Incidental Mutation 'R7089:Arhgap45'
ID |
550095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap45
|
Ensembl Gene |
ENSMUSG00000035697 |
Gene Name |
Rho GTPase activating protein 45 |
Synonyms |
6330406L22Rik, Hmha1 |
MMRRC Submission |
045183-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7089 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79852505-79867305 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 79862181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043311]
[ENSMUST00000099501]
[ENSMUST00000105373]
[ENSMUST00000105373]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000043311
|
SMART Domains |
Protein: ENSMUSP00000041019 Gene: ENSMUSG00000035697
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
|
SMART Domains |
Protein: ENSMUSP00000097100 Gene: ENSMUSG00000035697
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
|
SMART Domains |
Protein: ENSMUSP00000101012 Gene: ENSMUSG00000035697
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 |
probably null
Transcript: ENSMUST00000105373
|
SMART Domains |
Protein: ENSMUSP00000101012 Gene: ENSMUSG00000035697
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 |
0.9587 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,226,927 (GRCm39) |
V494A |
probably benign |
Het |
1700017B05Rik |
A |
T |
9: 57,166,041 (GRCm39) |
L111Q |
probably damaging |
Het |
Adgrf4 |
T |
G |
17: 42,977,424 (GRCm39) |
I640L |
possibly damaging |
Het |
Afdn |
T |
G |
17: 14,111,074 (GRCm39) |
|
probably null |
Het |
Ammecr1l |
A |
T |
18: 31,894,877 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
T |
1: 58,375,808 (GRCm39) |
Y879F |
probably benign |
Het |
Arpp21 |
G |
T |
9: 111,955,514 (GRCm39) |
H542N |
probably benign |
Het |
Ccdc192 |
C |
T |
18: 57,725,059 (GRCm39) |
T96I |
probably benign |
Het |
Cdt1 |
G |
A |
8: 123,298,719 (GRCm39) |
R452Q |
probably damaging |
Het |
Clcn7 |
C |
T |
17: 25,372,667 (GRCm39) |
H149Y |
|
Het |
Clpp |
T |
G |
17: 57,297,421 (GRCm39) |
W32G |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,819,785 (GRCm39) |
L1572M |
probably damaging |
Het |
Drd3 |
G |
T |
16: 43,627,741 (GRCm39) |
R128S |
probably damaging |
Het |
Elmo2 |
A |
T |
2: 165,146,849 (GRCm39) |
F243I |
possibly damaging |
Het |
Endou |
G |
A |
15: 97,618,126 (GRCm39) |
P128L |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,908,214 (GRCm39) |
M2596T |
probably benign |
Het |
Fbxl16 |
A |
G |
17: 26,035,703 (GRCm39) |
K100R |
probably benign |
Het |
Fbxo10 |
A |
G |
4: 45,062,230 (GRCm39) |
S99P |
possibly damaging |
Het |
Fez1 |
A |
T |
9: 36,778,999 (GRCm39) |
R225S |
probably benign |
Het |
Gm14326 |
A |
T |
2: 177,588,464 (GRCm39) |
H177Q |
probably damaging |
Het |
Gm32742 |
T |
A |
9: 51,054,546 (GRCm39) |
M1360L |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,271,677 (GRCm39) |
V2481A |
possibly damaging |
Het |
Ifnl3 |
A |
G |
7: 28,223,283 (GRCm39) |
K101E |
probably benign |
Het |
Il15 |
A |
T |
8: 83,064,204 (GRCm39) |
S77R |
probably damaging |
Het |
Ints13 |
T |
C |
6: 146,476,216 (GRCm39) |
D95G |
probably damaging |
Het |
Kcmf1 |
G |
A |
6: 72,819,929 (GRCm39) |
P357S |
probably benign |
Het |
Kcmf1 |
G |
T |
6: 72,825,289 (GRCm39) |
T268K |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,748,153 (GRCm39) |
I3057N |
unknown |
Het |
Lgi2 |
A |
G |
5: 52,695,832 (GRCm39) |
F376L |
probably damaging |
Het |
Lrig3 |
T |
G |
10: 125,832,993 (GRCm39) |
L289R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,785,876 (GRCm39) |
S25G |
probably benign |
Het |
Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
Nalcn |
A |
C |
14: 123,515,761 (GRCm39) |
I1680R |
probably benign |
Het |
Or13d1 |
C |
T |
4: 52,971,470 (GRCm39) |
P283L |
probably damaging |
Het |
Or5ak24 |
T |
A |
2: 85,260,902 (GRCm39) |
K90N |
probably benign |
Het |
Or5g26 |
C |
T |
2: 85,494,518 (GRCm39) |
V87M |
possibly damaging |
Het |
Or5p62 |
A |
T |
7: 107,771,701 (GRCm39) |
N83K |
probably benign |
Het |
Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
Oxgr1 |
A |
G |
14: 120,259,614 (GRCm39) |
Y198H |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,784,559 (GRCm39) |
N645I |
probably damaging |
Het |
Pbld2 |
A |
G |
10: 62,889,691 (GRCm39) |
T158A |
probably benign |
Het |
Pdgfrb |
C |
T |
18: 61,206,315 (GRCm39) |
R608C |
probably damaging |
Het |
Pdia5 |
T |
C |
16: 35,228,049 (GRCm39) |
T408A |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,226,845 (GRCm39) |
V1014A |
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,399,374 (GRCm39) |
T2180A |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,551,742 (GRCm39) |
Y245* |
probably null |
Het |
Rerg |
T |
C |
6: 137,044,033 (GRCm39) |
T28A |
possibly damaging |
Het |
Rhcg |
A |
G |
7: 79,249,216 (GRCm39) |
I335T |
probably damaging |
Het |
Rmnd1 |
C |
T |
10: 4,353,873 (GRCm39) |
V78I |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,664,662 (GRCm39) |
V3547G |
probably benign |
Het |
Scnn1a |
C |
A |
6: 125,314,770 (GRCm39) |
Q324K |
probably benign |
Het |
Serpinb6e |
G |
A |
13: 34,016,698 (GRCm39) |
T345I |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,668,955 (GRCm39) |
T1687A |
probably benign |
Het |
Smim45 |
A |
T |
15: 82,136,774 (GRCm39) |
|
probably benign |
Het |
Speer4f2 |
A |
C |
5: 17,581,661 (GRCm39) |
H201P |
|
Het |
Spef2 |
G |
A |
15: 9,725,257 (GRCm39) |
R167C |
probably damaging |
Het |
Srp68 |
A |
G |
11: 116,162,733 (GRCm39) |
|
probably null |
Het |
Tbc1d14 |
A |
T |
5: 36,669,884 (GRCm39) |
F455I |
probably benign |
Het |
Tet3 |
A |
G |
6: 83,432,006 (GRCm39) |
V10A |
possibly damaging |
Het |
Tlr3 |
A |
T |
8: 45,850,810 (GRCm39) |
S696T |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,978,709 (GRCm39) |
N300S |
probably benign |
Het |
Tmprss11g |
T |
C |
5: 86,637,150 (GRCm39) |
I328M |
probably damaging |
Het |
Tpm3 |
C |
T |
3: 89,980,029 (GRCm39) |
|
probably benign |
Het |
Trim28 |
T |
A |
7: 12,758,833 (GRCm39) |
L63Q |
probably damaging |
Het |
Unc5b |
G |
A |
10: 60,613,265 (GRCm39) |
R324C |
probably damaging |
Het |
Vmn1r236 |
T |
A |
17: 21,507,204 (GRCm39) |
N107K |
possibly damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,656,100 (GRCm39) |
T770A |
|
Het |
Zcchc2 |
C |
A |
1: 105,958,211 (GRCm39) |
P894Q |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,229 (GRCm39) |
V1585A |
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 |
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 |
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'- CTCCTACTACCAGCTGATGCAC -3'
(R):5'- TGCATATGCTCACCCCTGTG -3'
Sequencing Primer
(F):5'- ACAGTACGCATCTCACGT -3'
(R):5'- TGGGTGCTGCCTCAGAG -3'
|
Posted On |
2019-05-15 |