Incidental Mutation 'R0412:Arhgap28'
| ID |
36741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| MMRRC Submission |
038614-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0412 (G1)
|
| Quality Score |
90 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68203253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 67
(L67F)
|
| 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: L117F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: L117F
| 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: L67F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: L67F
| 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: L67F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: L67F
| 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 |
0.1855 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.2%
|
| Validation Efficiency |
94% (67/71) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
A |
7: 101,039,429 (GRCm39) |
A563D |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,485,675 (GRCm39) |
|
probably null |
Het |
| Auts2 |
A |
G |
5: 131,475,669 (GRCm39) |
F485L |
probably benign |
Het |
| Ccdc68 |
A |
G |
18: 70,093,510 (GRCm39) |
E239G |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,363,487 (GRCm39) |
L449R |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Ddx41 |
G |
T |
13: 55,678,421 (GRCm39) |
S630Y |
probably damaging |
Het |
| Dntt |
T |
C |
19: 41,031,372 (GRCm39) |
L274P |
probably damaging |
Het |
| Fhl4 |
G |
T |
10: 84,934,680 (GRCm39) |
H34N |
possibly damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,571 (GRCm39) |
N349K |
possibly damaging |
Het |
| Gm9894 |
C |
T |
13: 67,913,145 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
A |
G |
11: 97,229,633 (GRCm39) |
S841P |
probably damaging |
Het |
| Gpr35 |
G |
T |
1: 92,910,506 (GRCm39) |
V73L |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,713,099 (GRCm39) |
V809A |
possibly damaging |
Het |
| H2-T13 |
T |
A |
17: 36,392,413 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,128,283 (GRCm39) |
T451A |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,278,259 (GRCm39) |
V1654M |
probably damaging |
Het |
| Htra3 |
G |
T |
5: 35,828,409 (GRCm39) |
A157E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,902,835 (GRCm39) |
V2405D |
probably damaging |
Het |
| Irs3 |
C |
A |
5: 137,642,139 (GRCm39) |
R433L |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,825,224 (GRCm39) |
Q239* |
probably null |
Het |
| Kcnk9 |
A |
G |
15: 72,384,905 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,530,091 (GRCm39) |
V622A |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,031,294 (GRCm39) |
I164F |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,066,621 (GRCm39) |
S1087P |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,119,948 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,135,677 (GRCm39) |
T367A |
probably damaging |
Het |
| Mphosph8 |
A |
C |
14: 56,911,870 (GRCm39) |
K298Q |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
| Mst1 |
A |
C |
9: 107,960,793 (GRCm39) |
D461A |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,373,079 (GRCm39) |
S311C |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,594 (GRCm39) |
V78E |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,422 (GRCm39) |
M75L |
probably benign |
Het |
| Or5m9b |
C |
T |
2: 85,905,435 (GRCm39) |
A117V |
probably benign |
Het |
| Or8c11 |
A |
C |
9: 38,290,090 (GRCm39) |
K298N |
probably damaging |
Het |
| Pde3a |
T |
G |
6: 141,444,410 (GRCm39) |
C1073G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,188,012 (GRCm39) |
D3432G |
probably damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,448,932 (GRCm39) |
P130Q |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,645,213 (GRCm39) |
I228T |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,480 (GRCm39) |
N349S |
probably benign |
Het |
| Ranbp6 |
C |
T |
19: 29,789,483 (GRCm39) |
V290I |
possibly damaging |
Het |
| Rcan3 |
A |
T |
4: 135,143,914 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
C |
15: 100,906,187 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
C |
T |
2: 164,835,982 (GRCm39) |
T900M |
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,585,714 (GRCm39) |
Y55C |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,421,444 (GRCm39) |
E450* |
probably null |
Het |
| Tbrg4 |
T |
C |
11: 6,573,832 (GRCm39) |
K130R |
probably benign |
Het |
| Tgm7 |
C |
A |
2: 120,931,546 (GRCm39) |
V206F |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,938,955 (GRCm39) |
D67G |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,472 (GRCm39) |
K409R |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,590,096 (GRCm39) |
|
probably benign |
Het |
| Vmn1r171 |
C |
T |
7: 23,332,080 (GRCm39) |
L102F |
possibly damaging |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,916 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
A |
G |
9: 37,453,986 (GRCm39) |
R191G |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,232 (GRCm39) |
Q153H |
probably benign |
Het |
| Wdr87-ps |
C |
G |
7: 29,229,995 (GRCm39) |
|
noncoding transcript |
Het |
| Xxylt1 |
T |
A |
16: 30,826,616 (GRCm39) |
N233I |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,247,139 (GRCm39) |
E563V |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,315,323 (GRCm39) |
E71D |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,816,099 (GRCm39) |
D862G |
possibly damaging |
Het |
| Zfp639 |
A |
C |
3: 32,571,259 (GRCm39) |
Q47P |
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 |
|
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 |
|
|
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'- CATACAGGAGATTCGCTGACTCCG -3'
(R):5'- TCCTGGGCAGCCTTTTATGACTTTG -3'
Sequencing Primer
(F):5'- ATTCGCTGACTCCGAAGATG -3'
(R):5'- ttggaggtagaggcaggaag -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation