Incidental Mutation 'R9741:Arhgap20'
| ID |
731839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R9741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 51760730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 860
(Y860*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
| AlphaFold |
Q6IFT4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065496
AA Change: Y860*
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: Y860*
| 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 |
probably null
Transcript: ENSMUST00000130405
AA Change: Y824*
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: Y824*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,860,339 (GRCm39) |
K35* |
probably null |
Het |
| Apoc3 |
G |
T |
9: 46,145,998 (GRCm39) |
T5K |
unknown |
Het |
| Arhgef11 |
T |
C |
3: 87,595,156 (GRCm39) |
S123P |
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,008,081 (GRCm39) |
I464T |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,169,385 (GRCm39) |
Y827F |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,484,695 (GRCm39) |
T122A |
probably benign |
Het |
| Btbd6 |
T |
A |
12: 112,940,923 (GRCm39) |
D173E |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,932,490 (GRCm39) |
I149T |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,132,953 (GRCm39) |
R214C |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,624,114 (GRCm39) |
S372N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,676,735 (GRCm39) |
Y776* |
probably null |
Het |
| Dock9 |
A |
T |
14: 121,877,516 (GRCm39) |
I409N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,156,607 (GRCm39) |
N815K |
probably benign |
Het |
| Fbxw11 |
G |
T |
11: 32,685,358 (GRCm39) |
V398L |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,436,319 (GRCm39) |
F34S |
possibly damaging |
Het |
| Ghsr |
G |
A |
3: 27,428,898 (GRCm39) |
V308I |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| H1f10 |
A |
G |
6: 87,958,200 (GRCm39) |
Y47H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,239,962 (GRCm39) |
F510S |
probably damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,861 (GRCm39) |
V367A |
possibly damaging |
Het |
| Iars1 |
T |
G |
13: 49,844,978 (GRCm39) |
F163C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,383 (GRCm39) |
T1728A |
probably benign |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,995 (GRCm39) |
V56I |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,002,300 (GRCm39) |
I2133N |
|
Het |
| Lrrc37 |
T |
C |
11: 103,504,255 (GRCm39) |
E2571G |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,366 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52z1 |
G |
T |
7: 103,436,941 (GRCm39) |
P181H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,897,224 (GRCm39) |
T562A |
|
Het |
| Ppp1r10 |
G |
A |
17: 36,237,331 (GRCm39) |
R167Q |
possibly damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,103,725 (GRCm39) |
R69W |
probably damaging |
Het |
| Proser2 |
G |
A |
2: 6,105,580 (GRCm39) |
A328V |
probably benign |
Het |
| Rhou |
A |
G |
8: 124,380,914 (GRCm39) |
Y77C |
possibly damaging |
Het |
| Rprml |
T |
A |
11: 103,540,857 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,477,271 (GRCm39) |
C4515Y |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,306,994 (GRCm39) |
I373N |
possibly damaging |
Het |
| Snx21 |
C |
T |
2: 164,634,231 (GRCm39) |
A339V |
probably benign |
Het |
| Srpk1 |
G |
A |
17: 28,818,652 (GRCm39) |
P395S |
probably benign |
Het |
| Syt14 |
A |
T |
1: 192,666,449 (GRCm39) |
S152T |
unknown |
Het |
| Urb2 |
G |
T |
8: 124,755,751 (GRCm39) |
R486L |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,702,564 (GRCm39) |
M7L |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,708,209 (GRCm39) |
D66V |
probably damaging |
Het |
| Znrf2 |
T |
C |
6: 54,855,370 (GRCm39) |
I197T |
probably 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 |
|
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 |
|
|
Z1177:Arhgap20
|
UTSW |
9 |
51,736,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCATCTTACAGCCACG -3'
(R):5'- TTGAATAGCTTGCCCTTGGGC -3'
Sequencing Primer
(F):5'- ATCTTACAGCCACGGGTCC -3'
(R):5'- TCTTGGGGGCAAAACCTTCTCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation