Incidental Mutation 'IGL02508:Arhgap39'
ID |
296467 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap39
|
Ensembl Gene |
ENSMUSG00000033697 |
Gene Name |
Rho GTPase activating protein 39 |
Synonyms |
D15Wsu169e |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
IGL02508
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 76609184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 1079
(*1079Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000036247]
[ENSMUST00000049956]
[ENSMUST00000077821]
[ENSMUST00000228990]
|
AlphaFold |
P59281 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036176
AA Change: *1110Q
|
SMART Domains |
Protein: ENSMUSP00000036697 Gene: ENSMUSG00000033697 AA Change: *1110Q
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 |
probably benign
Transcript: ENSMUST00000036247
|
SMART Domains |
Protein: ENSMUSP00000039910 Gene: ENSMUSG00000116138
Domain | Start | End | E-Value | Type |
Pfam:DUF4505
|
31 |
209 |
5.4e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049956
|
SMART Domains |
Protein: ENSMUSP00000061906 Gene: ENSMUSG00000033707
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
LRRNT
|
30 |
62 |
1.04e-2 |
SMART |
LRR
|
61 |
80 |
3.18e2 |
SMART |
LRR_TYP
|
81 |
104 |
2.99e-4 |
SMART |
LRR
|
106 |
128 |
3.87e1 |
SMART |
LRR_TYP
|
129 |
152 |
8.22e-2 |
SMART |
LRR_TYP
|
153 |
176 |
5.06e-2 |
SMART |
LRR
|
177 |
200 |
2.02e-1 |
SMART |
LRRCT
|
212 |
266 |
2e-10 |
SMART |
IGc2
|
280 |
360 |
1.02e-9 |
SMART |
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077821
AA Change: *1079Q
|
SMART Domains |
Protein: ENSMUSP00000076993 Gene: ENSMUSG00000033697 AA Change: *1079Q
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: ENSMUST00000146725
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228990
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230559
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700061I17Rik |
T |
A |
3: 116,870,764 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
A |
T |
13: 81,583,675 (GRCm39) |
|
probably benign |
Het |
AI429214 |
T |
G |
8: 37,461,240 (GRCm39) |
D129E |
probably benign |
Het |
Alx1 |
G |
A |
10: 102,858,054 (GRCm39) |
T215M |
probably damaging |
Het |
Brca2 |
T |
C |
5: 150,466,773 (GRCm39) |
V2179A |
possibly damaging |
Het |
Cdcp3 |
A |
G |
7: 130,824,559 (GRCm39) |
E91G |
probably damaging |
Het |
Celsr1 |
G |
A |
15: 85,914,818 (GRCm39) |
Q1052* |
probably null |
Het |
Chd5 |
A |
G |
4: 152,447,481 (GRCm39) |
E510G |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,211,254 (GRCm39) |
D556G |
probably damaging |
Het |
Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
Cyp4a31 |
A |
T |
4: 115,428,261 (GRCm39) |
Y319F |
probably damaging |
Het |
Dcaf12 |
C |
T |
4: 41,296,310 (GRCm39) |
|
probably null |
Het |
Dcc |
C |
A |
18: 71,503,773 (GRCm39) |
A942S |
probably benign |
Het |
Dyrk1a |
A |
T |
16: 94,486,042 (GRCm39) |
D463V |
probably damaging |
Het |
Eln |
T |
A |
5: 134,733,422 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,761,803 (GRCm39) |
|
probably null |
Het |
Fndc3b |
T |
C |
3: 27,512,900 (GRCm39) |
Y742C |
probably damaging |
Het |
Furin |
G |
A |
7: 80,042,269 (GRCm39) |
T442I |
probably benign |
Het |
Gli1 |
T |
C |
10: 127,172,961 (GRCm39) |
Q155R |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,538,179 (GRCm39) |
E218G |
probably benign |
Het |
Grb10 |
C |
T |
11: 11,896,767 (GRCm39) |
V236M |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,310,009 (GRCm39) |
|
probably benign |
Het |
Hgfac |
A |
T |
5: 35,204,564 (GRCm39) |
M579L |
probably damaging |
Het |
Ifi202b |
A |
T |
1: 173,802,338 (GRCm39) |
D165E |
probably benign |
Het |
Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,333,774 (GRCm39) |
G1489D |
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,574 (GRCm39) |
S344C |
probably damaging |
Het |
Lzts1 |
G |
A |
8: 69,593,500 (GRCm39) |
R36* |
probably null |
Het |
Mapkap1 |
T |
C |
2: 34,408,681 (GRCm39) |
|
probably benign |
Het |
Meis3 |
T |
A |
7: 15,912,722 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
T |
A |
6: 113,217,267 (GRCm39) |
C60S |
probably damaging |
Het |
Nfkb1 |
T |
A |
3: 135,296,579 (GRCm39) |
Y789F |
probably damaging |
Het |
Nup54 |
G |
A |
5: 92,565,398 (GRCm39) |
Q440* |
probably null |
Het |
Ogdhl |
T |
G |
14: 32,067,131 (GRCm39) |
M861R |
probably damaging |
Het |
Or13c7b |
T |
C |
4: 43,821,289 (GRCm39) |
E24G |
possibly damaging |
Het |
Or4d10 |
G |
T |
19: 12,051,251 (GRCm39) |
H248Q |
possibly damaging |
Het |
Or4k42 |
C |
T |
2: 111,320,180 (GRCm39) |
A108T |
probably damaging |
Het |
Or52w1 |
A |
T |
7: 105,017,743 (GRCm39) |
H61L |
possibly damaging |
Het |
Or6c69b |
A |
G |
10: 129,626,660 (GRCm39) |
V266A |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,145,948 (GRCm39) |
K412R |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,047,051 (GRCm39) |
|
probably benign |
Het |
Pigr |
A |
T |
1: 130,778,595 (GRCm39) |
I760L |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,691,590 (GRCm39) |
N378D |
probably benign |
Het |
Prr14l |
G |
A |
5: 32,988,286 (GRCm39) |
A403V |
probably benign |
Het |
Prrt3 |
T |
C |
6: 113,471,268 (GRCm39) |
D968G |
probably damaging |
Het |
Psmc5 |
T |
C |
11: 106,153,869 (GRCm39) |
I401T |
possibly damaging |
Het |
Ralyl |
T |
A |
3: 14,172,332 (GRCm39) |
|
probably benign |
Het |
Samd9l |
T |
C |
6: 3,374,798 (GRCm39) |
E821G |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,973,802 (GRCm39) |
I370F |
probably damaging |
Het |
Setd1a |
A |
G |
7: 127,396,870 (GRCm39) |
|
probably benign |
Het |
Slco2a1 |
T |
A |
9: 102,951,615 (GRCm39) |
F381L |
probably benign |
Het |
Strada |
A |
G |
11: 106,059,182 (GRCm39) |
Y199H |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,682,531 (GRCm39) |
I40T |
probably damaging |
Het |
Tbx3 |
T |
C |
5: 119,816,877 (GRCm39) |
V358A |
possibly damaging |
Het |
Tenm3 |
A |
G |
8: 48,752,674 (GRCm39) |
L896S |
probably benign |
Het |
Tmem132a |
A |
G |
19: 10,835,882 (GRCm39) |
S883P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,818,190 (GRCm39) |
I496T |
possibly damaging |
Het |
Unc79 |
C |
T |
12: 103,078,535 (GRCm39) |
R1548W |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,078,277 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,996,067 (GRCm39) |
M194V |
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 |
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 |
|
R5417:Arhgap39
|
UTSW |
15 |
76,619,301 (GRCm39) |
missense |
possibly damaging |
0.80 |
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 |
|
Posted On |
2015-04-16 |