Incidental Mutation 'IGL03166:Arhgap20'
| ID |
411620 |
| 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 # |
IGL03166
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51761077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 940
(I940K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
| AlphaFold |
Q6IFT4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065496
AA Change: I976K
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: I976K
| 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: I940K
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: I940K
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,429,264 (GRCm39) |
A40D |
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 103,023,552 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,172,308 (GRCm39) |
T2103A |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,739,346 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,549,938 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,827,616 (GRCm39) |
C160S |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,657,452 (GRCm39) |
L908H |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,222 (GRCm39) |
A216S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,047 (GRCm39) |
V80A |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,915,626 (GRCm39) |
I370V |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,080,047 (GRCm39) |
C11* |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,001,050 (GRCm39) |
H2058L |
probably damaging |
Het |
| Lrp3 |
G |
T |
7: 34,901,905 (GRCm39) |
L659I |
probably benign |
Het |
| Lrrc8a |
T |
G |
2: 30,145,377 (GRCm39) |
S64A |
probably benign |
Het |
| Lsr |
C |
T |
7: 30,661,522 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Man2c1 |
T |
A |
9: 57,046,382 (GRCm39) |
V479E |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,254,586 (GRCm39) |
D462E |
probably benign |
Het |
| Mx2 |
T |
C |
16: 97,347,990 (GRCm39) |
I205T |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,052,517 (GRCm39) |
|
probably benign |
Het |
| Optc |
C |
T |
1: 133,831,530 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,254 (GRCm39) |
N319D |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,262,831 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,288,940 (GRCm39) |
E820G |
probably damaging |
Het |
| Pkp1 |
A |
T |
1: 135,805,862 (GRCm39) |
M612K |
probably damaging |
Het |
| Pno1 |
T |
A |
11: 17,154,513 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,697,606 (GRCm39) |
Q35R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,471,457 (GRCm39) |
Y4564* |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,122,186 (GRCm39) |
I140V |
probably damaging |
Het |
| Slc43a1 |
T |
C |
2: 84,687,700 (GRCm39) |
I419T |
possibly damaging |
Het |
| Sltm |
C |
A |
9: 70,450,251 (GRCm39) |
A17E |
possibly damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,468,842 (GRCm39) |
D125G |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,933 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
G |
T |
17: 45,234,106 (GRCm39) |
A48S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,965 (GRCm39) |
F72L |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,345,388 (GRCm39) |
E15G |
probably benign |
Het |
| Tubb4b-ps1 |
A |
T |
5: 7,229,965 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,331 (GRCm39) |
T651A |
probably benign |
Het |
| Wdr76 |
G |
T |
2: 121,364,787 (GRCm39) |
V462F |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,520 (GRCm39) |
G1112* |
probably null |
Het |
| Zfp868 |
A |
C |
8: 70,064,965 (GRCm39) |
C123W |
probably damaging |
Het |
| Zyg11b |
T |
A |
4: 108,123,086 (GRCm39) |
M294L |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation