Incidental Mutation 'R1075:Arhgap40'
| ID |
85590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap40
|
| Ensembl Gene |
ENSMUSG00000074625 |
| Gene Name |
Rho GTPase activating protein 40 |
| Synonyms |
Gm14203 |
| MMRRC Submission |
039161-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.442)
|
| Stock # |
R1075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158354716-158392682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158391567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 627
(N627D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099133]
[ENSMUST00000165398]
|
| AlphaFold |
E9Q6X9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099133
AA Change: N630D
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: N630D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
RhoGAP
|
340 |
519 |
1.84e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135838
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165398
AA Change: N627D
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: N627D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
140 |
N/A |
INTRINSIC |
|
RhoGAP
|
337 |
516 |
1.84e-47 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Apbb2 |
G |
T |
5: 66,460,021 (GRCm39) |
P692Q |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,676,076 (GRCm39) |
R465* |
probably null |
Het |
| Bdkrb1 |
G |
A |
12: 105,570,562 (GRCm39) |
V43I |
probably benign |
Het |
| Bod1 |
T |
C |
11: 31,621,514 (GRCm39) |
D63G |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,310 (GRCm39) |
K685* |
probably null |
Het |
| Dennd5a |
A |
T |
7: 109,517,808 (GRCm39) |
D609E |
probably benign |
Het |
| Dhx34 |
G |
C |
7: 15,952,274 (GRCm39) |
T117S |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,182,630 (GRCm39) |
D550E |
probably benign |
Het |
| Enah |
C |
T |
1: 181,784,066 (GRCm39) |
R81K |
unknown |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,423,212 (GRCm39) |
M298L |
probably benign |
Het |
| Fam81a |
G |
A |
9: 70,017,556 (GRCm39) |
R130* |
probably null |
Het |
| Fbxl3 |
A |
C |
14: 103,332,839 (GRCm39) |
H46Q |
probably benign |
Het |
| Gal3st1 |
A |
G |
11: 3,948,509 (GRCm39) |
I239V |
possibly damaging |
Het |
| H2-T15 |
C |
T |
17: 36,367,038 (GRCm39) |
G335D |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,523,612 (GRCm39) |
I318V |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,516,543 (GRCm39) |
N86S |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,127,063 (GRCm39) |
N231D |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,040 (GRCm39) |
D1998G |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,940,417 (GRCm39) |
R789L |
possibly damaging |
Het |
| Myh7 |
A |
G |
14: 55,224,860 (GRCm39) |
V569A |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,503,588 (GRCm39) |
I617M |
probably damaging |
Het |
| Nlrp1b |
C |
G |
11: 71,072,512 (GRCm39) |
E444Q |
probably benign |
Het |
| Or10ak16 |
T |
C |
4: 118,750,402 (GRCm39) |
S41P |
probably damaging |
Het |
| Or2b4 |
T |
A |
17: 38,116,660 (GRCm39) |
L208* |
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,035,677 (GRCm39) |
I227F |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,478,709 (GRCm39) |
S603P |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,644,055 (GRCm39) |
I913N |
possibly damaging |
Het |
| Smyd4 |
T |
C |
11: 75,291,164 (GRCm39) |
Y589H |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,000,992 (GRCm39) |
E1850G |
probably damaging |
Het |
| Srsf11 |
A |
T |
3: 157,718,427 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,058,687 (GRCm39) |
N488I |
possibly damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,362 (GRCm39) |
Q160* |
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Uchl1 |
T |
A |
5: 66,839,808 (GRCm39) |
F117I |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,245,677 (GRCm39) |
N307K |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,419,926 (GRCm39) |
H341L |
probably damaging |
Het |
|
| Other mutations in Arhgap40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Arhgap40
|
APN |
2 |
158,373,078 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL00547:Arhgap40
|
APN |
2 |
158,380,546 (GRCm39) |
splice site |
probably benign |
|
|
IGL00911:Arhgap40
|
APN |
2 |
158,376,636 (GRCm39) |
splice site |
probably benign |
|
|
IGL01084:Arhgap40
|
APN |
2 |
158,385,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Arhgap40
|
APN |
2 |
158,376,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Arhgap40
|
APN |
2 |
158,381,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02131:Arhgap40
|
APN |
2 |
158,373,859 (GRCm39) |
splice site |
probably null |
|
|
IGL02552:Arhgap40
|
APN |
2 |
158,388,721 (GRCm39) |
missense |
probably benign |
|
|
PIT4305001:Arhgap40
|
UTSW |
2 |
158,373,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0212:Arhgap40
|
UTSW |
2 |
158,392,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Arhgap40
|
UTSW |
2 |
158,388,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Arhgap40
|
UTSW |
2 |
158,389,710 (GRCm39) |
missense |
probably benign |
|
|
R1201:Arhgap40
|
UTSW |
2 |
158,376,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Arhgap40
|
UTSW |
2 |
158,369,081 (GRCm39) |
missense |
probably benign |
|
|
R1519:Arhgap40
|
UTSW |
2 |
158,388,721 (GRCm39) |
missense |
probably benign |
|
|
R1567:Arhgap40
|
UTSW |
2 |
158,388,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Arhgap40
|
UTSW |
2 |
158,381,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Arhgap40
|
UTSW |
2 |
158,374,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4592:Arhgap40
|
UTSW |
2 |
158,388,629 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4678:Arhgap40
|
UTSW |
2 |
158,374,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4818:Arhgap40
|
UTSW |
2 |
158,381,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Arhgap40
|
UTSW |
2 |
158,385,326 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5108:Arhgap40
|
UTSW |
2 |
158,389,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Arhgap40
|
UTSW |
2 |
158,373,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6924:Arhgap40
|
UTSW |
2 |
158,369,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6931:Arhgap40
|
UTSW |
2 |
158,373,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7028:Arhgap40
|
UTSW |
2 |
158,373,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7253:Arhgap40
|
UTSW |
2 |
158,389,576 (GRCm39) |
missense |
probably benign |
|
|
R7385:Arhgap40
|
UTSW |
2 |
158,385,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Arhgap40
|
UTSW |
2 |
158,373,845 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7813:Arhgap40
|
UTSW |
2 |
158,380,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7824:Arhgap40
|
UTSW |
2 |
158,376,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Arhgap40
|
UTSW |
2 |
158,381,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8559:Arhgap40
|
UTSW |
2 |
158,383,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Arhgap40
|
UTSW |
2 |
158,354,758 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8804:Arhgap40
|
UTSW |
2 |
158,389,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9096:Arhgap40
|
UTSW |
2 |
158,389,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9097:Arhgap40
|
UTSW |
2 |
158,389,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9222:Arhgap40
|
UTSW |
2 |
158,388,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Arhgap40
|
UTSW |
2 |
158,391,571 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Arhgap40
|
UTSW |
2 |
158,376,805 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCCTCCTTGATGCAGAAGCC -3'
(R):5'- CCACGAAGGAAGAGTGCCTAAGTC -3'
Sequencing Primer
(F):5'- GGCTGATCTTTCCCAAGGAC -3'
(R):5'- AAGTCAGCCGTGCTCATC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation