Incidental Mutation 'R6413:Arhgap28'
| ID |
514833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| MMRRC Submission |
044555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6413 (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 68182583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 270
(Q270R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
| AlphaFold |
Q8BN58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024840
AA Change: Q270R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: Q270R
| 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: Q220R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: Q220R
| 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: Q220R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: Q220R
| 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 |
unknown
Transcript: ENSMUST00000170581
AA Change: Q74R
|
| SMART Domains |
Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043
AA Change: Q74R
| 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 |
|
| Meta Mutation Damage Score |
0.0642 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
| Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,129 (GRCm39) |
K805R |
probably damaging |
Het |
| Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,572,973 (GRCm39) |
P373S |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
| E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,607,181 (GRCm39) |
F496L |
probably benign |
Het |
| Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
| Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
| Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
| Rpa2 |
G |
T |
4: 132,501,156 (GRCm39) |
A118S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,963,387 (GRCm39) |
F388S |
probably benign |
Het |
| Spmip6 |
A |
T |
4: 41,505,135 (GRCm39) |
V196D |
possibly damaging |
Het |
| Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
| Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
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 |
|
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 |
|
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'- CCCAGTCAGTGTTCAAAGTGG -3'
(R):5'- AACCATTTGTGAGACCAAGAACTG -3'
Sequencing Primer
(F):5'- CCAGTCAGTGTTCAAAGTGGATGTG -3'
(R):5'- GTGAGACCAAGAACTGTATTTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation