Incidental Mutation 'R4695:Arhgap45'
ID |
355639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap45
|
Ensembl Gene |
ENSMUSG00000035697 |
Gene Name |
Rho GTPase activating protein 45 |
Synonyms |
6330406L22Rik, Hmha1 |
MMRRC Submission |
042016-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4695 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 79861364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 509
(D509A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043311]
[ENSMUST00000099501]
[ENSMUST00000105373]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043311
AA Change: D382A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041019 Gene: ENSMUSG00000035697 AA Change: D382A
Domain | Start | End | E-Value | Type |
low complexity region
|
142 |
153 |
N/A |
INTRINSIC |
FCH
|
157 |
244 |
4.14e-17 |
SMART |
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
low complexity region
|
330 |
345 |
N/A |
INTRINSIC |
low complexity region
|
527 |
536 |
N/A |
INTRINSIC |
C1
|
582 |
628 |
3.15e-8 |
SMART |
RhoGAP
|
653 |
852 |
2.73e-73 |
SMART |
low complexity region
|
856 |
869 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
876 |
999 |
1e-21 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099501
AA Change: D498A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097100 Gene: ENSMUSG00000035697 AA Change: D498A
Domain | Start | End | E-Value | Type |
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
FCH
|
273 |
360 |
4.14e-17 |
SMART |
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
low complexity region
|
446 |
461 |
N/A |
INTRINSIC |
low complexity region
|
643 |
652 |
N/A |
INTRINSIC |
C1
|
698 |
744 |
3.15e-8 |
SMART |
RhoGAP
|
769 |
968 |
2.73e-73 |
SMART |
low complexity region
|
972 |
985 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
992 |
1115 |
1e-21 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105373
AA Change: D509A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101012 Gene: ENSMUSG00000035697 AA Change: D509A
Domain | Start | End | E-Value | Type |
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
FCH
|
284 |
371 |
4.14e-17 |
SMART |
low complexity region
|
382 |
396 |
N/A |
INTRINSIC |
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
low complexity region
|
457 |
472 |
N/A |
INTRINSIC |
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
C1
|
709 |
755 |
3.15e-8 |
SMART |
RhoGAP
|
780 |
979 |
2.73e-73 |
SMART |
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
1003 |
1126 |
1e-21 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150022
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
T |
A |
17: 33,750,713 (GRCm39) |
M251K |
possibly damaging |
Het |
Adcy2 |
A |
T |
13: 68,875,962 (GRCm39) |
H513Q |
possibly damaging |
Het |
Afg2a |
T |
G |
3: 37,512,474 (GRCm39) |
F713C |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,580,619 (GRCm39) |
L1861P |
possibly damaging |
Het |
Apc2 |
C |
A |
10: 80,146,877 (GRCm39) |
R615S |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,351,208 (GRCm39) |
T108A |
probably benign |
Het |
Blm |
T |
A |
7: 80,143,976 (GRCm39) |
D821V |
probably damaging |
Het |
C3 |
T |
A |
17: 57,528,057 (GRCm39) |
I721L |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,649,826 (GRCm39) |
V207E |
probably damaging |
Het |
Ccndbp1 |
C |
T |
2: 120,845,208 (GRCm39) |
|
probably benign |
Het |
Cd180 |
A |
C |
13: 102,842,268 (GRCm39) |
Q438P |
probably benign |
Het |
Cd248 |
C |
T |
19: 5,118,473 (GRCm39) |
T107M |
probably damaging |
Het |
Cdan1 |
G |
A |
2: 120,558,864 (GRCm39) |
R445C |
probably damaging |
Het |
Cic |
C |
A |
7: 24,973,013 (GRCm39) |
H915N |
possibly damaging |
Het |
Cox8c |
T |
C |
12: 102,865,742 (GRCm39) |
S40P |
possibly damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,092 (GRCm39) |
C347S |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,356 (GRCm39) |
F974I |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,972,221 (GRCm39) |
T1414S |
probably benign |
Het |
Dlg2 |
C |
A |
7: 92,087,170 (GRCm39) |
|
probably null |
Het |
Dynlt5 |
T |
A |
4: 102,861,426 (GRCm39) |
I136K |
probably damaging |
Het |
Dzip1l |
T |
A |
9: 99,529,258 (GRCm39) |
M329K |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,771,924 (GRCm39) |
L582I |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,559,773 (GRCm39) |
Y1068C |
probably damaging |
Het |
Fam221b |
T |
A |
4: 43,659,622 (GRCm39) |
|
probably null |
Het |
Fbxw22 |
A |
G |
9: 109,207,939 (GRCm39) |
I444T |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,440,428 (GRCm39) |
N245K |
probably damaging |
Het |
Fnip1 |
T |
A |
11: 54,390,245 (GRCm39) |
I380N |
probably damaging |
Het |
Gbf1 |
C |
T |
19: 46,247,606 (GRCm39) |
R181* |
probably null |
Het |
Igkv6-17 |
T |
A |
6: 70,348,486 (GRCm39) |
F12I |
probably benign |
Het |
Itln1 |
C |
A |
1: 171,358,645 (GRCm39) |
G174V |
probably damaging |
Het |
Lrrc52 |
A |
G |
1: 167,293,660 (GRCm39) |
|
probably null |
Het |
LTO1 |
T |
C |
7: 144,482,715 (GRCm39) |
|
probably null |
Het |
Matn2 |
A |
G |
15: 34,403,071 (GRCm39) |
Y432C |
probably damaging |
Het |
Metap1d |
A |
G |
2: 71,355,305 (GRCm39) |
*336W |
probably null |
Het |
Mgam2-ps |
T |
A |
6: 40,779,489 (GRCm39) |
|
noncoding transcript |
Het |
Mrps9 |
T |
A |
1: 42,901,675 (GRCm39) |
V61D |
possibly damaging |
Het |
Myh7b |
T |
C |
2: 155,456,097 (GRCm39) |
Y161H |
probably damaging |
Het |
Myh9 |
T |
A |
15: 77,653,053 (GRCm39) |
D1428V |
probably damaging |
Het |
N4bp3 |
A |
T |
11: 51,535,306 (GRCm39) |
|
probably null |
Het |
Nat9 |
T |
A |
11: 115,075,416 (GRCm39) |
Q75L |
probably benign |
Het |
Nop2 |
T |
C |
6: 125,121,519 (GRCm39) |
V767A |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,274,307 (GRCm39) |
K728E |
probably damaging |
Het |
Or51e1 |
T |
G |
7: 102,358,764 (GRCm39) |
C99W |
probably damaging |
Het |
Or5p72 |
G |
A |
7: 108,022,196 (GRCm39) |
M139I |
probably benign |
Het |
Or7g21 |
T |
A |
9: 19,032,306 (GRCm39) |
H15Q |
probably null |
Het |
Pcdhgb2 |
A |
G |
18: 37,825,375 (GRCm39) |
T789A |
probably benign |
Het |
Pcyt2 |
T |
C |
11: 120,502,000 (GRCm39) |
D321G |
probably benign |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rbbp8 |
A |
T |
18: 11,854,839 (GRCm39) |
K355* |
probably null |
Het |
Rhag |
T |
C |
17: 41,147,358 (GRCm39) |
Y407H |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,314,495 (GRCm39) |
V161M |
probably damaging |
Het |
Rpl27-ps3 |
C |
A |
18: 6,332,922 (GRCm39) |
N97K |
probably benign |
Het |
Slc45a4 |
A |
G |
15: 73,453,924 (GRCm39) |
I691T |
possibly damaging |
Het |
Slc9a9 |
A |
T |
9: 94,818,502 (GRCm39) |
|
probably benign |
Het |
Stard13 |
A |
G |
5: 150,984,280 (GRCm39) |
F619L |
probably benign |
Het |
Stt3b |
A |
T |
9: 115,083,862 (GRCm39) |
V438E |
probably damaging |
Het |
Tacr3 |
C |
T |
3: 134,535,182 (GRCm39) |
T50I |
probably benign |
Het |
Tacr3 |
G |
T |
3: 134,635,690 (GRCm39) |
C298F |
probably damaging |
Het |
Taok3 |
C |
T |
5: 117,366,131 (GRCm39) |
T394M |
probably benign |
Het |
Tgfb1i1 |
A |
G |
7: 127,848,348 (GRCm39) |
D128G |
probably damaging |
Het |
Tgfbr3l |
G |
T |
8: 4,300,574 (GRCm39) |
V251L |
probably benign |
Het |
Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,633,238 (GRCm39) |
S953P |
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,033,697 (GRCm39) |
K957E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,565,668 (GRCm39) |
E28228V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vdr |
A |
T |
15: 97,756,801 (GRCm39) |
|
probably null |
Het |
Zfp42 |
A |
T |
8: 43,749,168 (GRCm39) |
L111Q |
probably damaging |
Het |
|
Other mutations in Arhgap45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01360:Arhgap45
|
APN |
10 |
79,864,482 (GRCm39) |
splice site |
probably benign |
|
IGL01414:Arhgap45
|
APN |
10 |
79,862,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01505:Arhgap45
|
APN |
10 |
79,862,376 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02203:Arhgap45
|
APN |
10 |
79,863,387 (GRCm39) |
nonsense |
probably null |
|
IGL02557:Arhgap45
|
APN |
10 |
79,857,472 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02858:Arhgap45
|
APN |
10 |
79,853,768 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03292:Arhgap45
|
APN |
10 |
79,856,803 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03352:Arhgap45
|
APN |
10 |
79,866,585 (GRCm39) |
missense |
probably damaging |
0.96 |
Celt
|
UTSW |
10 |
79,856,652 (GRCm39) |
missense |
probably damaging |
1.00 |
celtic
|
UTSW |
10 |
79,863,423 (GRCm39) |
nonsense |
probably null |
|
druid
|
UTSW |
10 |
79,862,181 (GRCm39) |
critical splice donor site |
probably null |
|
Mistletoe
|
UTSW |
10 |
79,862,936 (GRCm39) |
nonsense |
probably null |
|
Roman
|
UTSW |
10 |
79,863,431 (GRCm39) |
missense |
probably damaging |
1.00 |
stonehenge
|
UTSW |
10 |
79,861,316 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03048:Arhgap45
|
UTSW |
10 |
79,852,851 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4677001:Arhgap45
|
UTSW |
10 |
79,856,583 (GRCm39) |
missense |
probably benign |
|
R0532:Arhgap45
|
UTSW |
10 |
79,857,917 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1233:Arhgap45
|
UTSW |
10 |
79,863,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1579:Arhgap45
|
UTSW |
10 |
79,864,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Arhgap45
|
UTSW |
10 |
79,864,584 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1668:Arhgap45
|
UTSW |
10 |
79,864,584 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1688:Arhgap45
|
UTSW |
10 |
79,864,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Arhgap45
|
UTSW |
10 |
79,853,932 (GRCm39) |
nonsense |
probably null |
|
R1902:Arhgap45
|
UTSW |
10 |
79,861,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R1912:Arhgap45
|
UTSW |
10 |
79,856,524 (GRCm39) |
missense |
probably benign |
0.08 |
R1935:Arhgap45
|
UTSW |
10 |
79,866,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1936:Arhgap45
|
UTSW |
10 |
79,866,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Arhgap45
|
UTSW |
10 |
79,862,326 (GRCm39) |
missense |
probably benign |
0.15 |
R1968:Arhgap45
|
UTSW |
10 |
79,863,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1977:Arhgap45
|
UTSW |
10 |
79,856,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R1986:Arhgap45
|
UTSW |
10 |
79,856,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Arhgap45
|
UTSW |
10 |
79,863,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Arhgap45
|
UTSW |
10 |
79,863,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R2162:Arhgap45
|
UTSW |
10 |
79,852,813 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R2937:Arhgap45
|
UTSW |
10 |
79,864,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Arhgap45
|
UTSW |
10 |
79,864,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Arhgap45
|
UTSW |
10 |
79,862,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4736:Arhgap45
|
UTSW |
10 |
79,862,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Arhgap45
|
UTSW |
10 |
79,866,127 (GRCm39) |
missense |
probably benign |
0.00 |
R4860:Arhgap45
|
UTSW |
10 |
79,862,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Arhgap45
|
UTSW |
10 |
79,862,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Arhgap45
|
UTSW |
10 |
79,856,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Arhgap45
|
UTSW |
10 |
79,862,337 (GRCm39) |
missense |
probably benign |
0.00 |
R5102:Arhgap45
|
UTSW |
10 |
79,857,262 (GRCm39) |
missense |
probably benign |
0.01 |
R5128:Arhgap45
|
UTSW |
10 |
79,866,793 (GRCm39) |
missense |
probably benign |
0.16 |
R5667:Arhgap45
|
UTSW |
10 |
79,861,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5671:Arhgap45
|
UTSW |
10 |
79,861,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5920:Arhgap45
|
UTSW |
10 |
79,864,965 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5998:Arhgap45
|
UTSW |
10 |
79,866,784 (GRCm39) |
missense |
probably damaging |
0.99 |
R6276:Arhgap45
|
UTSW |
10 |
79,862,068 (GRCm39) |
missense |
probably benign |
0.25 |
R6675:Arhgap45
|
UTSW |
10 |
79,853,938 (GRCm39) |
missense |
probably null |
0.98 |
R6738:Arhgap45
|
UTSW |
10 |
79,863,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Arhgap45
|
UTSW |
10 |
79,853,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6863:Arhgap45
|
UTSW |
10 |
79,853,616 (GRCm39) |
missense |
probably benign |
0.03 |
R6978:Arhgap45
|
UTSW |
10 |
79,857,682 (GRCm39) |
missense |
probably benign |
0.00 |
R7089:Arhgap45
|
UTSW |
10 |
79,862,181 (GRCm39) |
critical splice donor site |
probably null |
|
R7215:Arhgap45
|
UTSW |
10 |
79,861,316 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7307:Arhgap45
|
UTSW |
10 |
79,865,016 (GRCm39) |
missense |
probably benign |
0.14 |
R7308:Arhgap45
|
UTSW |
10 |
79,862,392 (GRCm39) |
critical splice donor site |
probably null |
|
R7480:Arhgap45
|
UTSW |
10 |
79,862,936 (GRCm39) |
nonsense |
probably null |
|
R7481:Arhgap45
|
UTSW |
10 |
79,858,134 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7649:Arhgap45
|
UTSW |
10 |
79,866,835 (GRCm39) |
missense |
probably benign |
0.00 |
R7652:Arhgap45
|
UTSW |
10 |
79,864,672 (GRCm39) |
missense |
probably benign |
0.01 |
R7748:Arhgap45
|
UTSW |
10 |
79,852,766 (GRCm39) |
unclassified |
probably benign |
|
R7883:Arhgap45
|
UTSW |
10 |
79,863,423 (GRCm39) |
nonsense |
probably null |
|
R8121:Arhgap45
|
UTSW |
10 |
79,853,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R8169:Arhgap45
|
UTSW |
10 |
79,863,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Arhgap45
|
UTSW |
10 |
79,863,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R8175:Arhgap45
|
UTSW |
10 |
79,863,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Arhgap45
|
UTSW |
10 |
79,863,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R8186:Arhgap45
|
UTSW |
10 |
79,863,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R8187:Arhgap45
|
UTSW |
10 |
79,863,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R8687:Arhgap45
|
UTSW |
10 |
79,852,621 (GRCm39) |
unclassified |
probably benign |
|
R8866:Arhgap45
|
UTSW |
10 |
79,853,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R8905:Arhgap45
|
UTSW |
10 |
79,855,570 (GRCm39) |
missense |
probably benign |
0.00 |
R9299:Arhgap45
|
UTSW |
10 |
79,862,565 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9412:Arhgap45
|
UTSW |
10 |
79,855,564 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
R9579:Arhgap45
|
UTSW |
10 |
79,853,843 (GRCm39) |
missense |
probably benign |
|
R9629:Arhgap45
|
UTSW |
10 |
79,863,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R9710:Arhgap45
|
UTSW |
10 |
79,857,635 (GRCm39) |
missense |
probably damaging |
0.99 |
X0023:Arhgap45
|
UTSW |
10 |
79,866,634 (GRCm39) |
missense |
probably damaging |
0.98 |
X0063:Arhgap45
|
UTSW |
10 |
79,866,190 (GRCm39) |
missense |
possibly damaging |
0.51 |
Z1176:Arhgap45
|
UTSW |
10 |
79,864,886 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Arhgap45
|
UTSW |
10 |
79,861,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTGTCAATACCCTCAACTG -3'
(R):5'- AGCTTGTAACAGACCAGACC -3'
Sequencing Primer
(F):5'- AATACCCTCAACTGGCCCTTG -3'
(R):5'- ACCTCTGCTGCTGTGAAAG -3'
|
Posted On |
2015-10-21 |