Incidental Mutation 'R8269:Arhgap39'
| ID |
639513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap39
|
| Ensembl Gene |
ENSMUSG00000033697 |
| Gene Name |
Rho GTPase activating protein 39 |
| Synonyms |
D15Wsu169e |
| MMRRC Submission |
067693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R8269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76635942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 98
(Q98K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000077821]
[ENSMUST00000176855]
|
| AlphaFold |
P59281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036176
AA Change: Q98K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: Q98K
| 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: ENSMUST00000077821
AA Change: Q98K
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: Q98K
| 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 |
probably benign
Transcript: ENSMUST00000176855
AA Change: Q98K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135043
Gene: ENSMUSG00000033697
AA Change: Q98K
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
27 |
60 |
1.64e0 |
SMART |
|
WW
|
66 |
99 |
5.41e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
C |
14: 8,246,325 (GRCm38) |
T489A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,121,079 (GRCm39) |
C850S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| Akap11 |
G |
A |
14: 78,750,818 (GRCm39) |
T523I |
|
Het |
| Amigo2 |
G |
T |
15: 97,144,112 (GRCm39) |
N103K |
possibly damaging |
Het |
| Arfgap3 |
A |
C |
15: 83,194,542 (GRCm39) |
S377A |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,059,892 (GRCm39) |
D779G |
probably damaging |
Het |
| Bckdhb |
T |
C |
9: 84,004,417 (GRCm39) |
I388T |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,572,964 (GRCm39) |
K496R |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,478,389 (GRCm39) |
F979L |
probably damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,334,803 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,800 (GRCm39) |
S402T |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,182,500 (GRCm39) |
Y211* |
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,145,810 (GRCm39) |
|
probably null |
Het |
| Emc10 |
G |
T |
7: 44,141,408 (GRCm39) |
Q227K |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Exosc4 |
A |
T |
15: 76,211,732 (GRCm39) |
I14L |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,535 (GRCm39) |
T2393A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,187 (GRCm39) |
H405L |
possibly damaging |
Het |
| Gin1 |
T |
A |
1: 97,710,929 (GRCm39) |
M204K |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,100,862 (GRCm39) |
N103K |
possibly damaging |
Het |
| Gnal |
A |
G |
18: 67,268,693 (GRCm39) |
D193G |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,312,258 (GRCm39) |
R554L |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,727,655 (GRCm39) |
L149P |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,388,724 (GRCm39) |
Y2234H |
unknown |
Het |
| Lsm14b |
T |
C |
2: 179,674,407 (GRCm39) |
S317P |
probably damaging |
Het |
| Mapk4 |
G |
C |
18: 74,063,622 (GRCm39) |
F533L |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Ncan |
T |
A |
8: 70,560,330 (GRCm39) |
Q879L |
probably benign |
Het |
| Nox4 |
T |
G |
7: 86,955,930 (GRCm39) |
|
probably benign |
Het |
| Or4p18 |
A |
T |
2: 88,232,381 (GRCm39) |
V299D |
probably damaging |
Het |
| Or5p67 |
A |
T |
7: 107,922,776 (GRCm39) |
C36S |
probably benign |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,062 (GRCm39) |
K713E |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,756,211 (GRCm39) |
D835G |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,079,388 (GRCm39) |
N63D |
probably benign |
Het |
| Pls1 |
G |
T |
9: 95,644,023 (GRCm39) |
T491K |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,145,095 (GRCm39) |
D35G |
unknown |
Het |
| Slc28a2b |
C |
T |
2: 122,352,169 (GRCm39) |
H336Y |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,339,982 (GRCm39) |
K180R |
probably benign |
Het |
| Suv39h1 |
G |
T |
X: 7,937,270 (GRCm39) |
Q129K |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,465,169 (GRCm39) |
V73A |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,634,608 (GRCm39) |
V421E |
probably benign |
Het |
| Topbp1 |
C |
A |
9: 103,205,792 (GRCm39) |
P810Q |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,425,325 (GRCm39) |
V1717M |
probably benign |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,585 (GRCm39) |
T273S |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,423,188 (GRCm39) |
D1062G |
probably damaging |
Het |
| Zcrb1 |
A |
G |
15: 93,295,056 (GRCm39) |
Y27H |
probably benign |
Het |
| Zfp128 |
G |
A |
7: 12,624,663 (GRCm39) |
G344R |
probably 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 |
|
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 |
|
|
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'- CCTCCTTTGACGTGACCAAG -3'
(R):5'- GTGGAGATTATCGAACCACGC -3'
Sequencing Primer
(F):5'- ACGTGACCAAGGTTGTTGCC -3'
(R):5'- CACGCGCGAACGTATGTATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation