |
probably benign |
Het |
Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
Mier3 |
T |
A |
13: 111,843,195 (GRCm39) |
Y182* |
probably null |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Mmp25 |
A |
G |
17: 23,859,176 (GRCm39) |
V157A |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Ms4a6c |
A |
G |
19: 11,458,496 (GRCm39) |
|
probably benign |
Het |
Ms4a6c |
A |
G |
19: 11,457,641 (GRCm39) |
|
probably benign |
Het |
Muc19 |
T |
C |
15: 91,828,199 (GRCm39) |
|
noncoding transcript |
Het |
Mucl3 |
T |
C |
17: 35,954,535 (GRCm39) |
Y9C |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,432,113 (GRCm39) |
M2308I |
probably benign |
Het |
Myo1a |
G |
T |
10: 127,549,908 (GRCm39) |
V463F |
probably damaging |
Het |
Ogdh |
A |
T |
11: 6,266,763 (GRCm39) |
|
probably null |
Het |
Or52h9 |
A |
T |
7: 104,202,938 (GRCm39) |
N271Y |
probably benign |
Het |
Or5l14 |
A |
G |
2: 87,792,684 (GRCm39) |
L184P |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Paip1 |
C |
A |
13: 119,587,334 (GRCm39) |
D124E |
probably damaging |
Het |
Pdcd11 |
T |
A |
19: 47,091,164 (GRCm39) |
N379K |
probably benign |
Het |
Pitpnm2 |
T |
C |
5: 124,280,212 (GRCm39) |
E112G |
probably damaging |
Het |
Prrg4 |
T |
C |
2: 104,663,123 (GRCm39) |
Y161C |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,449,187 (GRCm39) |
Y648H |
probably damaging |
Het |
Rpa3 |
A |
T |
6: 8,257,694 (GRCm39) |
M56K |
probably benign |
Het |
Scarf1 |
A |
T |
11: 75,416,513 (GRCm39) |
T652S |
probably benign |
Het |
Slc16a5 |
A |
G |
11: 115,363,608 (GRCm39) |
K423R |
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,876,731 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
C |
2: 84,875,863 (GRCm39) |
I574T |
probably benign |
Het |
Synm |
A |
G |
7: 67,409,264 (GRCm39) |
L38P |
probably damaging |
Het |
Ubqln4 |
T |
G |
3: 88,464,171 (GRCm39) |
M224R |
probably damaging |
Het |
Uroc1 |
A |
G |
6: 90,332,326 (GRCm39) |
N561S |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,611,835 (GRCm39) |
Y483C |
probably benign |
Het |
Vps13a |
G |
A |
19: 16,702,935 (GRCm39) |
L673F |
probably damaging |
Het |
Zfp418 |
G |
T |
7: 7,184,314 (GRCm39) |
K92N |
possibly 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 |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGCTTACGCATCTCCCTG -3'
(R):5'- GGACACATTTGCTCATCCTTG -3'
Sequencing Primer
(F):5'- CTGCAGCTGGTGTCTCTCAGAG -3'
(R):5'- TGCGTACTTTCCTAGCAACACAG -3'
|
Posted On |
2016-10-26 |