Incidental Mutation 'R6006:Arhgap20'
ID |
479484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap20
|
Ensembl Gene |
ENSMUSG00000053199 |
Gene Name |
Rho GTPase activating protein 20 |
Synonyms |
6530403F17Rik, A530023E23Rik |
MMRRC Submission |
044183-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.332)
|
Stock # |
R6006 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51761426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1056
(D1056E)
|
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: D1092E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000065633 Gene: ENSMUSG00000053199 AA Change: D1092E
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: D1056E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120124 Gene: ENSMUSG00000053199 AA Change: D1056E
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
A |
G |
8: 124,694,804 (GRCm39) |
I296T |
probably benign |
Het |
Abcb4 |
C |
A |
5: 8,996,026 (GRCm39) |
T894K |
probably damaging |
Het |
Acad12 |
C |
T |
5: 121,737,299 (GRCm39) |
V491I |
possibly damaging |
Het |
Actr8 |
T |
A |
14: 29,706,099 (GRCm39) |
|
probably null |
Het |
Adam7 |
A |
C |
14: 68,748,845 (GRCm39) |
D467E |
probably damaging |
Het |
Adamts18 |
A |
T |
8: 114,433,606 (GRCm39) |
C1043S |
probably damaging |
Het |
Adgrb3 |
T |
G |
1: 25,865,612 (GRCm39) |
D77A |
possibly damaging |
Het |
Bco1 |
A |
G |
8: 117,840,330 (GRCm39) |
|
probably null |
Het |
Btn2a2 |
A |
T |
13: 23,670,533 (GRCm39) |
W67R |
probably damaging |
Het |
Camkmt |
A |
T |
17: 85,759,666 (GRCm39) |
N269Y |
possibly damaging |
Het |
Cand1 |
A |
G |
10: 119,045,933 (GRCm39) |
F991L |
possibly damaging |
Het |
Cchcr1 |
A |
G |
17: 35,835,597 (GRCm39) |
K234E |
possibly damaging |
Het |
Cd14 |
T |
C |
18: 36,859,335 (GRCm39) |
D40G |
possibly damaging |
Het |
Cdc73 |
A |
T |
1: 143,493,177 (GRCm39) |
F386I |
probably damaging |
Het |
Cdk14 |
C |
T |
5: 5,299,211 (GRCm39) |
M1I |
probably null |
Het |
Cnpy3 |
A |
C |
17: 47,047,790 (GRCm39) |
S220A |
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,845,685 (GRCm39) |
V359A |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,696,105 (GRCm39) |
C2654F |
unknown |
Het |
Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
Cpsf4l |
A |
G |
11: 113,590,753 (GRCm39) |
V199A |
probably benign |
Het |
Dhtkd1 |
G |
A |
2: 5,908,836 (GRCm39) |
Q753* |
probably null |
Het |
Ep400 |
A |
G |
5: 110,852,825 (GRCm39) |
S1307P |
unknown |
Het |
Fer1l6 |
T |
C |
15: 58,518,893 (GRCm39) |
V1675A |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,425,103 (GRCm39) |
L238P |
probably damaging |
Het |
Ift70a1 |
A |
G |
2: 75,811,832 (GRCm39) |
Y84H |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,998,854 (GRCm39) |
D318E |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,581,359 (GRCm39) |
F715L |
probably damaging |
Het |
Mlxip |
T |
C |
5: 123,583,721 (GRCm39) |
F428S |
possibly damaging |
Het |
Morc3 |
T |
G |
16: 93,663,381 (GRCm39) |
I528R |
possibly damaging |
Het |
Mtx1 |
C |
T |
3: 89,117,613 (GRCm39) |
G60D |
probably damaging |
Het |
Mug2 |
G |
C |
6: 122,060,459 (GRCm39) |
Q1398H |
probably null |
Het |
Mup8 |
T |
C |
4: 60,220,403 (GRCm39) |
I110V |
probably benign |
Het |
Nfkb1 |
A |
T |
3: 135,309,522 (GRCm39) |
L12* |
probably null |
Het |
Numa1 |
G |
A |
7: 101,641,926 (GRCm39) |
|
probably null |
Het |
Or52e18 |
T |
G |
7: 104,609,870 (GRCm39) |
E23A |
probably damaging |
Het |
Pbk |
C |
T |
14: 66,054,094 (GRCm39) |
P213L |
probably damaging |
Het |
Pdcd1lg2 |
T |
A |
19: 29,431,905 (GRCm39) |
H224Q |
possibly damaging |
Het |
Pkp1 |
C |
G |
1: 135,805,406 (GRCm39) |
|
probably null |
Het |
Rela |
A |
G |
19: 5,689,967 (GRCm39) |
N139S |
probably damaging |
Het |
Rgs3 |
G |
A |
4: 62,542,143 (GRCm39) |
R39Q |
probably damaging |
Het |
S1pr3 |
A |
G |
13: 51,573,731 (GRCm39) |
E304G |
probably damaging |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Setmar |
T |
C |
6: 108,053,387 (GRCm39) |
S294P |
possibly damaging |
Het |
Smc2 |
A |
G |
4: 52,459,024 (GRCm39) |
N473S |
probably benign |
Het |
Ssr1 |
TCTCTTTC |
T |
13: 38,169,972 (GRCm39) |
|
probably null |
Het |
Tigd2 |
A |
G |
6: 59,187,762 (GRCm39) |
I210V |
possibly damaging |
Het |
Tmprss9 |
T |
A |
10: 80,719,555 (GRCm39) |
F93L |
possibly damaging |
Het |
U2surp |
T |
C |
9: 95,361,360 (GRCm39) |
Y633C |
probably damaging |
Het |
Usp18 |
A |
T |
6: 121,239,781 (GRCm39) |
E292V |
possibly damaging |
Het |
Usp32 |
A |
C |
11: 84,883,277 (GRCm39) |
|
probably null |
Het |
Utp18 |
T |
C |
11: 93,776,449 (GRCm39) |
D12G |
probably benign |
Het |
Vmn1r216 |
C |
A |
13: 23,283,928 (GRCm39) |
H204N |
probably benign |
Het |
Wdr97 |
T |
C |
15: 76,241,372 (GRCm39) |
V626A |
probably damaging |
Het |
Wwc1 |
A |
T |
11: 35,761,809 (GRCm39) |
V619E |
probably null |
Het |
Wwc1 |
T |
C |
11: 35,780,100 (GRCm39) |
D285G |
probably damaging |
Het |
Zfp3 |
A |
T |
11: 70,662,590 (GRCm39) |
Q183L |
probably benign |
Het |
Zfp955a |
A |
G |
17: 33,460,660 (GRCm39) |
C491R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCATCACAAATGCATTCTGTAAC -3'
(R):5'- TTGAAGAGGCTCCTTCCCAAG -3'
Sequencing Primer
(F):5'- AAATGCATTCTGTAACCCTTCAC -3'
(R):5'- TTCCCAAGGGTTATCACAAGGGTAC -3'
|
Posted On |
2017-06-26 |