Incidental Mutation 'R7480:Arhgap45'
| ID |
579756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap45
|
| Ensembl Gene |
ENSMUSG00000035697 |
| Gene Name |
Rho GTPase activating protein 45 |
| Synonyms |
6330406L22Rik, Hmha1 |
| MMRRC Submission |
045554-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 79862936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 704
(L704*)
|
| 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 null
Transcript: ENSMUST00000043311
AA Change: L577*
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: L577*
| 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 null
Transcript: ENSMUST00000099501
AA Change: L693*
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: L693*
| 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 null
Transcript: ENSMUST00000105373
AA Change: L704*
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: L704*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
T |
G |
9: 50,733,928 (GRCm39) |
M542R |
probably benign |
Het |
| Apol10b |
G |
T |
15: 77,472,988 (GRCm39) |
A22D |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,779,306 (GRCm39) |
D694G |
probably damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,150 (GRCm39) |
I170N |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,029,043 (GRCm39) |
F1163L |
probably damaging |
Het |
| Ces2f |
A |
G |
8: 105,681,338 (GRCm39) |
K559R |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,836,484 (GRCm39) |
C893Y |
probably damaging |
Het |
| Csf1r |
T |
G |
18: 61,250,610 (GRCm39) |
D440E |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,905,311 (GRCm39) |
D1007G |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,540 (GRCm39) |
C85S |
probably damaging |
Het |
| Epb41l3 |
A |
C |
17: 69,568,867 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
A |
7: 119,385,734 (GRCm39) |
R256* |
probably null |
Het |
| Fshr |
A |
C |
17: 89,292,802 (GRCm39) |
Y625* |
probably null |
Het |
| Galk2 |
A |
G |
2: 125,788,845 (GRCm39) |
I300V |
probably benign |
Het |
| Garin1a |
G |
A |
6: 29,281,435 (GRCm39) |
|
probably null |
Het |
| Gm3409 |
T |
A |
5: 146,476,311 (GRCm39) |
V154E |
probably damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,327 (GRCm39) |
I234T |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,241,713 (GRCm39) |
Y1995C |
probably benign |
Het |
| Herc6 |
C |
T |
6: 57,558,206 (GRCm39) |
T62I |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,552,985 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
G |
5: 24,751,904 (GRCm39) |
E498A |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,902 (GRCm39) |
P128T |
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,107,431 (GRCm39) |
F229L |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,436,025 (GRCm39) |
V1256E |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,846 (GRCm39) |
S133P |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,432,257 (GRCm39) |
V176A |
possibly damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,066 (GRCm39) |
T263A |
possibly damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,716,595 (GRCm39) |
W5* |
probably null |
Het |
| Nt5dc1 |
C |
T |
10: 34,200,450 (GRCm39) |
G190R |
probably damaging |
Het |
| Nt5dc1 |
C |
A |
10: 34,200,449 (GRCm39) |
G190V |
probably damaging |
Het |
| Oprd1 |
A |
G |
4: 131,844,492 (GRCm39) |
I172T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,493 (GRCm39) |
T78S |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,165,737 (GRCm39) |
S229P |
probably benign |
Het |
| Or6f1 |
A |
G |
7: 85,970,888 (GRCm39) |
S91P |
probably benign |
Het |
| Or7e173 |
C |
T |
9: 19,939,230 (GRCm39) |
M1I |
probably null |
Het |
| Pafah1b1 |
A |
C |
11: 74,576,740 (GRCm39) |
C184G |
probably damaging |
Het |
| Pde5a |
A |
T |
3: 122,596,797 (GRCm39) |
N495Y |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,225,234 (GRCm39) |
Y588* |
probably null |
Het |
| Plekha7 |
A |
T |
7: 115,736,403 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
T |
C |
4: 143,622,065 (GRCm39) |
D430G |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,805,669 (GRCm39) |
K427R |
probably benign |
Het |
| Rai14 |
C |
A |
15: 10,571,622 (GRCm39) |
E940D |
probably benign |
Het |
| Rasl11b |
T |
A |
5: 74,358,771 (GRCm39) |
V92E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,765,757 (GRCm39) |
I29K |
unknown |
Het |
| Reg3a |
C |
T |
6: 78,359,330 (GRCm39) |
T110I |
probably damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,073 (GRCm39) |
G602D |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,029,199 (GRCm39) |
C521R |
probably damaging |
Het |
| Senp7 |
G |
A |
16: 55,975,589 (GRCm39) |
V432I |
possibly damaging |
Het |
| Skint8 |
A |
T |
4: 111,785,784 (GRCm39) |
R77* |
probably null |
Het |
| Slamf9 |
G |
A |
1: 172,305,040 (GRCm39) |
C218Y |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,649 (GRCm39) |
T130A |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,574 (GRCm39) |
I126V |
possibly damaging |
Het |
| Taar9 |
T |
A |
10: 23,984,843 (GRCm39) |
N197I |
possibly damaging |
Het |
| Tango6 |
A |
T |
8: 107,423,359 (GRCm39) |
D378V |
possibly damaging |
Het |
| Tfb2m |
A |
G |
1: 179,356,747 (GRCm39) |
F396L |
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,903,729 (GRCm39) |
P429L |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,934,747 (GRCm39) |
D2452G |
probably damaging |
Het |
| Ulk3 |
C |
T |
9: 57,498,523 (GRCm39) |
R131* |
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,558 (GRCm39) |
R250* |
probably null |
Het |
| Vmn1r54 |
A |
G |
6: 90,246,160 (GRCm39) |
I25V |
possibly damaging |
Het |
| Wnt7a |
C |
A |
6: 91,371,395 (GRCm39) |
R189L |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,701,505 (GRCm39) |
R1112* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,881,307 (GRCm39) |
V552D |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
|
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'- ATCAGGAAGCTGGCTTGGTAG -3'
(R):5'- AGAGCTTTACACTTGCATGACCAG -3'
Sequencing Primer
(F):5'- AAGCTGGCTTGGTAGCTTCC -3'
(R):5'- AGCCCCTGATCTACTCACTGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation