Incidental Mutation 'R6661:Arhgap28'
| ID |
526858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| MMRRC Submission |
044781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 68152746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 675
(W675L)
|
| 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: W725L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: W725L
| 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: W674L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: W674L
| 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: W675L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: W675L
| 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 |
noncoding transcript
Transcript: ENSMUST00000166414
|
| Meta Mutation Damage Score |
0.6738 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (38/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amy2a1 |
T |
C |
3: 113,325,363 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ankrd9 |
C |
A |
12: 110,944,202 (GRCm39) |
|
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,900,834 (GRCm39) |
S595P |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,864 (GRCm39) |
H741Q |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 29,811,832 (GRCm39) |
D1273Y |
probably damaging |
Het |
| Ccr4 |
T |
C |
9: 114,325,031 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,135 (GRCm39) |
V2468A |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,140,230 (GRCm39) |
E666G |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,439,986 (GRCm39) |
V775L |
probably damaging |
Het |
| Cux2 |
C |
A |
5: 122,007,360 (GRCm39) |
R767L |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,302,561 (GRCm39) |
L217S |
possibly damaging |
Het |
| Dennd4c |
T |
A |
4: 86,717,626 (GRCm39) |
M541K |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,662,609 (GRCm39) |
R651G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,525,963 (GRCm39) |
F80I |
probably damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,998,297 (GRCm39) |
P554Q |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,618,450 (GRCm39) |
D308N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,559,726 (GRCm39) |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,675,256 (GRCm39) |
G1006D |
probably damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,398 (GRCm39) |
Y289H |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,922 (GRCm39) |
F121S |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,362,633 (GRCm39) |
T299I |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,920,289 (GRCm39) |
N109S |
probably benign |
Het |
| Mbd4 |
C |
A |
6: 115,826,116 (GRCm39) |
E271* |
probably null |
Het |
| Meis2 |
T |
A |
2: 115,694,751 (GRCm39) |
D457V |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,067,547 (GRCm39) |
V604A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,593,377 (GRCm39) |
V150E |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,884,243 (GRCm39) |
E790G |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,492 (GRCm39) |
N128S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,967,993 (GRCm39) |
I834V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,367 (GRCm39) |
C666R |
possibly damaging |
Het |
| Prg2 |
T |
C |
2: 84,813,620 (GRCm39) |
|
probably null |
Het |
| Selenbp2 |
A |
G |
3: 94,609,821 (GRCm39) |
D257G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,191,964 (GRCm39) |
R957G |
probably damaging |
Het |
| Smim10l1 |
T |
A |
6: 133,082,513 (GRCm39) |
M46K |
possibly damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,902,856 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,928,652 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,385,842 (GRCm39) |
E234G |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,060,556 (GRCm39) |
V181A |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,461,993 (GRCm39) |
S1091P |
possibly damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,134 (GRCm39) |
C143* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,843,305 (GRCm39) |
C314Y |
unknown |
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 |
|
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'- GTGCTTCTCAATGAGCAACGC -3'
(R):5'- TCTCTCTGATTGACCCTGGG -3'
Sequencing Primer
(F):5'- ACCGTCTCATGAGGAACTGTG -3'
(R):5'- CTGATTGACCCTGGGGATAGAGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation