Incidental Mutation 'R7338:Arhgap28'
ID |
569673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap28
|
Ensembl Gene |
ENSMUSG00000024043 |
Gene Name |
Rho GTPase activating protein 28 |
Synonyms |
|
MMRRC Submission |
045428-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7338 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68203106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 166
(R166G)
|
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: R166G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024840 Gene: ENSMUSG00000024043 AA Change: R166G
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: R116G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130960 Gene: ENSMUSG00000024043 AA Change: R116G
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: R116G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128194 Gene: ENSMUSG00000024043 AA Change: R116G
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 |
|
Meta Mutation Damage Score |
0.3561 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (54/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
Bcan |
T |
A |
3: 87,901,550 (GRCm39) |
E384V |
probably damaging |
Het |
Bcl9l |
A |
G |
9: 44,420,005 (GRCm39) |
N1137S |
probably benign |
Het |
Caprin1 |
A |
G |
2: 103,609,768 (GRCm39) |
L170S |
probably benign |
Het |
Card6 |
C |
T |
15: 5,129,354 (GRCm39) |
E681K |
probably benign |
Het |
Catsperb |
G |
A |
12: 101,447,243 (GRCm39) |
V248I |
probably benign |
Het |
Ccnj |
T |
A |
19: 40,825,477 (GRCm39) |
H62Q |
probably damaging |
Het |
Cd180 |
A |
C |
13: 102,842,936 (GRCm39) |
I661L |
probably benign |
Het |
Cdk11b |
A |
G |
4: 155,732,008 (GRCm39) |
R473G |
unknown |
Het |
Cep126 |
T |
C |
9: 8,099,799 (GRCm39) |
T912A |
possibly damaging |
Het |
Chek2 |
T |
A |
5: 111,021,380 (GRCm39) |
V530E |
probably benign |
Het |
Chga |
G |
T |
12: 102,529,100 (GRCm39) |
S359I |
probably damaging |
Het |
Cnrip1 |
T |
C |
11: 17,004,657 (GRCm39) |
V69A |
probably damaging |
Het |
Cyp2a5 |
A |
T |
7: 26,542,372 (GRCm39) |
Q458L |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,195,524 (GRCm39) |
T391S |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,199,036 (GRCm39) |
L794P |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,585,802 (GRCm39) |
T580A |
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,464,982 (GRCm39) |
I184L |
probably benign |
Het |
Gabra1 |
C |
T |
11: 42,073,121 (GRCm39) |
G51S |
unknown |
Het |
Gabrr3 |
C |
A |
16: 59,268,439 (GRCm39) |
L351I |
possibly damaging |
Het |
Gbp7 |
A |
T |
3: 142,243,786 (GRCm39) |
N111I |
probably damaging |
Het |
Gjd2 |
C |
T |
2: 113,841,583 (GRCm39) |
R298H |
probably damaging |
Het |
Gm5930 |
T |
C |
14: 44,573,914 (GRCm39) |
Y141C |
probably damaging |
Het |
Grin3a |
G |
T |
4: 49,771,238 (GRCm39) |
N511K |
probably benign |
Het |
Hdac7 |
T |
C |
15: 97,707,903 (GRCm39) |
D122G |
probably benign |
Het |
Ifi204 |
G |
A |
1: 173,587,703 (GRCm39) |
T152I |
possibly damaging |
Het |
Lrrc9 |
C |
T |
12: 72,510,305 (GRCm39) |
|
probably null |
Het |
Med21 |
T |
A |
6: 146,544,082 (GRCm39) |
|
probably benign |
Het |
Mmp19 |
A |
T |
10: 128,634,952 (GRCm39) |
T523S |
probably benign |
Het |
Nav3 |
G |
A |
10: 109,605,073 (GRCm39) |
T1000I |
probably benign |
Het |
Nherf2 |
T |
A |
17: 24,869,182 (GRCm39) |
|
probably benign |
Het |
Nin |
T |
C |
12: 70,090,838 (GRCm39) |
D859G |
|
Het |
Nip7 |
T |
G |
8: 107,783,916 (GRCm39) |
L52R |
possibly damaging |
Het |
Or10d1c |
A |
G |
9: 38,893,816 (GRCm39) |
Y175H |
probably damaging |
Het |
Or5al5 |
A |
T |
2: 85,961,726 (GRCm39) |
F94I |
probably damaging |
Het |
Or6b13 |
A |
T |
7: 139,782,446 (GRCm39) |
V79E |
probably benign |
Het |
Otop1 |
T |
A |
5: 38,457,547 (GRCm39) |
Y435* |
probably null |
Het |
Pak4 |
A |
G |
7: 28,264,381 (GRCm39) |
S174P |
probably benign |
Het |
Pcsk7 |
G |
A |
9: 45,837,287 (GRCm39) |
R537Q |
probably benign |
Het |
Podxl |
G |
A |
6: 31,505,941 (GRCm39) |
S34F |
unknown |
Het |
Prr36 |
G |
A |
8: 4,266,212 (GRCm39) |
R113C |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,890,525 (GRCm39) |
I436V |
probably benign |
Het |
Slc13a5 |
C |
T |
11: 72,157,310 (GRCm39) |
V28I |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,349,097 (GRCm39) |
D56V |
probably benign |
Het |
Spg11 |
G |
A |
2: 121,885,858 (GRCm39) |
R2317W |
probably damaging |
Het |
Stom |
T |
A |
2: 35,213,760 (GRCm39) |
|
probably null |
Het |
Svs5 |
T |
C |
2: 164,174,728 (GRCm39) |
L8P |
possibly damaging |
Het |
Tmem141 |
C |
A |
2: 25,511,626 (GRCm39) |
V39F |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,344,019 (GRCm39) |
L181P |
probably damaging |
Het |
Tnni3 |
A |
G |
7: 4,524,379 (GRCm39) |
S40P |
probably benign |
Het |
Tubgcp4 |
A |
G |
2: 121,024,465 (GRCm39) |
I548V |
probably benign |
Het |
Twf2 |
A |
G |
9: 106,081,138 (GRCm39) |
|
probably benign |
Het |
Wnt5b |
C |
A |
6: 119,425,092 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
Yipf4 |
T |
G |
17: 74,796,771 (GRCm39) |
S21A |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,481,943 (GRCm39) |
M573T |
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 |
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 |
|
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'- TCAGAGTGTAGGATGCTTCAGAC -3'
(R):5'- AACCTGCCTTGTTCACACTG -3'
Sequencing Primer
(F):5'- AGCTTCCTCCGAGAGTTAACATGG -3'
(R):5'- GTTCACACTGTTTCCCAGAAGG -3'
|
Posted On |
2019-09-13 |