Incidental Mutation 'R8175:Arhgap45'
| ID |
634299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap45
|
| Ensembl Gene |
ENSMUSG00000035697 |
| Gene Name |
Rho GTPase activating protein 45 |
| Synonyms |
6330406L22Rik, Hmha1 |
| MMRRC Submission |
067600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79863706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 819
(A819T)
|
| 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: A692T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: A692T
| 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: A808T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: A808T
| 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: A819T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: A819T
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
C |
T |
9: 30,815,952 (GRCm39) |
V635M |
probably damaging |
Het |
| Aim2 |
A |
T |
1: 173,282,920 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,729,339 (GRCm39) |
V700A |
unknown |
Het |
| Arhgap10 |
T |
C |
8: 78,037,471 (GRCm39) |
T586A |
probably benign |
Het |
| Arhgef4 |
G |
A |
1: 34,849,455 (GRCm39) |
V349I |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,492,170 (GRCm39) |
F569L |
possibly damaging |
Het |
| Btbd10 |
T |
A |
7: 112,921,999 (GRCm39) |
|
probably null |
Het |
| Capza2 |
G |
A |
6: 17,665,381 (GRCm39) |
D270N |
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,929,575 (GRCm39) |
N584D |
probably benign |
Het |
| Coro1c |
T |
A |
5: 113,988,876 (GRCm39) |
I156F |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,350,178 (GRCm39) |
I299T |
probably benign |
Het |
| Cse1l |
T |
A |
2: 166,785,128 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
T |
C |
5: 36,772,814 (GRCm39) |
E527G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,253,710 (GRCm39) |
L149S |
possibly damaging |
Het |
| Ecpas |
C |
T |
4: 58,872,756 (GRCm39) |
V182M |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,241,633 (GRCm39) |
W925L |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,130,396 (GRCm39) |
N1071D |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,809,026 (GRCm39) |
S93T |
probably damaging |
Het |
| Eipr1 |
A |
G |
12: 28,913,106 (GRCm39) |
E269G |
|
Het |
| Eng |
C |
A |
2: 32,568,934 (GRCm39) |
T487K |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,517,361 (GRCm39) |
Y130H |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,019,834 (GRCm39) |
R770* |
probably null |
Het |
| Fam227a |
A |
G |
15: 79,524,861 (GRCm39) |
F201S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,930,847 (GRCm39) |
E108K |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,863,873 (GRCm39) |
C2548* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,638,824 (GRCm39) |
I1971T |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,088 (GRCm39) |
F3607Y |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,818,021 (GRCm39) |
I4585L |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,932 (GRCm39) |
N275S |
|
Het |
| Hus1b |
A |
G |
13: 31,131,215 (GRCm39) |
V148A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,316,365 (GRCm39) |
L575P |
possibly damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,542 (GRCm39) |
F371Y |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,488,496 (GRCm39) |
R860G |
probably damaging |
Het |
| Jade1 |
G |
T |
3: 41,567,723 (GRCm39) |
R597L |
probably benign |
Het |
| Krt4 |
A |
G |
15: 101,828,984 (GRCm39) |
|
probably null |
Het |
| Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,216,496 (GRCm39) |
T824A |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,353,076 (GRCm39) |
C1307* |
probably null |
Het |
| Ndufb10 |
A |
T |
17: 24,943,166 (GRCm39) |
V48E |
possibly damaging |
Het |
| Nelfa |
T |
C |
5: 34,079,357 (GRCm39) |
K72R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,886,786 (GRCm39) |
V7767I |
unknown |
Het |
| Pptc7 |
T |
A |
5: 122,457,882 (GRCm39) |
C284S |
probably benign |
Het |
| Pxdc1 |
A |
G |
13: 34,812,798 (GRCm39) |
S218P |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,775,755 (GRCm39) |
W110R |
probably damaging |
Het |
| Ren1 |
T |
C |
1: 133,282,007 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Ripor3 |
T |
C |
2: 167,825,679 (GRCm39) |
S760G |
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,395,415 (GRCm39) |
E1327G |
unknown |
Het |
| Setd5 |
T |
C |
6: 113,091,874 (GRCm39) |
W232R |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,790 (GRCm39) |
H171Q |
probably damaging |
Het |
| Smoc1 |
A |
G |
12: 81,214,440 (GRCm39) |
D285G |
probably damaging |
Het |
| Taf10 |
T |
C |
7: 105,393,134 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tgfbr2 |
G |
A |
9: 115,939,023 (GRCm39) |
S293L |
possibly damaging |
Het |
| Tmem181a |
A |
G |
17: 6,346,075 (GRCm39) |
I190V |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,435,973 (GRCm39) |
N716D |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,334,855 (GRCm39) |
K157N |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,377,377 (GRCm39) |
R1255H |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,238,349 (GRCm39) |
I464F |
probably damaging |
Het |
| Zbtb20 |
A |
T |
16: 43,397,443 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
T |
G |
7: 29,529,205 (GRCm39) |
L630R |
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 |
|
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 |
|
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'- ATGGGGTGCCCTTCATTGTC -3'
(R):5'- ACTCACAGTAGAGGCCCATC -3'
Sequencing Primer
(F):5'- AAAATGTGTCTGTGAGATTGAGC -3'
(R):5'- CAGCCCAGCCTCTAACTGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation