Incidental Mutation 'R0549:Arhgap39'
| ID |
45042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap39
|
| Ensembl Gene |
ENSMUSG00000033697 |
| Gene Name |
Rho GTPase activating protein 39 |
| Synonyms |
D15Wsu169e |
| MMRRC Submission |
038741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R0549 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76619086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 833
(D833N)
|
| 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: D833N
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: D833N
| 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: D833N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: D833N
| 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
|
| Meta Mutation Damage Score |
0.1155 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,633,216 (GRCm39) |
F498L |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,433,763 (GRCm39) |
D64V |
possibly damaging |
Het |
| Agbl2 |
T |
C |
2: 90,620,187 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,919,692 (GRCm39) |
S151G |
probably benign |
Het |
| C4b |
G |
T |
17: 34,954,389 (GRCm39) |
L927I |
probably damaging |
Het |
| Ccl3 |
T |
C |
11: 83,539,162 (GRCm39) |
T66A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 110,036,674 (GRCm39) |
L618P |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,957,603 (GRCm39) |
T989A |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,667,226 (GRCm39) |
D377E |
probably damaging |
Het |
| Cnpy4 |
T |
C |
5: 138,185,899 (GRCm39) |
F18S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,781,778 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
G |
A |
16: 48,139,034 (GRCm39) |
R289H |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,489,478 (GRCm39) |
T96A |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,778 (GRCm39) |
E577G |
possibly damaging |
Het |
| Gcgr |
G |
A |
11: 120,427,387 (GRCm39) |
G166S |
probably benign |
Het |
| Gm5316 |
T |
C |
6: 122,877,150 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,119,799 (GRCm39) |
R292Q |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,919,261 (GRCm39) |
|
probably null |
Het |
| Hkdc1 |
T |
A |
10: 62,236,019 (GRCm39) |
T508S |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,410 (GRCm39) |
I291N |
probably damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,784,001 (GRCm39) |
T377S |
probably benign |
Het |
| Lrrc28 |
A |
G |
7: 67,278,090 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
A |
T |
9: 7,455,638 (GRCm39) |
N463I |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,196,065 (GRCm39) |
F578S |
probably damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,168,476 (GRCm39) |
M608K |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,359,597 (GRCm39) |
F1412L |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,141,227 (GRCm39) |
W1083R |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,446,241 (GRCm39) |
Y45C |
probably benign |
Het |
| Or3a1b |
T |
G |
11: 74,012,301 (GRCm39) |
M62R |
probably damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,958,368 (GRCm39) |
R881L |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,324,974 (GRCm39) |
E456G |
possibly damaging |
Het |
| Pbxip1 |
T |
A |
3: 89,350,899 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
G |
14: 122,875,789 (GRCm39) |
|
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,695,414 (GRCm39) |
N511I |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,103,030 (GRCm39) |
I435F |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,355,908 (GRCm39) |
T4117M |
probably damaging |
Het |
| Sel1l2 |
A |
T |
2: 140,107,802 (GRCm39) |
M216K |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,864,417 (GRCm39) |
|
probably null |
Het |
| Sirt3 |
A |
T |
7: 140,449,400 (GRCm39) |
|
probably null |
Het |
| Smpd4 |
T |
C |
16: 17,457,176 (GRCm39) |
V378A |
probably benign |
Het |
| Svil |
T |
A |
18: 5,064,566 (GRCm39) |
S642T |
possibly damaging |
Het |
| Tcp10a |
A |
G |
17: 7,593,950 (GRCm39) |
K92E |
probably benign |
Het |
| Tmem144 |
T |
C |
3: 79,730,051 (GRCm39) |
D233G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,625,069 (GRCm39) |
S335P |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,150 (GRCm39) |
L4786P |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,579,872 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,641 (GRCm39) |
N241D |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,199,963 (GRCm39) |
C497S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCTCTGAGGCTACAAGGCAG -3'
(R):5'- AGCAGTGAGTCCATCAAGAAGCCC -3'
Sequencing Primer
(F):5'- CAGAGGAAACTAGGCTTTGGG -3'
(R):5'- ATTGTGACTAGTGACCGGCAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation