Incidental Mutation 'R2938:Arhgap45'
| ID |
256114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap45
|
| Ensembl Gene |
ENSMUSG00000035697 |
| Gene Name |
Rho GTPase activating protein 45 |
| Synonyms |
6330406L22Rik, Hmha1 |
| MMRRC Submission |
040515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79864836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 933
(M933K)
|
| 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: M806K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: M806K
| 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: M922K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: M922K
| 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: M933K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: M933K
| 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 |
0.9609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
| Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
| Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
| Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
| Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
| Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
| Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
| Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
| Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
| Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,795,803 (GRCm39) |
S1315T |
probably damaging |
Het |
| Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
| Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
| Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
| Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
| Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
| Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
| Slc9a3 |
T |
C |
13: 74,269,788 (GRCm39) |
I52T |
possibly damaging |
Het |
| Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
| Tmub1 |
A |
G |
5: 24,650,922 (GRCm39) |
*261Q |
probably null |
Het |
| Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
| Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
| Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,239,397 (GRCm39) |
E389K |
probably damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,703,630 (GRCm39) |
T112A |
possibly damaging |
Het |
| Xpo4 |
G |
T |
14: 57,841,897 (GRCm39) |
Q473K |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
| Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
probably benign |
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 |
|
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'- AGGATCTGCCAGCCGAAAAC -3'
(R):5'- GCATATTTGTGTCACTTCCCTATAG -3'
Sequencing Primer
(F):5'- CCGGGCCACACTCTTATAC -3'
(R):5'- ACTTCCCTATAGCCTAAGGGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation