Incidental Mutation 'R6587:Arhgap39'
ID |
524469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap39
|
Ensembl Gene |
ENSMUSG00000033697 |
Gene Name |
Rho GTPase activating protein 39 |
Synonyms |
D15Wsu169e |
MMRRC Submission |
044711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R6587 (G1)
|
Quality Score |
150.008 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76621699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 301
(S301P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000077821]
|
AlphaFold |
P59281 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036176
AA Change: S301P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036697 Gene: ENSMUSG00000033697 AA Change: S301P
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 damaging
Transcript: ENSMUST00000077821
AA Change: S301P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076993 Gene: ENSMUSG00000033697 AA Change: S301P
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
2: 25,162,550 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
T |
10: 69,825,982 (GRCm39) |
|
probably benign |
Het |
Ano3 |
C |
A |
2: 110,628,249 (GRCm39) |
|
probably null |
Het |
Atad2 |
G |
T |
15: 57,984,444 (GRCm39) |
Q295K |
probably benign |
Het |
Camkmt |
T |
C |
17: 85,421,243 (GRCm39) |
V115A |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,390,571 (GRCm39) |
E1087G |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,738,596 (GRCm39) |
I322F |
probably benign |
Het |
Chil6 |
T |
C |
3: 106,312,197 (GRCm39) |
M35V |
probably benign |
Het |
Cyp3a44 |
T |
C |
5: 145,742,569 (GRCm39) |
T11A |
probably benign |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Ghitm |
A |
T |
14: 36,847,146 (GRCm39) |
Y309* |
probably null |
Het |
Klhl18 |
T |
C |
9: 110,284,494 (GRCm39) |
H64R |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,860,704 (GRCm39) |
K201R |
probably benign |
Het |
Lpar3 |
T |
C |
3: 145,946,918 (GRCm39) |
F199L |
probably damaging |
Het |
Mindy3 |
G |
A |
2: 12,352,927 (GRCm39) |
Q425* |
probably null |
Het |
Or5b114-ps1 |
A |
T |
19: 13,352,977 (GRCm39) |
Y217F |
unknown |
Het |
P2rx7 |
A |
C |
5: 122,802,613 (GRCm39) |
N207T |
probably damaging |
Het |
Pcdhb7 |
T |
G |
18: 37,477,156 (GRCm39) |
L764R |
probably benign |
Het |
Pgap6 |
G |
A |
17: 26,340,538 (GRCm39) |
V641I |
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,182 (GRCm39) |
Y378C |
probably damaging |
Het |
Slc23a2 |
C |
T |
2: 131,920,401 (GRCm39) |
S168N |
possibly damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,913 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,868,317 (GRCm39) |
L198F |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,146 (GRCm39) |
T725I |
possibly damaging |
Het |
Tut4 |
C |
A |
4: 108,336,646 (GRCm39) |
N123K |
probably benign |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zp3 |
A |
G |
5: 136,016,352 (GRCm39) |
D318G |
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 |
|
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 |
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'- CAGGCTCAGAAAACGCTCAG -3'
(R):5'- ATGGCTATCCCGCAGACAAC -3'
Sequencing Primer
(F):5'- AAACGCTCAGGGCACTTTTG -3'
(R):5'- TCACCGCAGACCATCTGG -3'
|
Posted On |
2018-06-22 |