Incidental Mutation 'R3081:Arhgap45'
| ID |
265436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap45
|
| Ensembl Gene |
ENSMUSG00000035697 |
| Gene Name |
Rho GTPase activating protein 45 |
| Synonyms |
6330406L22Rik, Hmha1 |
| MMRRC Submission |
040571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79862281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 583
(R583H)
|
| 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: R456H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: R456H
| 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: R572H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: R572H
| 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: R583H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: R583H
| 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
|
| Meta Mutation Damage Score |
0.2521 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
T |
A |
7: 97,214,432 (GRCm39) |
T48S |
probably benign |
Het |
| Abcc3 |
T |
A |
11: 94,247,802 (GRCm39) |
L1230F |
probably damaging |
Het |
| Abcf3 |
T |
A |
16: 20,378,114 (GRCm39) |
I542N |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,226,508 (GRCm39) |
L932P |
probably damaging |
Het |
| Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,989 (GRCm39) |
N1155K |
possibly damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,532 (GRCm39) |
K394E |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,470,830 (GRCm39) |
Y472H |
probably damaging |
Het |
| Cfap77 |
T |
A |
2: 28,852,662 (GRCm39) |
K203N |
probably damaging |
Het |
| Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
| Coro6 |
T |
C |
11: 77,359,738 (GRCm39) |
F336S |
probably damaging |
Het |
| Derl1 |
C |
A |
15: 57,739,007 (GRCm39) |
|
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,181,610 (GRCm39) |
H1651L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,747,921 (GRCm39) |
H1163R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,473,689 (GRCm39) |
D35G |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,111,678 (GRCm39) |
D2004G |
probably damaging |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,732,987 (GRCm39) |
V436A |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,908,222 (GRCm39) |
Y660H |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,617 (GRCm39) |
V15A |
probably benign |
Het |
| Gpr25 |
A |
C |
1: 136,187,623 (GRCm39) |
I330S |
possibly damaging |
Het |
| Hdac5 |
A |
T |
11: 102,096,436 (GRCm39) |
V257E |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,055 (GRCm39) |
D294G |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,761,274 (GRCm39) |
N459S |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,086,927 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,378 (GRCm39) |
A608T |
possibly damaging |
Het |
| Nmd3 |
A |
G |
3: 69,631,732 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
C |
T |
13: 49,831,868 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,668,051 (GRCm39) |
M34K |
probably damaging |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,352 (GRCm39) |
M258K |
possibly damaging |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pcdhgb2 |
T |
C |
18: 37,824,566 (GRCm39) |
F519S |
probably damaging |
Het |
| Phf11c |
A |
G |
14: 59,618,933 (GRCm39) |
V284A |
probably benign |
Het |
| Rasl11a |
G |
T |
5: 146,784,113 (GRCm39) |
C186F |
probably benign |
Het |
| Rps18-ps3 |
T |
C |
8: 107,989,469 (GRCm39) |
|
noncoding transcript |
Het |
| Rusc1 |
A |
G |
3: 88,999,030 (GRCm39) |
S251P |
possibly damaging |
Het |
| Rxfp3 |
T |
C |
15: 11,037,303 (GRCm39) |
E23G |
probably benign |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Slc22a4 |
A |
G |
11: 53,898,615 (GRCm39) |
V159A |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 7,013,016 (GRCm39) |
A23T |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tmed4 |
T |
C |
11: 6,224,151 (GRCm39) |
H115R |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,501,048 (GRCm39) |
L74H |
probably damaging |
Het |
| Trav6n-5 |
A |
T |
14: 53,342,741 (GRCm39) |
H93L |
possibly damaging |
Het |
| Tsen54 |
T |
A |
11: 115,710,990 (GRCm39) |
D187E |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,089 (GRCm39) |
N775S |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,642,101 (GRCm39) |
N2175K |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,717 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,804,928 (GRCm39) |
Q449L |
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 |
|
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 |
|
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'- ACAGTACGCATCTCACGTG -3'
(R):5'- ATGAACCTGGTGACCTCGTC -3'
Sequencing Primer
(F):5'- ATCTCACGTGCGTCAGCTG -3'
(R):5'- TGAAGAAAGTGTGCCCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation