Incidental Mutation 'IGL01505:Arhgap45'
| ID |
89040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap45
|
| Ensembl Gene |
ENSMUSG00000035697 |
| Gene Name |
Rho GTPase activating protein 45 |
| Synonyms |
6330406L22Rik, Hmha1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79862376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 488
(N488Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043311]
[ENSMUST00000099501]
[ENSMUST00000105373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043311
AA Change: N488Y
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: N488Y
| 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 benign
Transcript: ENSMUST00000099501
AA Change: N604Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: N604Y
| 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 benign
Transcript: ENSMUST00000105373
AA Change: N615Y
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: N615Y
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
C |
18: 69,080,418 (GRCm39) |
|
probably null |
Het |
| A2m |
A |
G |
6: 121,653,906 (GRCm39) |
N1413S |
possibly damaging |
Het |
| Aadacl4fm4 |
C |
T |
4: 144,401,188 (GRCm39) |
V99M |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,083,889 (GRCm39) |
D94N |
probably damaging |
Het |
| Atp7a |
A |
G |
X: 105,153,436 (GRCm39) |
K1114E |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,265,512 (GRCm39) |
V275M |
probably benign |
Het |
| Ceacam12 |
T |
C |
7: 17,801,357 (GRCm39) |
V112A |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,229,345 (GRCm39) |
D2256V |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,093,807 (GRCm39) |
|
probably null |
Het |
| Clcn5 |
A |
T |
X: 7,036,678 (GRCm39) |
L268* |
probably null |
Het |
| Cldn17 |
A |
G |
16: 88,303,591 (GRCm39) |
I46T |
possibly damaging |
Het |
| Cnot1 |
A |
T |
8: 96,455,346 (GRCm39) |
I2025N |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,706,092 (GRCm39) |
V574M |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,318,619 (GRCm39) |
C1373S |
unknown |
Het |
| Col9a1 |
A |
G |
1: 24,224,205 (GRCm39) |
N129S |
unknown |
Het |
| Cp |
C |
T |
3: 20,031,356 (GRCm39) |
P598S |
possibly damaging |
Het |
| Cpb1 |
G |
A |
3: 20,320,410 (GRCm39) |
R150C |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,115,917 (GRCm39) |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,291,692 (GRCm39) |
E215G |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,760,239 (GRCm39) |
R1634Q |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,554,004 (GRCm39) |
T313A |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,585,971 (GRCm39) |
V185E |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,902,003 (GRCm38) |
|
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,062 (GRCm39) |
E315G |
probably benign |
Het |
| Gjd3 |
T |
A |
11: 102,691,552 (GRCm39) |
K150N |
probably benign |
Het |
| Gpihbp1 |
C |
T |
15: 75,469,977 (GRCm39) |
|
probably benign |
Het |
| Gpr160 |
T |
C |
3: 30,950,002 (GRCm39) |
S25P |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,820,608 (GRCm39) |
R58* |
probably null |
Het |
| Ifit1 |
T |
A |
19: 34,625,854 (GRCm39) |
M330K |
probably benign |
Het |
| Igkv1-122 |
T |
C |
6: 67,994,178 (GRCm39) |
V22A |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,183,048 (GRCm39) |
D692E |
probably benign |
Het |
| Il15ra |
T |
C |
2: 11,737,956 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,244 (GRCm39) |
I252V |
probably damaging |
Het |
| Klra10 |
C |
T |
6: 130,249,680 (GRCm39) |
G202R |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,929,661 (GRCm39) |
V388A |
probably damaging |
Het |
| L2hgdh |
A |
G |
12: 69,768,175 (GRCm39) |
S108P |
probably damaging |
Het |
| Msto1 |
G |
A |
3: 88,818,050 (GRCm39) |
T388M |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,441 (GRCm39) |
E908G |
probably damaging |
Het |
| Neto1 |
C |
A |
18: 86,491,814 (GRCm39) |
D238E |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,117,159 (GRCm39) |
D294E |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,635,816 (GRCm39) |
S306P |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,055,167 (GRCm39) |
C240* |
probably null |
Het |
| Pard3 |
T |
A |
8: 128,050,544 (GRCm39) |
L202H |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,458,293 (GRCm39) |
N190S |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,127,222 (GRCm39) |
D1077G |
probably benign |
Het |
| Pmfbp1 |
A |
C |
8: 110,240,543 (GRCm39) |
L208F |
probably damaging |
Het |
| Pms1 |
C |
T |
1: 53,246,130 (GRCm39) |
D470N |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,238,578 (GRCm39) |
F108L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,804 (GRCm39) |
M327K |
possibly damaging |
Het |
| Slc37a4 |
T |
A |
9: 44,311,261 (GRCm39) |
L184Q |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,094 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 75,047,117 (GRCm39) |
Y1270C |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,581,565 (GRCm39) |
V169E |
possibly damaging |
Het |
| Stpg2 |
C |
T |
3: 139,023,214 (GRCm39) |
A410V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,764,164 (GRCm39) |
D555E |
probably benign |
Het |
| Tsg101 |
A |
G |
7: 46,558,808 (GRCm39) |
Y46H |
probably damaging |
Het |
| Vmn2r111 |
G |
A |
17: 22,767,553 (GRCm39) |
S648L |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,267 (GRCm39) |
R682* |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,514 (GRCm39) |
I676N |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation