Incidental Mutation 'R8516:Arhgap28'
| ID |
656178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| MMRRC Submission |
067848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68180068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 306
(R306G)
|
| 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: R306G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: R306G
| 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: R256G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: R256G
| 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: R256G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: R256G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043
AA Change: R110G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,373 (GRCm39) |
S22T |
probably benign |
Het |
| Acte1 |
T |
A |
7: 143,451,011 (GRCm39) |
I342N |
probably damaging |
Het |
| Actr8 |
G |
T |
14: 29,712,856 (GRCm39) |
A500S |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,260,780 (GRCm39) |
Y1005C |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,763,559 (GRCm39) |
Y884* |
probably null |
Het |
| Atp8a2 |
A |
C |
14: 59,928,921 (GRCm39) |
I1044M |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,747,452 (GRCm39) |
Y357C |
probably benign |
Het |
| Btd |
A |
T |
14: 31,388,824 (GRCm39) |
T182S |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,607 (GRCm39) |
R280C |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,774 (GRCm39) |
T106A |
probably damaging |
Het |
| Cldn15 |
G |
T |
5: 137,003,550 (GRCm39) |
C184F |
probably damaging |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coprs |
G |
T |
8: 13,935,065 (GRCm39) |
F163L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,492,761 (GRCm39) |
R2216* |
probably null |
Het |
| Defb7 |
A |
T |
8: 19,547,623 (GRCm39) |
I43F |
possibly damaging |
Het |
| Dpp8 |
C |
A |
9: 64,985,291 (GRCm39) |
T783K |
probably damaging |
Het |
| Eif2s1 |
G |
A |
12: 78,927,936 (GRCm39) |
G204D |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,108,576 (GRCm39) |
N56S |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 31,074,515 (GRCm39) |
R252H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,554 (GRCm39) |
L569Q |
probably damaging |
Het |
| Gpn2 |
C |
T |
4: 133,312,142 (GRCm39) |
R125C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,294 (GRCm39) |
E582G |
probably benign |
Het |
| Hadha |
A |
T |
5: 30,331,582 (GRCm39) |
V458E |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,246,893 (GRCm39) |
K4R |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,487,073 (GRCm39) |
H3356L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,318 (GRCm39) |
V3919I |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 135,003,021 (GRCm39) |
N76K |
probably damaging |
Het |
| Or52w1 |
A |
G |
7: 105,017,976 (GRCm39) |
I148V |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,963,869 (GRCm39) |
M462V |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,126,084 (GRCm39) |
M773L |
probably benign |
Het |
| Peak1 |
T |
C |
9: 56,167,284 (GRCm39) |
S215G |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,074 (GRCm39) |
M331L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,658,188 (GRCm39) |
V213A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,070,764 (GRCm39) |
H1205R |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,966,826 (GRCm39) |
M85K |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,583,529 (GRCm39) |
I212N |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,164,441 (GRCm39) |
K714R |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,384,952 (GRCm39) |
G207S |
probably benign |
Het |
| Rgs22 |
A |
G |
15: 36,010,481 (GRCm39) |
*1259Q |
probably null |
Het |
| Scn1a |
C |
T |
2: 66,156,478 (GRCm39) |
G477D |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,051,262 (GRCm39) |
E222G |
probably null |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spem2 |
T |
C |
11: 69,707,721 (GRCm39) |
R415G |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,515 (GRCm39) |
V13E |
probably damaging |
Het |
| Trim2 |
C |
T |
3: 84,115,627 (GRCm39) |
A102T |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,611 (GRCm39) |
S82P |
probably benign |
Het |
| Uba6 |
A |
C |
5: 86,275,607 (GRCm39) |
S760R |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,023,782 (GRCm39) |
F711L |
unknown |
Het |
| Utrn |
T |
A |
10: 12,362,254 (GRCm39) |
D2693V |
probably damaging |
Het |
| Vmn1r30 |
T |
G |
6: 58,412,109 (GRCm39) |
Y241S |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,875 (GRCm39) |
L598P |
probably damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,599,984 (GRCm39) |
F14Y |
probably benign |
Het |
| Wnt10b |
A |
T |
15: 98,670,761 (GRCm39) |
C256S |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,930,444 (GRCm39) |
Y1554* |
probably null |
Het |
| Zc3h12a |
T |
A |
4: 125,013,632 (GRCm39) |
S411C |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,823,389 (GRCm39) |
G63E |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,797,477 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,493,419 (GRCm39) |
Y75F |
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 |
|
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 |
|
|
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 |
|
|
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'- ATATCCCAGGAGACACACGG -3'
(R):5'- AGTCAGCTAGGCTCTGTTCC -3'
Sequencing Primer
(F):5'- CAGGAGACACACGGTGCTG -3'
(R):5'- GTACCCCAGCGTACCTTGTAAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation