Incidental Mutation 'R5417:Arhgap39'
ID |
427804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap39
|
Ensembl Gene |
ENSMUSG00000033697 |
Gene Name |
Rho GTPase activating protein 39 |
Synonyms |
D15Wsu169e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R5417 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76619301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 761
(V761A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000077821]
|
AlphaFold |
P59281 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036176
AA Change: V761A
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000036697 Gene: ENSMUSG00000033697 AA Change: V761A
Domain | Start | End | E-Value | Type |
WW
|
27 |
60 |
1.64e0 |
SMART |
WW
|
66 |
99 |
5.41e-1 |
SMART |
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
Pfam:MyTH4
|
759 |
904 |
2.3e-32 |
PFAM |
RhoGAP
|
932 |
1105 |
5.9e-28 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077821
AA Change: V761A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076993 Gene: ENSMUSG00000033697 AA Change: V761A
Domain | Start | End | E-Value | Type |
WW
|
27 |
60 |
1.64e0 |
SMART |
WW
|
66 |
99 |
5.41e-1 |
SMART |
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
Pfam:MyTH4
|
756 |
874 |
3.3e-25 |
PFAM |
RhoGAP
|
901 |
1074 |
5.9e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177011
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly damaging |
Het |
|
Other mutations in Arhgap39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01547:Arhgap39
|
APN |
15 |
76,622,015 (GRCm39) |
splice site |
probably benign |
|
IGL01586:Arhgap39
|
APN |
15 |
76,614,638 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01693:Arhgap39
|
APN |
15 |
76,610,167 (GRCm39) |
missense |
probably null |
1.00 |
IGL02017:Arhgap39
|
APN |
15 |
76,621,237 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02508:Arhgap39
|
APN |
15 |
76,609,184 (GRCm39) |
makesense |
probably null |
|
IGL03333:Arhgap39
|
APN |
15 |
76,610,932 (GRCm39) |
missense |
probably benign |
0.05 |
R0328:Arhgap39
|
UTSW |
15 |
76,636,152 (GRCm39) |
splice site |
probably benign |
|
R0432:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R0479:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R0549:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R0551:Arhgap39
|
UTSW |
15 |
76,619,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R1054:Arhgap39
|
UTSW |
15 |
76,635,759 (GRCm39) |
missense |
probably benign |
|
R1830:Arhgap39
|
UTSW |
15 |
76,619,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R2421:Arhgap39
|
UTSW |
15 |
76,609,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Arhgap39
|
UTSW |
15 |
76,609,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R3909:Arhgap39
|
UTSW |
15 |
76,636,088 (GRCm39) |
missense |
probably benign |
0.03 |
R4410:Arhgap39
|
UTSW |
15 |
76,609,712 (GRCm39) |
unclassified |
probably benign |
|
R4626:Arhgap39
|
UTSW |
15 |
76,621,837 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4790:Arhgap39
|
UTSW |
15 |
76,610,931 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4792:Arhgap39
|
UTSW |
15 |
76,625,717 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4911:Arhgap39
|
UTSW |
15 |
76,622,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R5225:Arhgap39
|
UTSW |
15 |
76,609,715 (GRCm39) |
unclassified |
probably benign |
|
R5443:Arhgap39
|
UTSW |
15 |
76,682,125 (GRCm39) |
intron |
probably benign |
|
R5521:Arhgap39
|
UTSW |
15 |
76,649,694 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5686:Arhgap39
|
UTSW |
15 |
76,610,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R5747:Arhgap39
|
UTSW |
15 |
76,625,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5785:Arhgap39
|
UTSW |
15 |
76,621,618 (GRCm39) |
missense |
probably benign |
|
R5879:Arhgap39
|
UTSW |
15 |
76,636,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Arhgap39
|
UTSW |
15 |
76,621,424 (GRCm39) |
nonsense |
probably null |
|
R6035:Arhgap39
|
UTSW |
15 |
76,621,424 (GRCm39) |
nonsense |
probably null |
|
R6049:Arhgap39
|
UTSW |
15 |
76,611,601 (GRCm39) |
critical splice donor site |
probably null |
|
R6143:Arhgap39
|
UTSW |
15 |
76,614,606 (GRCm39) |
nonsense |
probably null |
|
R6232:Arhgap39
|
UTSW |
15 |
76,620,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R6276:Arhgap39
|
UTSW |
15 |
76,621,736 (GRCm39) |
missense |
probably benign |
0.06 |
R6277:Arhgap39
|
UTSW |
15 |
76,619,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R6305:Arhgap39
|
UTSW |
15 |
76,621,902 (GRCm39) |
missense |
probably benign |
0.31 |
R6587:Arhgap39
|
UTSW |
15 |
76,621,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Arhgap39
|
UTSW |
15 |
76,649,691 (GRCm39) |
missense |
probably benign |
0.09 |
R7447:Arhgap39
|
UTSW |
15 |
76,649,797 (GRCm39) |
start gained |
probably benign |
|
R7658:Arhgap39
|
UTSW |
15 |
76,621,617 (GRCm39) |
missense |
probably benign |
0.03 |
R8071:Arhgap39
|
UTSW |
15 |
76,621,702 (GRCm39) |
missense |
probably benign |
|
R8269:Arhgap39
|
UTSW |
15 |
76,635,942 (GRCm39) |
missense |
probably benign |
0.35 |
R8368:Arhgap39
|
UTSW |
15 |
76,619,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Arhgap39
|
UTSW |
15 |
76,619,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9333:Arhgap39
|
UTSW |
15 |
76,619,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R9438:Arhgap39
|
UTSW |
15 |
76,636,118 (GRCm39) |
missense |
probably damaging |
0.96 |
R9602:Arhgap39
|
UTSW |
15 |
76,610,954 (GRCm39) |
missense |
probably damaging |
0.98 |
R9615:Arhgap39
|
UTSW |
15 |
76,621,438 (GRCm39) |
missense |
probably benign |
0.02 |
R9700:Arhgap39
|
UTSW |
15 |
76,611,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACAGGGTCCATATGCCGG -3'
(R):5'- CTCAGAGACGGACATCGAGAAC -3'
Sequencing Primer
(F):5'- GTCCATATGCCGGTAGATATAGCC -3'
(R):5'- ATCGAGAACTGGGCCTCCAAG -3'
|
Posted On |
2016-09-01 |