Incidental Mutation 'R1688:Arhgap45'
ID |
189505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap45
|
Ensembl Gene |
ENSMUSG00000035697 |
Gene Name |
Rho GTPase activating protein 45 |
Synonyms |
6330406L22Rik, Hmha1 |
MMRRC Submission |
039721-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1688 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79864929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 964
(Y964C)
|
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: Y837C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041019 Gene: ENSMUSG00000035697 AA Change: Y837C
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: Y953C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097100 Gene: ENSMUSG00000035697 AA Change: Y953C
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: Y964C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101012 Gene: ENSMUSG00000035697 AA Change: Y964C
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 |
0.7999 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
C |
13: 61,002,695 (GRCm39) |
T20A |
probably benign |
Het |
Acaca |
T |
G |
11: 84,129,722 (GRCm39) |
V359G |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,226,061 (GRCm39) |
R1359* |
probably null |
Het |
Aggf1 |
T |
C |
13: 95,501,275 (GRCm39) |
E369G |
probably damaging |
Het |
Alkbh8 |
T |
A |
9: 3,382,765 (GRCm39) |
D418E |
probably damaging |
Het |
Alox8 |
T |
C |
11: 69,080,732 (GRCm39) |
D203G |
probably benign |
Het |
Ank |
A |
G |
15: 27,557,320 (GRCm39) |
D168G |
probably damaging |
Het |
Ap5m1 |
A |
G |
14: 49,318,291 (GRCm39) |
|
probably null |
Het |
Arhgef2 |
A |
G |
3: 88,547,607 (GRCm39) |
D571G |
probably benign |
Het |
Bdh2 |
A |
T |
3: 135,007,399 (GRCm39) |
Y223F |
possibly damaging |
Het |
Bin1 |
T |
C |
18: 32,552,988 (GRCm39) |
|
probably benign |
Het |
Bin1 |
G |
A |
18: 32,558,025 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,316,779 (GRCm39) |
M1514L |
possibly damaging |
Het |
Cd109 |
T |
A |
9: 78,612,373 (GRCm39) |
F1253L |
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,426,843 (GRCm39) |
E1065V |
probably null |
Het |
Chmp2b |
T |
C |
16: 65,347,922 (GRCm39) |
N14S |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,258,093 (GRCm39) |
V2113A |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,849,794 (GRCm39) |
F1660L |
probably damaging |
Het |
Cyp2c37 |
T |
G |
19: 39,982,887 (GRCm39) |
|
probably null |
Het |
Daam1 |
A |
T |
12: 71,993,820 (GRCm39) |
I408F |
unknown |
Het |
Dsc3 |
T |
A |
18: 20,099,284 (GRCm39) |
D744V |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,117,093 (GRCm39) |
F379L |
probably damaging |
Het |
Ewsr1 |
G |
T |
11: 5,022,870 (GRCm39) |
D417E |
unknown |
Het |
Eya4 |
A |
T |
10: 22,999,759 (GRCm39) |
N424K |
probably damaging |
Het |
Gm9312 |
A |
C |
12: 24,301,920 (GRCm39) |
|
noncoding transcript |
Het |
Havcr2 |
T |
C |
11: 46,370,191 (GRCm39) |
I206T |
probably damaging |
Het |
Igfbp2 |
T |
C |
1: 72,864,125 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
T |
C |
1: 69,581,439 (GRCm39) |
K196R |
possibly damaging |
Het |
Il12rb1 |
G |
A |
8: 71,272,046 (GRCm39) |
G587R |
probably damaging |
Het |
Immt |
A |
T |
6: 71,833,995 (GRCm39) |
H208L |
probably damaging |
Het |
Kcnq2 |
C |
T |
2: 180,728,826 (GRCm39) |
V540I |
probably damaging |
Het |
Klk1b8 |
T |
A |
7: 43,595,229 (GRCm39) |
|
probably benign |
Het |
Mc2r |
T |
A |
18: 68,541,090 (GRCm39) |
I68F |
possibly damaging |
Het |
Neil3 |
T |
C |
8: 54,054,069 (GRCm39) |
E320G |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,329,494 (GRCm39) |
T276A |
probably damaging |
Het |
Nphp3 |
T |
C |
9: 103,880,323 (GRCm39) |
L115P |
probably damaging |
Het |
Nras |
T |
C |
3: 102,967,689 (GRCm39) |
L95P |
probably benign |
Het |
Ogt |
G |
A |
X: 100,699,296 (GRCm39) |
V190I |
probably damaging |
Het |
Or11h6 |
A |
T |
14: 50,880,705 (GRCm39) |
K322N |
probably benign |
Het |
Or5t17 |
A |
G |
2: 86,832,730 (GRCm39) |
Y139C |
probably benign |
Het |
P2ry6 |
T |
A |
7: 100,587,591 (GRCm39) |
H256L |
probably damaging |
Het |
Pcbp4 |
T |
C |
9: 106,338,533 (GRCm39) |
S153P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,838,507 (GRCm39) |
|
probably null |
Het |
Per2 |
A |
G |
1: 91,351,551 (GRCm39) |
L985P |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,882 (GRCm39) |
A422V |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,753,710 (GRCm39) |
N1678S |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,350,450 (GRCm39) |
S432G |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,416,363 (GRCm39) |
D47V |
possibly damaging |
Het |
Ppp2cb |
A |
G |
8: 34,105,480 (GRCm39) |
I163M |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,739,700 (GRCm39) |
E577G |
probably benign |
Het |
Ptprd |
G |
T |
4: 75,900,921 (GRCm39) |
P1063T |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,514,656 (GRCm39) |
D866G |
probably benign |
Het |
Rdx |
T |
C |
9: 51,972,211 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
Rhno1 |
A |
G |
6: 128,334,897 (GRCm39) |
V142A |
probably benign |
Het |
Sema5a |
C |
T |
15: 32,669,570 (GRCm39) |
T698I |
probably benign |
Het |
Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
Slc22a3 |
A |
T |
17: 12,652,694 (GRCm39) |
M350K |
probably damaging |
Het |
Spata31d1b |
T |
A |
13: 59,863,274 (GRCm39) |
S141T |
possibly damaging |
Het |
Tada2a |
T |
C |
11: 83,975,585 (GRCm39) |
|
probably null |
Het |
Tspan10 |
A |
G |
11: 120,333,608 (GRCm39) |
M2V |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,685,391 (GRCm39) |
T566A |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,438,543 (GRCm39) |
Q1872R |
possibly damaging |
Het |
Zfp605 |
T |
A |
5: 110,276,907 (GRCm39) |
I675N |
possibly damaging |
Het |
Zkscan8 |
A |
T |
13: 21,704,324 (GRCm39) |
N538K |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACACTCTTATACCTGCTGAAGC -3'
(R):5'- GCCCAGAATCCTGCGAGCATATTTG -3'
Sequencing Primer
(F):5'- ATACCTGCTGAAGCACTTGC -3'
(R):5'- ccTGCGAGCATATTTGTGTCAC -3'
|
Posted On |
2014-05-14 |