Incidental Mutation 'R6648:Arhgef38'
ID |
524341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef38
|
Ensembl Gene |
ENSMUSG00000040969 |
Gene Name |
Rho guanine nucleotide exchange factor 38 |
Synonyms |
D630013G24Rik, 9130221D24Rik |
MMRRC Submission |
044769-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6648 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
132818039-132940710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 132838236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 600
(I600N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054105]
[ENSMUST00000147041]
|
AlphaFold |
Q80VK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054105
AA Change: I17N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054558 Gene: ENSMUSG00000040969 AA Change: I17N
Domain | Start | End | E-Value | Type |
SH3
|
1 |
60 |
5.56e-1 |
SMART |
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
SH3
|
126 |
189 |
8.2e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147041
AA Change: I600N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114238 Gene: ENSMUSG00000040969 AA Change: I600N
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
RhoGEF
|
98 |
284 |
2.72e-33 |
SMART |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
BAR
|
315 |
514 |
4.8e-29 |
SMART |
SH3
|
584 |
643 |
5.56e-1 |
SMART |
low complexity region
|
678 |
689 |
N/A |
INTRINSIC |
SH3
|
709 |
768 |
1.95e-10 |
SMART |
|
Meta Mutation Damage Score |
0.1789 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
probably benign |
Het |
|
Other mutations in Arhgef38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Arhgef38
|
APN |
3 |
132,837,812 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00533:Arhgef38
|
APN |
3 |
132,822,220 (GRCm39) |
nonsense |
probably null |
|
IGL03031:Arhgef38
|
APN |
3 |
132,837,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
F5770:Arhgef38
|
UTSW |
3 |
132,855,301 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4362001:Arhgef38
|
UTSW |
3 |
132,866,591 (GRCm39) |
missense |
|
|
R0050:Arhgef38
|
UTSW |
3 |
132,837,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Arhgef38
|
UTSW |
3 |
132,837,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R0076:Arhgef38
|
UTSW |
3 |
132,866,507 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0515:Arhgef38
|
UTSW |
3 |
132,855,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0730:Arhgef38
|
UTSW |
3 |
132,843,232 (GRCm39) |
missense |
probably benign |
0.25 |
R0765:Arhgef38
|
UTSW |
3 |
132,822,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1054:Arhgef38
|
UTSW |
3 |
132,822,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R1261:Arhgef38
|
UTSW |
3 |
132,866,624 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1568:Arhgef38
|
UTSW |
3 |
132,838,225 (GRCm39) |
missense |
probably damaging |
0.98 |
R1580:Arhgef38
|
UTSW |
3 |
132,839,465 (GRCm39) |
missense |
probably benign |
0.24 |
R1716:Arhgef38
|
UTSW |
3 |
132,846,598 (GRCm39) |
missense |
probably benign |
0.35 |
R1875:Arhgef38
|
UTSW |
3 |
132,839,501 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2118:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
R2119:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
R2122:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
R2417:Arhgef38
|
UTSW |
3 |
132,852,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R3832:Arhgef38
|
UTSW |
3 |
132,912,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4657:Arhgef38
|
UTSW |
3 |
132,940,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Arhgef38
|
UTSW |
3 |
132,846,533 (GRCm39) |
critical splice donor site |
probably null |
|
R4732:Arhgef38
|
UTSW |
3 |
132,838,030 (GRCm39) |
nonsense |
probably null |
|
R4733:Arhgef38
|
UTSW |
3 |
132,838,030 (GRCm39) |
nonsense |
probably null |
|
R5059:Arhgef38
|
UTSW |
3 |
132,843,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Arhgef38
|
UTSW |
3 |
132,843,029 (GRCm39) |
missense |
probably benign |
0.14 |
R5310:Arhgef38
|
UTSW |
3 |
132,822,227 (GRCm39) |
missense |
probably damaging |
0.98 |
R5820:Arhgef38
|
UTSW |
3 |
132,866,560 (GRCm39) |
missense |
probably benign |
0.44 |
R5987:Arhgef38
|
UTSW |
3 |
132,912,719 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6115:Arhgef38
|
UTSW |
3 |
132,838,374 (GRCm39) |
splice site |
probably null |
|
R6313:Arhgef38
|
UTSW |
3 |
132,940,469 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6339:Arhgef38
|
UTSW |
3 |
132,839,423 (GRCm39) |
missense |
probably benign |
0.35 |
R6356:Arhgef38
|
UTSW |
3 |
132,846,638 (GRCm39) |
missense |
probably benign |
0.01 |
R7050:Arhgef38
|
UTSW |
3 |
132,839,388 (GRCm39) |
start gained |
probably benign |
|
R7083:Arhgef38
|
UTSW |
3 |
132,838,197 (GRCm39) |
missense |
unknown |
|
R7561:Arhgef38
|
UTSW |
3 |
132,866,489 (GRCm39) |
missense |
|
|
R7769:Arhgef38
|
UTSW |
3 |
132,855,383 (GRCm39) |
missense |
unknown |
|
R8050:Arhgef38
|
UTSW |
3 |
132,843,323 (GRCm39) |
nonsense |
probably null |
|
R8471:Arhgef38
|
UTSW |
3 |
132,940,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R8835:Arhgef38
|
UTSW |
3 |
132,837,832 (GRCm39) |
missense |
unknown |
|
R9151:Arhgef38
|
UTSW |
3 |
132,912,706 (GRCm39) |
missense |
|
|
R9154:Arhgef38
|
UTSW |
3 |
132,837,924 (GRCm39) |
missense |
unknown |
|
R9263:Arhgef38
|
UTSW |
3 |
132,866,529 (GRCm39) |
missense |
|
|
R9367:Arhgef38
|
UTSW |
3 |
132,847,998 (GRCm39) |
missense |
unknown |
|
R9628:Arhgef38
|
UTSW |
3 |
132,838,025 (GRCm39) |
missense |
unknown |
|
R9799:Arhgef38
|
UTSW |
3 |
132,855,391 (GRCm39) |
missense |
unknown |
|
Z1177:Arhgef38
|
UTSW |
3 |
132,912,722 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAGGGTTATGTGAGGGTAC -3'
(R):5'- AGCATCCACCTTGTCATGTATC -3'
Sequencing Primer
(F):5'- GGTACCATGCCCAAACACG -3'
(R):5'- ACCTTGTCATGTATCCAGATTGG -3'
|
Posted On |
2018-06-22 |