Incidental Mutation 'R3700:Arhgap28'
ID |
269979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap28
|
Ensembl Gene |
ENSMUSG00000024043 |
Gene Name |
Rho GTPase activating protein 28 |
Synonyms |
|
MMRRC Submission |
040693-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3700 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68208361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 36
(S36G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
AlphaFold |
Q8BN58 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024840
AA Change: S86G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000024840 Gene: ENSMUSG00000024043 AA Change: S86G
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: S36G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000130960 Gene: ENSMUSG00000024043 AA Change: S36G
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: S36G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128194 Gene: ENSMUSG00000024043 AA Change: S36G
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 |
|
Meta Mutation Damage Score |
0.0675 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (51/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
G |
A |
18: 65,438,222 (GRCm39) |
T1524I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arhgap26 |
T |
A |
18: 39,253,237 (GRCm39) |
F221L |
probably damaging |
Het |
Bcl11a |
A |
G |
11: 24,113,890 (GRCm39) |
D411G |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
Coro6 |
T |
C |
11: 77,358,129 (GRCm39) |
F238S |
probably damaging |
Het |
Ddah1 |
G |
A |
3: 145,597,250 (GRCm39) |
M162I |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,387,937 (GRCm39) |
I3132T |
possibly damaging |
Het |
Drgx |
A |
T |
14: 32,350,818 (GRCm39) |
E218V |
probably damaging |
Het |
Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
Eif3f |
A |
T |
7: 108,539,482 (GRCm39) |
I251F |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,550,673 (GRCm39) |
F11L |
probably benign |
Het |
Esp1 |
T |
C |
17: 41,041,998 (GRCm39) |
S97P |
unknown |
Het |
Fbxw10 |
A |
T |
11: 62,759,983 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,440 (GRCm39) |
T85A |
possibly damaging |
Het |
Idh2 |
T |
C |
7: 79,748,895 (GRCm39) |
K129E |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,865 (GRCm39) |
I64T |
probably damaging |
Het |
Klk1b5 |
T |
A |
7: 43,500,251 (GRCm39) |
C280S |
probably damaging |
Het |
Lhx2 |
T |
A |
2: 38,250,111 (GRCm39) |
L269H |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,653,185 (GRCm39) |
|
probably null |
Het |
Lss |
T |
A |
10: 76,382,026 (GRCm39) |
L484Q |
probably damaging |
Het |
Mmp14 |
G |
A |
14: 54,669,389 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
G |
7: 141,400,986 (GRCm39) |
T534A |
unknown |
Het |
Mysm1 |
T |
C |
4: 94,858,889 (GRCm39) |
K87E |
probably benign |
Het |
Or6d13 |
T |
A |
6: 116,517,489 (GRCm39) |
V25E |
probably benign |
Het |
Or6f2 |
C |
G |
7: 139,756,127 (GRCm39) |
F37L |
possibly damaging |
Het |
Pcolce |
T |
C |
5: 137,607,309 (GRCm39) |
T61A |
probably damaging |
Het |
Phc3 |
C |
A |
3: 30,968,277 (GRCm39) |
D920Y |
probably damaging |
Het |
Pi4kb |
T |
C |
3: 94,901,599 (GRCm39) |
I422T |
probably benign |
Het |
Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,693,781 (GRCm39) |
F768Y |
probably damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,889,882 (GRCm39) |
S709P |
possibly damaging |
Het |
Prdx6 |
T |
C |
1: 161,074,858 (GRCm39) |
D74G |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,008,060 (GRCm39) |
F307L |
possibly damaging |
Het |
Skic2 |
T |
C |
17: 35,068,879 (GRCm39) |
E40G |
probably benign |
Het |
Snapin |
G |
A |
3: 90,397,499 (GRCm39) |
R91* |
probably null |
Het |
Sort1 |
T |
A |
3: 108,263,955 (GRCm39) |
L838* |
probably null |
Het |
Sstr4 |
A |
G |
2: 148,238,273 (GRCm39) |
I295V |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,222,462 (GRCm39) |
I201F |
probably damaging |
Het |
Tasp1 |
T |
C |
2: 139,752,474 (GRCm39) |
T322A |
probably benign |
Het |
Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
Tlr9 |
G |
A |
9: 106,101,278 (GRCm39) |
V190M |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,858,324 (GRCm39) |
L755P |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,811,976 (GRCm39) |
T60M |
possibly damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,287 (GRCm39) |
N293S |
probably benign |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Vmn2r111 |
C |
T |
17: 22,790,142 (GRCm39) |
W288* |
probably null |
Het |
Vmn2r118 |
T |
C |
17: 55,915,421 (GRCm39) |
S510G |
possibly damaging |
Het |
Zgpat |
T |
A |
2: 181,007,439 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
G |
T |
11: 72,777,598 (GRCm39) |
G1810C |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCCAGTCTGTTTGAAG -3'
(R):5'- CACAGGCACCCAGTTTCATTC -3'
Sequencing Primer
(F):5'- GCCCAGTCTGTTTGAAGAAAAAG -3'
(R):5'- GGCACCCAGTTTCATTCAAATG -3'
|
Posted On |
2015-03-18 |