Incidental Mutation 'R6115:Arhgef38'
| ID |
485065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef38
|
| Ensembl Gene |
ENSMUSG00000040969 |
| Gene Name |
Rho guanine nucleotide exchange factor 38 |
| Synonyms |
D630013G24Rik, 9130221D24Rik |
| MMRRC Submission |
044264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
132818039-132940710 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 132838374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054105]
[ENSMUST00000147041]
|
| AlphaFold |
Q80VK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054105
|
| SMART Domains |
Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
| 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 null
Transcript: ENSMUST00000147041
|
| SMART Domains |
Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
C |
G |
5: 64,055,317 (GRCm39) |
Q18E |
probably damaging |
Het |
| Acsf3 |
T |
A |
8: 123,517,411 (GRCm39) |
H402Q |
probably damaging |
Het |
| Adam34 |
T |
G |
8: 44,105,098 (GRCm39) |
Q182H |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,864,304 (GRCm39) |
P55L |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,629,999 (GRCm39) |
N514S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,518,072 (GRCm39) |
T317S |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,822 (GRCm39) |
V256A |
probably benign |
Het |
| Dhx29 |
A |
T |
13: 113,089,335 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
A |
11: 69,337,475 (GRCm39) |
D3209Y |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,194 (GRCm39) |
T3919A |
probably benign |
Het |
| F7 |
T |
A |
8: 13,083,958 (GRCm39) |
N214K |
probably benign |
Het |
| Fam3b |
T |
G |
16: 97,276,568 (GRCm39) |
Q177H |
possibly damaging |
Het |
| Fign |
T |
C |
2: 63,809,654 (GRCm39) |
I539V |
probably benign |
Het |
| Hc |
T |
G |
2: 34,903,050 (GRCm39) |
D1067A |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,397,116 (GRCm39) |
E305D |
possibly damaging |
Het |
| Il16 |
G |
A |
7: 83,301,775 (GRCm39) |
Q116* |
probably null |
Het |
| Kif13a |
T |
A |
13: 46,954,789 (GRCm39) |
I648F |
probably damaging |
Het |
| Lactb |
G |
T |
9: 66,874,969 (GRCm39) |
N374K |
possibly damaging |
Het |
| Lmx1b |
T |
C |
2: 33,459,118 (GRCm39) |
D145G |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,937 (GRCm39) |
D199G |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,522,444 (GRCm39) |
V307E |
possibly damaging |
Het |
| Magi1 |
A |
C |
6: 93,685,051 (GRCm39) |
S776A |
possibly damaging |
Het |
| Mthfsl |
T |
A |
9: 88,570,807 (GRCm39) |
*147L |
probably null |
Het |
| Nsmce4a |
G |
T |
7: 130,148,722 (GRCm39) |
Q95K |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,458,963 (GRCm39) |
M118L |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,558 (GRCm39) |
T265A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,494,987 (GRCm39) |
K139* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,948 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,788 (GRCm39) |
E271G |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,596 (GRCm39) |
F551I |
possibly damaging |
Het |
| Prpf31 |
T |
C |
7: 3,642,705 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,236,742 (GRCm39) |
V220I |
possibly damaging |
Het |
| Rnf170 |
T |
C |
8: 26,615,994 (GRCm39) |
F95S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,393,973 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,141 (GRCm39) |
|
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,376,132 (GRCm39) |
Y406F |
probably damaging |
Het |
| Stk32c |
G |
T |
7: 138,700,628 (GRCm39) |
Y200* |
probably null |
Het |
| Svil |
A |
G |
18: 5,108,675 (GRCm39) |
R1938G |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,409 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,264,170 (GRCm39) |
M633L |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,605,185 (GRCm39) |
D61G |
possibly damaging |
Het |
| Unc5b |
C |
A |
10: 60,613,325 (GRCm39) |
A304S |
probably benign |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,462 (GRCm39) |
S221T |
possibly damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,258,672 (GRCm39) |
Y461S |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,800 (GRCm39) |
F226L |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,667,148 (GRCm39) |
I151T |
probably damaging |
Het |
| Zfp110 |
A |
T |
7: 12,583,701 (GRCm39) |
Q783L |
probably damaging |
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 |
|
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 |
|
R6648:Arhgef38
|
UTSW |
3 |
132,838,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAACCACCTGCTTGTACTCC -3'
(R):5'- TCTACAACACTGCCCTCATG -3'
Sequencing Primer
(F):5'- GGATCCTTCTGTTCCAGGACAG -3'
(R):5'- GCCCTCATGTGCTTACTCGAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation