Incidental Mutation 'R3916:Arhgef18'
| ID |
309741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef18
|
| Ensembl Gene |
ENSMUSG00000004568 |
| Gene Name |
rho/rac guanine nucleotide exchange factor (GEF) 18 |
| Synonyms |
D030053O22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
3393006-3456601 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3454197 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 939
(F939L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004684]
[ENSMUST00000004686]
[ENSMUST00000111081]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004684
AA Change: F939L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568
AA Change: F939L
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
105 |
297 |
2.62e-58 |
SMART |
|
PH
|
340 |
443 |
5.57e-12 |
SMART |
|
low complexity region
|
446 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
897 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004686
|
| SMART Domains |
Protein: ENSMUSP00000004686
Gene: ENSMUSG00000069633
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
4 |
230 |
4.5e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111081
|
| SMART Domains |
Protein: ENSMUSP00000106710
Gene: ENSMUSG00000069633
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
1 |
151 |
4.2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207266
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit greatly reduced viability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
G |
2: 68,731,985 |
F319V |
possibly damaging |
Het |
| Acad12 |
A |
G |
5: 121,599,214 |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 46,060,935 |
E37G |
probably benign |
Het |
| Anks3 |
A |
G |
16: 4,947,279 |
Y423H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,189,443 |
V600D |
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,633,033 |
N127S |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,342,653 |
S2100G |
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,603,075 |
V93A |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,935,652 |
V1283A |
possibly damaging |
Het |
| Bpifb5 |
A |
C |
2: 154,228,181 |
K184Q |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 |
A1060T |
probably benign |
Het |
| Cant1 |
A |
G |
11: 118,408,746 |
V259A |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,426,825 |
D81G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 |
|
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 112,875,533 |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,508,611 |
Y567* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 71,996,037 |
F256Y |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,534,480 |
R205W |
possibly damaging |
Het |
| Dopey1 |
G |
A |
9: 86,521,133 |
R1462H |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,249,372 |
T377A |
probably damaging |
Het |
| F2 |
G |
A |
2: 91,625,488 |
T600M |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,430,734 |
H308Y |
probably damaging |
Het |
| Fkbp2 |
C |
A |
19: 6,978,557 |
|
probably null |
Het |
| Gabarapl2 |
T |
A |
8: 111,952,396 |
F115L |
probably benign |
Het |
| Heatr3 |
T |
G |
8: 88,150,371 |
|
probably null |
Het |
| Ifi204 |
T |
G |
1: 173,755,775 |
K292N |
possibly damaging |
Het |
| Itpkc |
A |
T |
7: 27,228,303 |
I62N |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,304,164 |
|
probably null |
Het |
| Krt88 |
G |
A |
15: 101,452,928 |
|
probably null |
Het |
| Larp4 |
C |
T |
15: 99,990,403 |
T107I |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 101,929,342 |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,455,518 |
Y3174C |
possibly damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,583,035 |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 108,084,295 |
I575V |
probably benign |
Het |
| Myh7 |
C |
A |
14: 54,974,046 |
E1555D |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 72,667,811 |
C608* |
probably null |
Het |
| Obox3 |
C |
A |
7: 15,627,226 |
C38F |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,126,248 |
D441G |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,448,545 |
I235F |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,030,788 |
V259A |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,277,613 |
T1590A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 142,051,244 |
D817E |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,600,458 |
F482S |
probably damaging |
Het |
| Slc35a5 |
G |
C |
16: 45,158,158 |
|
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,562,308 |
I346V |
probably benign |
Het |
| Slu7 |
G |
T |
11: 43,440,684 |
|
probably null |
Het |
| Spns1 |
A |
T |
7: 126,371,539 |
|
probably null |
Het |
| Supv3l1 |
T |
C |
10: 62,449,420 |
D89G |
possibly damaging |
Het |
| Taf1c |
G |
A |
8: 119,600,505 |
R412W |
probably damaging |
Het |
| Tctn3 |
T |
A |
19: 40,607,649 |
T305S |
possibly damaging |
Het |
| Tekt1 |
A |
G |
11: 72,345,748 |
I296T |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,486,055 |
K873E |
possibly damaging |
Het |
| Thada |
G |
A |
17: 84,441,782 |
A587V |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,985,996 |
N712Y |
probably damaging |
Het |
| Tnks |
A |
G |
8: 34,853,361 |
S719P |
probably damaging |
Het |
| Tnrc6a |
A |
C |
7: 123,181,384 |
Q1332H |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,283,734 |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,153,519 |
K221E |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 104,054,190 |
C227S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 |
P46S |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,677,495 |
C2925R |
probably benign |
Het |
| Vmn2r83 |
G |
A |
10: 79,478,910 |
G331R |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,511,422 |
V1336F |
probably benign |
Het |
| Zbed5 |
T |
C |
5: 129,902,277 |
Y356H |
possibly damaging |
Het |
|
| Other mutations in Arhgef18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Arhgef18
|
APN |
8 |
3,429,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01649:Arhgef18
|
APN |
8 |
3,441,211 (GRCm38) |
splice site |
probably benign |
|
|
IGL01736:Arhgef18
|
APN |
8 |
3,451,624 (GRCm38) |
splice site |
probably benign |
|
|
IGL02206:Arhgef18
|
APN |
8 |
3,445,034 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02401:Arhgef18
|
APN |
8 |
3,437,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02938:Arhgef18
|
APN |
8 |
3,450,802 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02943:Arhgef18
|
APN |
8 |
3,448,553 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02990:Arhgef18
|
APN |
8 |
3,444,904 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03162:Arhgef18
|
APN |
8 |
3,441,301 (GRCm38) |
splice site |
probably null |
|
|
R1622:Arhgef18
|
UTSW |
8 |
3,441,272 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1681:Arhgef18
|
UTSW |
8 |
3,439,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1726:Arhgef18
|
UTSW |
8 |
3,454,228 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R2126:Arhgef18
|
UTSW |
8 |
3,451,939 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2161:Arhgef18
|
UTSW |
8 |
3,439,575 (GRCm38) |
nonsense |
probably null |
|
|
R2878:Arhgef18
|
UTSW |
8 |
3,432,759 (GRCm38) |
missense |
probably benign |
|
|
R4231:Arhgef18
|
UTSW |
8 |
3,450,317 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4233:Arhgef18
|
UTSW |
8 |
3,450,317 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4234:Arhgef18
|
UTSW |
8 |
3,450,317 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4235:Arhgef18
|
UTSW |
8 |
3,450,317 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4236:Arhgef18
|
UTSW |
8 |
3,450,317 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4450:Arhgef18
|
UTSW |
8 |
3,437,097 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4539:Arhgef18
|
UTSW |
8 |
3,447,070 (GRCm38) |
missense |
probably benign |
|
|
R4670:Arhgef18
|
UTSW |
8 |
3,434,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4753:Arhgef18
|
UTSW |
8 |
3,444,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4897:Arhgef18
|
UTSW |
8 |
3,444,979 (GRCm38) |
missense |
probably benign |
|
|
R5313:Arhgef18
|
UTSW |
8 |
3,451,629 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5698:Arhgef18
|
UTSW |
8 |
3,439,499 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5781:Arhgef18
|
UTSW |
8 |
3,439,439 (GRCm38) |
splice site |
probably null |
|
|
R5851:Arhgef18
|
UTSW |
8 |
3,434,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5897:Arhgef18
|
UTSW |
8 |
3,439,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5908:Arhgef18
|
UTSW |
8 |
3,453,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6123:Arhgef18
|
UTSW |
8 |
3,437,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6136:Arhgef18
|
UTSW |
8 |
3,454,507 (GRCm38) |
missense |
probably benign |
|
|
R6240:Arhgef18
|
UTSW |
8 |
3,439,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6617:Arhgef18
|
UTSW |
8 |
3,439,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7575:Arhgef18
|
UTSW |
8 |
3,451,635 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7851:Arhgef18
|
UTSW |
8 |
3,448,409 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7947:Arhgef18
|
UTSW |
8 |
3,432,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8030:Arhgef18
|
UTSW |
8 |
3,439,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8848:Arhgef18
|
UTSW |
8 |
3,427,481 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9038:Arhgef18
|
UTSW |
8 |
3,453,257 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9131:Arhgef18
|
UTSW |
8 |
3,437,007 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9229:Arhgef18
|
UTSW |
8 |
3,429,314 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9599:Arhgef18
|
UTSW |
8 |
3,432,718 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9794:Arhgef18
|
UTSW |
8 |
3,451,634 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0021:Arhgef18
|
UTSW |
8 |
3,434,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Arhgef18
|
UTSW |
8 |
3,439,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Arhgef18
|
UTSW |
8 |
3,453,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTGACACTGAGTGACTCC -3'
(R):5'- ATGTGCCTCCGAACTTGAAGG -3'
Sequencing Primer
(F):5'- TGACACTGAGTGACTCCATGCC -3'
(R):5'- TCCGAACTTGAAGGCCTCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation