Incidental Mutation 'R6305:Arhgap39'
| ID |
509620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap39
|
| Ensembl Gene |
ENSMUSG00000033697 |
| Gene Name |
Rho GTPase activating protein 39 |
| Synonyms |
D15Wsu169e |
| MMRRC Submission |
044411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R6305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76621902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 233
(D233V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000077821]
|
| AlphaFold |
P59281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036176
AA Change: D233V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: D233V
| 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: D233V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: D233V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
97% (61/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,741 (GRCm39) |
S977P |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Adcy6 |
T |
A |
15: 98,496,526 (GRCm39) |
I550L |
probably benign |
Het |
| Agbl3 |
G |
A |
6: 34,759,145 (GRCm39) |
D19N |
unknown |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Bcl9 |
G |
A |
3: 97,113,254 (GRCm39) |
P1067L |
possibly damaging |
Het |
| Casd1 |
C |
T |
6: 4,641,892 (GRCm39) |
T723I |
probably damaging |
Het |
| Cd209g |
T |
A |
8: 4,186,809 (GRCm39) |
I118N |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,869,813 (GRCm39) |
D701E |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,757,174 (GRCm39) |
P1858S |
possibly damaging |
Het |
| Csnk1g3 |
T |
A |
18: 54,065,384 (GRCm39) |
Y322* |
probably null |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,069,668 (GRCm39) |
F909S |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,161,138 (GRCm39) |
S299T |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg4 |
T |
A |
18: 20,582,847 (GRCm39) |
Y162N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,517,780 (GRCm39) |
Y882C |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,883,630 (GRCm39) |
N520K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,225,549 (GRCm39) |
A14T |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,626 (GRCm39) |
R679Q |
probably damaging |
Het |
| Hnrnpdl |
T |
C |
5: 100,186,517 (GRCm39) |
|
probably benign |
Het |
| Il12a |
A |
T |
3: 68,601,511 (GRCm39) |
K77N |
possibly damaging |
Het |
| Il17rd |
C |
T |
14: 26,817,899 (GRCm39) |
S196L |
possibly damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,301,237 (GRCm39) |
F363L |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,013,727 (GRCm39) |
|
probably null |
Het |
| Lrit3 |
G |
A |
3: 129,594,109 (GRCm39) |
T156I |
probably damaging |
Het |
| Me2 |
T |
A |
18: 73,924,915 (GRCm39) |
R267S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,778,179 (GRCm39) |
V1908A |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,077,048 (GRCm39) |
I463F |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,141,775 (GRCm39) |
R75* |
probably null |
Het |
| Niban1 |
T |
C |
1: 151,571,469 (GRCm39) |
L248P |
probably damaging |
Het |
| Or10a3b |
C |
T |
7: 108,444,761 (GRCm39) |
G152D |
possibly damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,634 (GRCm39) |
S75T |
probably damaging |
Het |
| Or5p50 |
T |
G |
7: 107,421,864 (GRCm39) |
T271P |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TG |
TGGTGTTGG |
9: 37,937,838 (GRCm39) |
|
probably null |
Het |
| Or8k33 |
A |
G |
2: 86,383,839 (GRCm39) |
S210P |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,892,023 (GRCm39) |
S162P |
possibly damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,151,768 (GRCm39) |
V654E |
probably benign |
Het |
| Plxdc1 |
C |
A |
11: 97,829,416 (GRCm39) |
C318F |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,427,348 (GRCm39) |
K419N |
probably damaging |
Het |
| Septin4 |
C |
T |
11: 87,458,145 (GRCm39) |
T173M |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc24a4 |
C |
A |
12: 102,188,360 (GRCm39) |
T151K |
possibly damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,225,031 (GRCm39) |
I40F |
probably benign |
Het |
| Slc6a21 |
T |
C |
7: 44,930,028 (GRCm39) |
V172A |
possibly damaging |
Het |
| Thrap3 |
A |
G |
4: 126,074,600 (GRCm39) |
|
probably benign |
Het |
| Tm9sf3 |
A |
G |
19: 41,233,881 (GRCm39) |
|
probably null |
Het |
| Trp53 |
A |
T |
11: 69,479,533 (GRCm39) |
H211L |
probably damaging |
Het |
| Ttc21b |
A |
T |
2: 66,018,614 (GRCm39) |
N1264K |
probably damaging |
Het |
| Vmn1r120 |
A |
T |
7: 20,787,531 (GRCm39) |
V60E |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,077,319 (GRCm39) |
E890G |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp934 |
T |
C |
13: 62,666,370 (GRCm39) |
Y102C |
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 |
|
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'- TTCATAACCATAGCGAGGGGAG -3'
(R):5'- TACCCGTGAAGAGAGTGCTG -3'
Sequencing Primer
(F):5'- GAGTCACTGGAGGGTTTCC -3'
(R):5'- CCGTGAAGAGAGTGCTGGATGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation