Incidental Mutation 'R1201:Arhgap40'
| ID |
101348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap40
|
| Ensembl Gene |
ENSMUSG00000074625 |
| Gene Name |
Rho GTPase activating protein 40 |
| Synonyms |
Gm14203 |
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.442)
|
| Stock # |
R1201 (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 C
at 158376689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 275
(D275A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099133]
[ENSMUST00000165398]
|
| AlphaFold |
E9Q6X9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099133
AA Change: D278A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: D278A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
RhoGAP
|
340 |
519 |
1.84e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165398
AA Change: D275A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: D275A
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
| Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
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 |
|
|
R1075:Arhgap40
|
UTSW |
2 |
158,391,567 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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'- CCACAATGCTGAAAGCTGCCTG -3'
(R):5'- AGTGAACGCTGCTTGTATCTGCC -3'
Sequencing Primer
(F):5'- TCTCTACCAGGCTCATAGGCAG -3'
(R):5'- AGGCAACCCGAGTTCTCAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation