Incidental Mutation 'R5785:Arhgap39'
| ID |
447979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap39
|
| Ensembl Gene |
ENSMUSG00000033697 |
| Gene Name |
Rho GTPase activating protein 39 |
| Synonyms |
D15Wsu169e |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76608183-76702366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76621618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 328
(M328V)
|
| 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: M328V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: M328V
| 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: M328V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: M328V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
probably benign |
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 |
|
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'- TATTCCAGGCTCAGAAAACGCTC -3'
(R):5'- TGCAGACCTTTGTCCCTGAC -3'
Sequencing Primer
(F):5'- AAACGCTCAGGGCACTTTTG -3'
(R):5'- TGACACTGATGGCACTGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation