Incidental Mutation 'R2497:Arhgap39'
ID |
251111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap39
|
Ensembl Gene |
ENSMUSG00000033697 |
Gene Name |
Rho GTPase activating protein 39 |
Synonyms |
D15Wsu169e |
MMRRC Submission |
040411-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R2497 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 76609585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1025
(V1025L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036697
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000036247]
[ENSMUST00000049956]
[ENSMUST00000077821]
[ENSMUST00000228990]
|
AlphaFold |
P59281 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036176
AA Change: V1025L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036697 Gene: ENSMUSG00000033697 AA Change: V1025L
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 |
possibly damaging
Transcript: ENSMUST00000077821
AA Change: V994L
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000076993 Gene: ENSMUSG00000033697 AA Change: V994L
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: ENSMUST00000230559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229507
|
Meta Mutation Damage Score |
0.3494 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
A |
G |
14: 8,251,612 (GRCm38) |
V295A |
probably benign |
Het |
Agrn |
T |
C |
4: 156,258,268 (GRCm39) |
E959G |
probably benign |
Het |
Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
Atg4d |
C |
T |
9: 21,184,682 (GRCm39) |
R459* |
probably null |
Het |
Atp11b |
A |
G |
3: 35,909,294 (GRCm39) |
S1163G |
probably damaging |
Het |
Atp13a5 |
G |
T |
16: 29,157,889 (GRCm39) |
S173* |
probably null |
Het |
Atp6v1g2 |
T |
A |
17: 35,455,762 (GRCm39) |
I8N |
probably damaging |
Het |
Ccdc77 |
C |
T |
6: 120,302,433 (GRCm39) |
G430R |
possibly damaging |
Het |
Cdc34b |
A |
G |
11: 94,633,207 (GRCm39) |
T136A |
probably benign |
Het |
Cdkal1 |
A |
G |
13: 29,658,524 (GRCm39) |
S23P |
unknown |
Het |
Cdkl2 |
T |
A |
5: 92,156,857 (GRCm39) |
H566L |
probably benign |
Het |
Cers6 |
T |
C |
2: 68,901,790 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
T |
C |
5: 123,421,432 (GRCm39) |
V98A |
probably damaging |
Het |
Clspn |
A |
G |
4: 126,466,140 (GRCm39) |
T557A |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,234,513 (GRCm39) |
T192A |
possibly damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
G |
11: 117,977,850 (GRCm39) |
|
probably null |
Het |
Dnah8 |
C |
T |
17: 30,960,339 (GRCm39) |
Q2239* |
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,656,376 (GRCm39) |
V1572A |
probably benign |
Het |
Elfn2 |
C |
G |
15: 78,558,464 (GRCm39) |
E28Q |
probably damaging |
Het |
Enam |
T |
A |
5: 88,650,553 (GRCm39) |
N687K |
probably benign |
Het |
Flywch1 |
G |
A |
17: 23,974,685 (GRCm39) |
R652W |
probably benign |
Het |
Gm5612 |
T |
C |
9: 18,338,975 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
Mmp3 |
A |
G |
9: 7,450,131 (GRCm39) |
T288A |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,491,649 (GRCm39) |
F168L |
probably damaging |
Het |
Mtres1 |
T |
C |
10: 43,401,263 (GRCm39) |
|
probably benign |
Het |
Myo1d |
T |
A |
11: 80,565,647 (GRCm39) |
N393Y |
probably damaging |
Het |
Nacc2 |
A |
T |
2: 25,979,580 (GRCm39) |
Y285* |
probably null |
Het |
Nf1 |
G |
T |
11: 79,334,710 (GRCm39) |
G844V |
probably damaging |
Het |
Nox4 |
T |
A |
7: 86,945,084 (GRCm39) |
Y113* |
probably null |
Het |
Pcdha3 |
T |
C |
18: 37,080,556 (GRCm39) |
C433R |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,142,142 (GRCm39) |
I358V |
probably damaging |
Het |
Pdgfrb |
A |
T |
18: 61,211,700 (GRCm39) |
D819V |
possibly damaging |
Het |
Phf3 |
C |
A |
1: 30,869,095 (GRCm39) |
R651L |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,075,834 (GRCm39) |
V244A |
possibly damaging |
Het |
Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
Rab27a |
T |
C |
9: 72,992,263 (GRCm39) |
L97P |
probably damaging |
Het |
Rnf20 |
G |
A |
4: 49,652,676 (GRCm39) |
|
probably null |
Het |
Sdad1 |
T |
C |
5: 92,447,958 (GRCm39) |
N259S |
probably benign |
Het |
Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
Slc1a4 |
T |
C |
11: 20,282,620 (GRCm39) |
|
probably benign |
Het |
Smyd2 |
T |
A |
1: 189,617,534 (GRCm39) |
N300I |
possibly damaging |
Het |
Snd1 |
A |
G |
6: 28,888,078 (GRCm39) |
I875V |
probably benign |
Het |
Ssh1 |
T |
C |
5: 114,096,919 (GRCm39) |
N174S |
probably damaging |
Het |
Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,564,319 (GRCm39) |
|
probably null |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tpcn1 |
C |
T |
5: 120,677,063 (GRCm39) |
|
probably null |
Het |
Unc45b |
A |
T |
11: 82,827,269 (GRCm39) |
I699F |
probably damaging |
Het |
Uspl1 |
C |
T |
5: 149,124,664 (GRCm39) |
P27L |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,043,535 (GRCm39) |
P91R |
probably damaging |
Het |
Zdhhc23 |
G |
A |
16: 43,794,278 (GRCm39) |
T132M |
probably damaging |
Het |
Zfp148 |
T |
C |
16: 33,316,755 (GRCm39) |
Y434H |
probably damaging |
Het |
Zhx2 |
T |
C |
15: 57,686,551 (GRCm39) |
V640A |
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 |
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'- TGCACGAACACCTGTGTGAG -3'
(R):5'- ACCCTGTTTCTCTGGATGTG -3'
Sequencing Primer
(F):5'- AACACCTGTGTGAGGGGGTC -3'
(R):5'- CTGTTTCTCTGGATGTGGCCTC -3'
|
Posted On |
2014-12-04 |