Incidental Mutation 'R9299:Arhgap45'
| ID |
704806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap45
|
| Ensembl Gene |
ENSMUSG00000035697 |
| Gene Name |
Rho GTPase activating protein 45 |
| Synonyms |
6330406L22Rik, Hmha1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9299 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79862565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 645
(S645P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043311]
[ENSMUST00000099501]
[ENSMUST00000105373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043311
AA Change: S518P
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: S518P
| 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 |
possibly damaging
Transcript: ENSMUST00000099501
AA Change: S634P
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: S634P
| 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 |
possibly damaging
Transcript: ENSMUST00000105373
AA Change: S645P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: S645P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
T |
9: 57,163,792 (GRCm39) |
R861S |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,359,042 (GRCm39) |
N588I |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,773,976 (GRCm39) |
Y1727H |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
| Alad |
C |
T |
4: 62,429,760 (GRCm39) |
|
probably null |
Het |
| Anapc15-ps |
C |
A |
10: 95,509,077 (GRCm39) |
D68Y |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,554,666 (GRCm39) |
M1K |
probably null |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,230 (GRCm39) |
I118F |
probably damaging |
Het |
| Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
| Cdc42bpa |
C |
A |
1: 179,972,073 (GRCm39) |
L1292I |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,072,092 (GRCm39) |
F96V |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
| Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
| Cyp4a10 |
A |
G |
4: 115,376,947 (GRCm39) |
M104V |
probably benign |
Het |
| Cyth1 |
C |
T |
11: 118,059,837 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
| Dpcd |
C |
A |
19: 45,566,009 (GRCm39) |
Q203K |
probably damaging |
Het |
| Dph1 |
T |
A |
11: 75,070,622 (GRCm39) |
Q339L |
possibly damaging |
Het |
| Dpy19l3 |
G |
T |
7: 35,424,752 (GRCm39) |
S187* |
probably null |
Het |
| Eva1a |
G |
T |
6: 82,069,047 (GRCm39) |
A125S |
probably damaging |
Het |
| Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,563,980 (GRCm39) |
T176A |
probably benign |
Het |
| Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
| Gm12888 |
G |
A |
4: 121,182,044 (GRCm39) |
S16F |
unknown |
Het |
| Hsf5 |
T |
A |
11: 87,526,770 (GRCm39) |
C481S |
probably benign |
Het |
| Ifi211 |
T |
A |
1: 173,735,288 (GRCm39) |
Q47L |
probably damaging |
Het |
| Il17re |
A |
T |
6: 113,440,971 (GRCm39) |
M202L |
probably benign |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
| Ksr2 |
G |
A |
5: 117,885,399 (GRCm39) |
|
probably null |
Het |
| Lrtm1 |
C |
T |
14: 28,743,714 (GRCm39) |
P61S |
probably damaging |
Het |
| Ltk |
A |
T |
2: 119,584,721 (GRCm39) |
S487R |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,185,538 (GRCm39) |
D876E |
possibly damaging |
Het |
| Nalf1 |
T |
C |
8: 9,820,156 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or8b39 |
A |
G |
9: 37,996,785 (GRCm39) |
T218A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,311 (GRCm39) |
N56S |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,885 (GRCm39) |
E118* |
probably null |
Het |
| Pcdhb4 |
G |
A |
18: 37,442,264 (GRCm39) |
A525T |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,002,204 (GRCm39) |
D617V |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,940,287 (GRCm39) |
Y156C |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,723,999 (GRCm39) |
S2644P |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
| Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,937,130 (GRCm39) |
V252A |
|
Het |
| Slx9 |
C |
A |
10: 77,351,535 (GRCm39) |
A14S |
possibly damaging |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| St6galnac6 |
G |
T |
2: 32,502,345 (GRCm39) |
R78L |
probably benign |
Het |
| Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,988 (GRCm39) |
|
probably benign |
Het |
| Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,504,131 (GRCm39) |
F341S |
|
Het |
| Tmem82 |
A |
T |
4: 141,343,861 (GRCm39) |
C136* |
probably null |
Het |
| Tmprss11a |
A |
T |
5: 86,570,361 (GRCm39) |
C199* |
probably null |
Het |
| Zbtb48 |
T |
C |
4: 152,105,147 (GRCm39) |
N505S |
possibly damaging |
Het |
| Zfp385b |
A |
T |
2: 77,246,115 (GRCm39) |
V304E |
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 |
|
R4695:Arhgap45
|
UTSW |
10 |
79,861,364 (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 |
|
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'- GAGCATATGCAAGCACACAG -3'
(R):5'- AGGCCAGCTGGATAAATCACG -3'
Sequencing Primer
(F):5'- CACACAGAGTGGATGCTGCATTC -3'
(R):5'- TCACCTGAATCAAAGGCGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation