Incidental Mutation 'IGL02041:Arhgap20'
ID |
184748 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap20
|
Ensembl Gene |
ENSMUSG00000053199 |
Gene Name |
Rho GTPase activating protein 20 |
Synonyms |
6530403F17Rik, A530023E23Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.329)
|
Stock # |
IGL02041
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51757490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 494
(N494I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
AlphaFold |
Q6IFT4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065496
AA Change: N494I
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000065633 Gene: ENSMUSG00000053199 AA Change: N494I
Domain | Start | End | E-Value | Type |
PH
|
86 |
187 |
3.31e-5 |
SMART |
Pfam:RA
|
194 |
283 |
3.6e-15 |
PFAM |
RhoGAP
|
374 |
548 |
1.27e-41 |
SMART |
internal_repeat_1
|
655 |
779 |
9.97e-15 |
PROSPERO |
internal_repeat_1
|
797 |
922 |
9.97e-15 |
PROSPERO |
low complexity region
|
935 |
962 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130086
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130405
AA Change: N458I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000120124 Gene: ENSMUSG00000053199 AA Change: N458I
Domain | Start | End | E-Value | Type |
PH
|
50 |
151 |
3.31e-5 |
SMART |
Pfam:RA
|
158 |
247 |
3.3e-14 |
PFAM |
RhoGAP
|
338 |
512 |
1.27e-41 |
SMART |
internal_repeat_1
|
619 |
743 |
7.07e-15 |
PROSPERO |
internal_repeat_1
|
761 |
886 |
7.07e-15 |
PROSPERO |
low complexity region
|
899 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152203
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,772,674 (GRCm39) |
Q28L |
probably damaging |
Het |
Abtb3 |
G |
A |
10: 85,223,418 (GRCm39) |
D76N |
unknown |
Het |
Afg1l |
A |
G |
10: 42,330,376 (GRCm39) |
V97A |
probably damaging |
Het |
Akap6 |
A |
C |
12: 53,187,436 (GRCm39) |
S1617R |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,057,579 (GRCm39) |
N285D |
probably damaging |
Het |
Atg9a |
G |
T |
1: 75,159,748 (GRCm39) |
Q712K |
possibly damaging |
Het |
Cdcp2 |
G |
A |
4: 106,964,386 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
A |
2: 132,136,363 (GRCm39) |
I84N |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,376,187 (GRCm39) |
I596V |
probably damaging |
Het |
Ctxn1 |
A |
G |
8: 4,308,514 (GRCm39) |
L39P |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,733,287 (GRCm39) |
V528D |
probably damaging |
Het |
Fmod |
T |
G |
1: 133,968,001 (GRCm39) |
S14A |
probably benign |
Het |
Foxh1 |
A |
G |
15: 76,553,120 (GRCm39) |
F198S |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,105,103 (GRCm39) |
E77G |
probably damaging |
Het |
Gm5420 |
G |
T |
10: 21,566,933 (GRCm39) |
|
noncoding transcript |
Het |
Gm6434 |
T |
G |
7: 25,581,655 (GRCm39) |
|
noncoding transcript |
Het |
Il1b |
A |
T |
2: 129,211,662 (GRCm39) |
N19K |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 26,860,322 (GRCm39) |
D3055V |
probably damaging |
Het |
Lcn3 |
G |
A |
2: 25,655,636 (GRCm39) |
V18I |
probably benign |
Het |
Lpcat2 |
A |
G |
8: 93,644,809 (GRCm39) |
S533G |
probably benign |
Het |
Map4k2 |
G |
A |
19: 6,401,348 (GRCm39) |
R606Q |
probably benign |
Het |
Mtnr1b |
T |
C |
9: 15,774,589 (GRCm39) |
T157A |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,397,689 (GRCm39) |
E2705K |
probably damaging |
Het |
Ncf2 |
A |
G |
1: 152,711,871 (GRCm39) |
|
probably benign |
Het |
Nfkbil1 |
G |
A |
17: 35,439,934 (GRCm39) |
T193M |
probably benign |
Het |
Nmi |
T |
G |
2: 51,850,641 (GRCm39) |
K9T |
possibly damaging |
Het |
Or2d4 |
T |
C |
7: 106,543,320 (GRCm39) |
D296G |
possibly damaging |
Het |
Or5p69 |
T |
C |
7: 107,966,742 (GRCm39) |
F15S |
probably damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,104 (GRCm39) |
D119G |
probably damaging |
Het |
Osbpl7 |
T |
A |
11: 96,951,334 (GRCm39) |
C502S |
probably benign |
Het |
Pex5 |
A |
T |
6: 124,382,240 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,356,452 (GRCm39) |
|
probably null |
Het |
Prmt3 |
C |
T |
7: 49,478,711 (GRCm39) |
T424M |
possibly damaging |
Het |
Rapgef4 |
G |
A |
2: 72,029,140 (GRCm39) |
G404D |
probably damaging |
Het |
Rbm5 |
C |
T |
9: 107,633,045 (GRCm39) |
|
probably benign |
Het |
Rfc2 |
T |
A |
5: 134,623,098 (GRCm39) |
F238L |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,324,612 (GRCm39) |
E46G |
probably damaging |
Het |
Sall1 |
A |
G |
8: 89,758,097 (GRCm39) |
F669S |
probably damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,218,558 (GRCm39) |
S260P |
probably benign |
Het |
Slc26a8 |
A |
G |
17: 28,861,225 (GRCm39) |
Y820H |
probably damaging |
Het |
Tas2r115 |
A |
G |
6: 132,714,430 (GRCm39) |
F174L |
probably benign |
Het |
Terb1 |
A |
C |
8: 105,221,746 (GRCm39) |
C185G |
probably damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,683,398 (GRCm39) |
V602E |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,423,391 (GRCm39) |
R237L |
probably damaging |
Het |
Zfp865 |
T |
C |
7: 5,034,372 (GRCm39) |
S786P |
probably benign |
Het |
|
Other mutations in Arhgap20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Arhgap20
|
APN |
9 |
51,760,713 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01542:Arhgap20
|
APN |
9 |
51,750,187 (GRCm39) |
missense |
probably benign |
|
IGL01815:Arhgap20
|
APN |
9 |
51,757,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01975:Arhgap20
|
APN |
9 |
51,761,097 (GRCm39) |
nonsense |
probably null |
|
IGL02557:Arhgap20
|
APN |
9 |
51,732,573 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02602:Arhgap20
|
APN |
9 |
51,737,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Arhgap20
|
APN |
9 |
51,759,945 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02792:Arhgap20
|
APN |
9 |
51,761,218 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03166:Arhgap20
|
APN |
9 |
51,761,077 (GRCm39) |
missense |
possibly damaging |
0.63 |
P0047:Arhgap20
|
UTSW |
9 |
51,760,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Arhgap20
|
UTSW |
9 |
51,750,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R0121:Arhgap20
|
UTSW |
9 |
51,750,251 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0539:Arhgap20
|
UTSW |
9 |
51,761,455 (GRCm39) |
missense |
probably benign |
0.01 |
R0541:Arhgap20
|
UTSW |
9 |
51,760,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R0551:Arhgap20
|
UTSW |
9 |
51,737,125 (GRCm39) |
splice site |
probably benign |
|
R0570:Arhgap20
|
UTSW |
9 |
51,751,751 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0630:Arhgap20
|
UTSW |
9 |
51,760,684 (GRCm39) |
missense |
probably damaging |
0.98 |
R0931:Arhgap20
|
UTSW |
9 |
51,728,041 (GRCm39) |
missense |
probably benign |
0.30 |
R0992:Arhgap20
|
UTSW |
9 |
51,728,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R1052:Arhgap20
|
UTSW |
9 |
51,757,570 (GRCm39) |
missense |
probably damaging |
0.98 |
R1779:Arhgap20
|
UTSW |
9 |
51,761,215 (GRCm39) |
missense |
probably benign |
|
R1839:Arhgap20
|
UTSW |
9 |
51,760,626 (GRCm39) |
missense |
probably damaging |
0.99 |
R1942:Arhgap20
|
UTSW |
9 |
51,742,998 (GRCm39) |
missense |
probably benign |
0.43 |
R2292:Arhgap20
|
UTSW |
9 |
51,760,743 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3896:Arhgap20
|
UTSW |
9 |
51,728,137 (GRCm39) |
missense |
probably damaging |
0.96 |
R4109:Arhgap20
|
UTSW |
9 |
51,727,985 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4166:Arhgap20
|
UTSW |
9 |
51,738,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4631:Arhgap20
|
UTSW |
9 |
51,751,653 (GRCm39) |
intron |
probably benign |
|
R4692:Arhgap20
|
UTSW |
9 |
51,697,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R5273:Arhgap20
|
UTSW |
9 |
51,759,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5505:Arhgap20
|
UTSW |
9 |
51,750,248 (GRCm39) |
missense |
probably damaging |
0.98 |
R5743:Arhgap20
|
UTSW |
9 |
51,728,027 (GRCm39) |
missense |
probably benign |
0.17 |
R5847:Arhgap20
|
UTSW |
9 |
51,736,276 (GRCm39) |
intron |
probably benign |
|
R6006:Arhgap20
|
UTSW |
9 |
51,761,426 (GRCm39) |
missense |
probably benign |
|
R6112:Arhgap20
|
UTSW |
9 |
51,740,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R6355:Arhgap20
|
UTSW |
9 |
51,755,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Arhgap20
|
UTSW |
9 |
51,760,578 (GRCm39) |
missense |
probably benign |
0.03 |
R6801:Arhgap20
|
UTSW |
9 |
51,759,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7130:Arhgap20
|
UTSW |
9 |
51,761,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R7318:Arhgap20
|
UTSW |
9 |
51,751,802 (GRCm39) |
missense |
probably benign |
|
R7347:Arhgap20
|
UTSW |
9 |
51,760,335 (GRCm39) |
missense |
probably benign |
0.07 |
R7500:Arhgap20
|
UTSW |
9 |
51,751,802 (GRCm39) |
missense |
probably benign |
|
R7598:Arhgap20
|
UTSW |
9 |
51,761,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7677:Arhgap20
|
UTSW |
9 |
51,751,698 (GRCm39) |
missense |
probably damaging |
0.97 |
R7725:Arhgap20
|
UTSW |
9 |
51,743,050 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8086:Arhgap20
|
UTSW |
9 |
51,760,563 (GRCm39) |
missense |
probably benign |
0.00 |
R8122:Arhgap20
|
UTSW |
9 |
51,761,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R8125:Arhgap20
|
UTSW |
9 |
51,738,209 (GRCm39) |
missense |
probably damaging |
0.99 |
R8196:Arhgap20
|
UTSW |
9 |
51,760,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8783:Arhgap20
|
UTSW |
9 |
51,727,967 (GRCm39) |
splice site |
probably benign |
|
R8972:Arhgap20
|
UTSW |
9 |
51,760,311 (GRCm39) |
missense |
probably benign |
0.03 |
R9027:Arhgap20
|
UTSW |
9 |
51,754,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R9427:Arhgap20
|
UTSW |
9 |
51,754,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Arhgap20
|
UTSW |
9 |
51,761,413 (GRCm39) |
frame shift |
probably null |
|
R9741:Arhgap20
|
UTSW |
9 |
51,760,730 (GRCm39) |
nonsense |
probably null |
|
Z1177:Arhgap20
|
UTSW |
9 |
51,736,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |