Incidental Mutation 'R0541:Arhgap20'
ID |
49916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap20
|
Ensembl Gene |
ENSMUSG00000053199 |
Gene Name |
Rho GTPase activating protein 20 |
Synonyms |
6530403F17Rik, A530023E23Rik |
MMRRC Submission |
038733-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.329)
|
Stock # |
R0541 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 51760963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 902
(S902I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120124
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
AlphaFold |
Q6IFT4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065496
AA Change: S938I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065633 Gene: ENSMUSG00000053199 AA Change: S938I
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 |
probably damaging
Transcript: ENSMUST00000130405
AA Change: S902I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120124 Gene: ENSMUSG00000053199 AA Change: S902I
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
96% (64/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,872 (GRCm39) |
M115V |
probably benign |
Het |
4933415A04Rik |
TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,227 (GRCm39) |
|
probably null |
Het |
Abca7 |
C |
T |
10: 79,843,185 (GRCm39) |
A1220V |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,060,372 (GRCm39) |
|
probably null |
Het |
Agbl1 |
G |
A |
7: 76,058,993 (GRCm39) |
V194M |
probably benign |
Het |
Atp11b |
T |
G |
3: 35,861,093 (GRCm39) |
D193E |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,535,430 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,723,496 (GRCm39) |
E7G |
possibly damaging |
Het |
Camta2 |
A |
G |
11: 70,572,447 (GRCm39) |
L259P |
probably benign |
Het |
Ccni |
T |
C |
5: 93,335,563 (GRCm39) |
N192D |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,558,535 (GRCm39) |
I946T |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,068,548 (GRCm39) |
|
probably null |
Het |
Cntn5 |
A |
G |
9: 9,673,407 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
C |
T |
16: 30,078,169 (GRCm39) |
G511S |
possibly damaging |
Het |
Dagla |
C |
A |
19: 10,232,170 (GRCm39) |
|
probably null |
Het |
Dcc |
T |
C |
18: 71,392,086 (GRCm39) |
N1440S |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,907,474 (GRCm39) |
N1069K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,616,060 (GRCm39) |
T812A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,747,471 (GRCm39) |
I238V |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,852,882 (GRCm39) |
T1288A |
unknown |
Het |
Fastkd1 |
A |
C |
2: 69,532,750 (GRCm39) |
L539R |
probably damaging |
Het |
Fbln7 |
G |
A |
2: 128,719,454 (GRCm39) |
|
probably benign |
Het |
Fbxo39 |
A |
G |
11: 72,209,297 (GRCm39) |
I386V |
probably benign |
Het |
Gm17430 |
T |
C |
18: 9,726,267 (GRCm39) |
K135R |
probably damaging |
Het |
Gm3646 |
T |
A |
1: 39,843,483 (GRCm39) |
T8S |
unknown |
Het |
Gtsf1 |
A |
T |
15: 103,329,619 (GRCm39) |
V100E |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,876,618 (GRCm39) |
F1292S |
possibly damaging |
Het |
Igf2bp3 |
G |
A |
6: 49,084,401 (GRCm39) |
|
probably benign |
Het |
Ip6k2 |
T |
G |
9: 108,681,826 (GRCm39) |
D252E |
probably damaging |
Het |
Iqck |
T |
A |
7: 118,514,817 (GRCm39) |
L232Q |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,806,001 (GRCm39) |
V186A |
probably damaging |
Het |
Klhl6 |
T |
A |
16: 19,768,197 (GRCm39) |
|
probably null |
Het |
Lao1 |
C |
T |
4: 118,820,999 (GRCm39) |
T75I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,855,878 (GRCm39) |
F2400L |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,780,997 (GRCm39) |
S388T |
possibly damaging |
Het |
Mmp11 |
G |
T |
10: 75,762,767 (GRCm39) |
H229N |
probably damaging |
Het |
Myh7 |
T |
G |
14: 55,212,158 (GRCm39) |
I1529L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 126,623,459 (GRCm39) |
D11E |
possibly damaging |
Het |
Ncoa1 |
A |
T |
12: 4,373,033 (GRCm39) |
F123I |
probably damaging |
Het |
Nelfb |
A |
T |
2: 25,093,992 (GRCm39) |
D385E |
probably benign |
Het |
Obscn |
C |
T |
11: 58,972,810 (GRCm39) |
V2288M |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,154 (GRCm39) |
H56R |
probably damaging |
Het |
Or4d6 |
C |
T |
19: 12,086,884 (GRCm39) |
V9M |
possibly damaging |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
Otog |
T |
A |
7: 45,918,673 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
A |
G |
14: 54,605,646 (GRCm39) |
E375G |
possibly damaging |
Het |
Pan2 |
T |
A |
10: 128,144,091 (GRCm39) |
I129K |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,426,616 (GRCm39) |
I919M |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,885,305 (GRCm39) |
Y174H |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,473,928 (GRCm39) |
F169S |
probably damaging |
Het |
Rab10 |
T |
C |
12: 3,314,743 (GRCm39) |
D45G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,185,107 (GRCm39) |
S1537P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,733,229 (GRCm39) |
I589F |
probably damaging |
Het |
Stmn4 |
A |
C |
14: 66,595,388 (GRCm39) |
I165L |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,727,301 (GRCm39) |
M177T |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,491,486 (GRCm39) |
|
probably null |
Het |
Tmem192 |
T |
C |
8: 65,416,912 (GRCm39) |
Y168H |
probably damaging |
Het |
Ttc21a |
C |
T |
9: 119,785,892 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,446,663 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
G |
11: 87,972,403 (GRCm39) |
M255V |
possibly damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,816,786 (GRCm39) |
F265S |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,681,941 (GRCm39) |
S1021P |
probably benign |
Het |
Wfdc16 |
T |
C |
2: 164,477,773 (GRCm39) |
E92G |
possibly damaging |
Het |
Zkscan2 |
T |
C |
7: 123,079,423 (GRCm39) |
T845A |
possibly damaging |
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 |
|
IGL02041:Arhgap20
|
APN |
9 |
51,757,490 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGCATGGGGAGGACGACTATC -3'
(R):5'- ACTCCAGAGGCTCTTTCAGGGAAC -3'
Sequencing Primer
(F):5'- CTCAGAAGGCATAAGTCTTTGC -3'
(R):5'- GAGGGACCAGTTTTTTAAAGTGACC -3'
|
Posted On |
2013-06-12 |