Incidental Mutation 'R6112:Arhgap20'
| ID |
484911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
044261-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R6112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51740684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 219
(Y219H)
|
| 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: Y255H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: Y255H
| 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: ENSMUST00000126567
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130405
AA Change: Y219H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: Y219H
| 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: ENSMUST00000146509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152203
|
| Meta Mutation Damage Score |
0.1534 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,278,780 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Adh5 |
G |
T |
3: 138,157,029 (GRCm39) |
V197F |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,684 (GRCm39) |
F936I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,625 (GRCm39) |
D710V |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,134,902 (GRCm39) |
E622G |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,143,556 (GRCm39) |
D184G |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,300,072 (GRCm39) |
A2216T |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,971,205 (GRCm39) |
|
probably null |
Het |
| Cep250 |
C |
A |
2: 155,836,503 (GRCm39) |
L2211I |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,942,298 (GRCm39) |
I1752T |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,431,604 (GRCm39) |
V1560A |
unknown |
Het |
| Dapk3 |
A |
T |
10: 81,019,864 (GRCm39) |
Q6L |
probably benign |
Het |
| Dctn5 |
A |
G |
7: 121,732,460 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,330 (GRCm39) |
I182N |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,954,955 (GRCm39) |
F346S |
probably damaging |
Het |
| Erap1 |
G |
T |
13: 74,794,398 (GRCm39) |
W19L |
probably benign |
Het |
| Gm10801 |
A |
G |
2: 98,494,409 (GRCm39) |
H162R |
probably benign |
Het |
| Gpm6a |
G |
A |
8: 55,507,845 (GRCm39) |
A194T |
probably benign |
Het |
| Grip1 |
C |
A |
10: 119,829,137 (GRCm39) |
N32K |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,494,687 (GRCm39) |
I4134T |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,499,105 (GRCm39) |
H230Y |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,414,241 (GRCm39) |
T1435A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,547,520 (GRCm39) |
V368A |
possibly damaging |
Het |
| Lmna |
C |
A |
3: 88,393,928 (GRCm39) |
E217* |
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,231,894 (GRCm39) |
G337E |
probably benign |
Het |
| Maf1 |
A |
G |
15: 76,236,312 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,722,571 (GRCm39) |
I436V |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,157 (GRCm39) |
T3123I |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,042 (GRCm39) |
H3329Q |
probably benign |
Het |
| Noa1 |
C |
T |
5: 77,457,593 (GRCm39) |
R104Q |
probably benign |
Het |
| Odc1 |
T |
G |
12: 17,599,473 (GRCm39) |
S267A |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,724,369 (GRCm39) |
I34F |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Pamr1 |
T |
C |
2: 102,441,953 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,802,612 (GRCm39) |
I152N |
probably damaging |
Het |
| Pigt |
C |
T |
2: 164,348,365 (GRCm39) |
Q437* |
probably null |
Het |
| Prx |
T |
C |
7: 27,215,973 (GRCm39) |
L158P |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,600,922 (GRCm39) |
T152S |
probably benign |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,290 (GRCm39) |
I404T |
probably benign |
Het |
| Radil |
C |
T |
5: 142,529,399 (GRCm39) |
R99H |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,268,899 (GRCm39) |
V856I |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,664 (GRCm39) |
V115E |
probably damaging |
Het |
| Snx3 |
C |
A |
10: 42,402,042 (GRCm39) |
S85R |
probably benign |
Het |
| Sppl2c |
A |
T |
11: 104,077,963 (GRCm39) |
E254D |
probably benign |
Het |
| Srms |
C |
A |
2: 180,849,780 (GRCm39) |
E237* |
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,805 (GRCm39) |
L2514P |
probably damaging |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Usp4 |
A |
G |
9: 108,233,703 (GRCm39) |
Y108C |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,847 (GRCm39) |
I737F |
probably damaging |
Het |
| Zfp600 |
A |
T |
4: 146,131,701 (GRCm39) |
H123L |
probably benign |
Het |
| Zfp646 |
G |
T |
7: 127,478,190 (GRCm39) |
R122S |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,880,126 (GRCm39) |
Y553H |
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 |
|
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 |
|
|
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'- AGGAATGAGTACTACTACCCCGC -3'
(R):5'- AAAGGCTTGGTAAGATCTGCTTG -3'
Sequencing Primer
(F):5'- GAGTACTACTACCCCGCCCAAG -3'
(R):5'- AGGCTTGGTAAGATCTGCTTGTAAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation