Incidental Mutation 'IGL00815:Arhgap20'
| ID |
9018 |
| 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 # |
IGL00815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51760713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 819
(N819D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
| AlphaFold |
Q6IFT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065496
AA Change: N855D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: N855D
| 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 benign
Transcript: ENSMUST00000130405
AA Change: N819D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: N819D
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
| Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
| Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
| Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
probably benign |
Het |
|
| Other mutations in Arhgap20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation