Incidental Mutation 'R8125:Arhgap20'
| ID |
631708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
067554-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
R8125 (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 51738209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 235
(I235T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
| AlphaFold |
Q6IFT4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065496
AA Change: I235T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: I235T
| 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 damaging
Transcript: ENSMUST00000130405
AA Change: I199T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: I199T
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,608,709 (GRCm39) |
T143K |
probably benign |
Het |
| 4933434E20Rik |
T |
A |
3: 89,972,818 (GRCm39) |
V74D |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Adam20 |
A |
T |
8: 41,247,973 (GRCm39) |
I28L |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,541 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,989,240 (GRCm39) |
A3508V |
possibly damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,201,554 (GRCm39) |
T164A |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 86,077,817 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ccdc185 |
C |
A |
1: 182,574,835 (GRCm39) |
S618I |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,406,614 (GRCm39) |
I805K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cmtm2a |
A |
T |
8: 105,019,343 (GRCm39) |
I82N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,515,806 (GRCm39) |
H416L |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,414,089 (GRCm39) |
T909A |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,700,953 (GRCm39) |
T1218A |
unknown |
Het |
| Ebf1 |
T |
C |
11: 44,863,742 (GRCm39) |
I364T |
probably damaging |
Het |
| Efcab10 |
C |
A |
12: 33,448,313 (GRCm39) |
R49S |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,162 (GRCm39) |
|
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gm49358 |
T |
A |
10: 86,656,857 (GRCm39) |
F273Y |
|
Het |
| Gria2 |
T |
A |
3: 80,614,550 (GRCm39) |
I497F |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,331,078 (GRCm39) |
T426A |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,354,811 (GRCm39) |
I337V |
probably benign |
Het |
| Krtap19-5 |
A |
T |
16: 88,693,236 (GRCm39) |
Y25* |
probably null |
Het |
| Lamb2 |
T |
G |
9: 108,364,722 (GRCm39) |
S1159A |
probably benign |
Het |
| Mpig6b |
A |
T |
17: 35,284,328 (GRCm39) |
L154Q |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,343,594 (GRCm39) |
I118T |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,435,690 (GRCm39) |
N536K |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,894 (GRCm39) |
S729P |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,598 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,688,520 (GRCm39) |
G586W |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,570,087 (GRCm39) |
K291E |
possibly damaging |
Het |
| Nr5a1 |
C |
T |
2: 38,591,993 (GRCm39) |
V327I |
probably damaging |
Het |
| Nup85 |
TACAAGACAA |
TACAA |
11: 115,469,063 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,590,935 (GRCm39) |
H125Q |
probably benign |
Het |
| Or4f4-ps1 |
A |
T |
2: 111,330,332 (GRCm39) |
D245V |
possibly damaging |
Het |
| Or4g17 |
T |
C |
2: 111,210,086 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 61,807,143 (GRCm39) |
Y53H |
probably damaging |
Het |
| Pcyox1l |
G |
A |
18: 61,840,576 (GRCm39) |
P26L |
unknown |
Het |
| Pdzrn4 |
A |
G |
15: 92,641,476 (GRCm39) |
S391G |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,416,803 (GRCm39) |
Q459* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,241 (GRCm39) |
C556Y |
probably damaging |
Het |
| Plin1 |
A |
G |
7: 79,379,599 (GRCm39) |
F84L |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,801 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
G |
A |
12: 8,840,663 (GRCm39) |
V143I |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,278,446 (GRCm39) |
|
probably null |
Het |
| Skor2 |
C |
A |
18: 76,947,373 (GRCm39) |
A365E |
unknown |
Het |
| Slc16a7 |
A |
G |
10: 125,164,202 (GRCm39) |
|
probably null |
Het |
| Slc25a31 |
T |
A |
3: 40,663,573 (GRCm39) |
V51E |
probably damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,703,087 (GRCm39) |
F153L |
probably damaging |
Het |
| Snx7 |
T |
A |
3: 117,630,894 (GRCm39) |
K238M |
probably damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Spata31f3 |
A |
G |
4: 42,873,051 (GRCm39) |
L80P |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,241,303 (GRCm39) |
Q1587P |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,850,618 (GRCm39) |
I298T |
possibly damaging |
Het |
| Tmem247 |
A |
G |
17: 87,229,795 (GRCm39) |
Y120C |
|
Het |
| Togaram2 |
C |
G |
17: 72,023,489 (GRCm39) |
L802V |
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,199 (GRCm39) |
V252A |
probably benign |
Het |
| Ube2q2l |
T |
G |
6: 136,378,184 (GRCm39) |
R215S |
possibly damaging |
Het |
| Vat1 |
T |
C |
11: 101,351,029 (GRCm39) |
K404R |
probably benign |
Het |
| Xirp2 |
C |
A |
2: 67,342,379 (GRCm39) |
T1540K |
probably benign |
Het |
| Zc2hc1c |
C |
T |
12: 85,343,386 (GRCm39) |
H508Y |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,579,310 (GRCm39) |
M601K |
probably damaging |
Het |
| Zfp951 |
A |
T |
5: 104,963,169 (GRCm39) |
Y132* |
probably null |
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 |
|
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'- AAGCCAGACCTTACTGCTTG -3'
(R):5'- TGTGTTGTAATGCAAGGGACTATAC -3'
Sequencing Primer
(F):5'- TTGGGCTAAGAAACTACCTATCTCC -3'
(R):5'- TGCAAGGGACTATACTTACATCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation