Incidental Mutation 'R0440:Arhgef4'
| ID |
46667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef4
|
| Ensembl Gene |
ENSMUSG00000037509 |
| Gene Name |
Rho guanine nucleotide exchange factor 4 |
| Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
| MMRRC Submission |
038641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0440 (G1)
|
| Quality Score |
148 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 34784529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
[ENSMUST00000162599]
|
| AlphaFold |
Q7TNR9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000159747
|
| SMART Domains |
Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1137 |
N/A |
INTRINSIC |
|
low complexity region
|
1240 |
1254 |
N/A |
INTRINSIC |
|
SH3
|
1361 |
1416 |
3.73e-16 |
SMART |
|
RhoGEF
|
1453 |
1632 |
3.86e-56 |
SMART |
|
PH
|
1665 |
1773 |
2.33e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162599
|
| SMART Domains |
Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
|
SH3
|
194 |
249 |
3.73e-16 |
SMART |
|
Pfam:RhoGEF
|
304 |
405 |
1.2e-25 |
PFAM |
|
PH
|
438 |
546 |
2.33e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
A |
15: 83,112,694 (GRCm39) |
R30W |
probably damaging |
Het |
| Adam7 |
T |
C |
14: 68,748,305 (GRCm39) |
|
probably null |
Het |
| Agl |
A |
T |
3: 116,552,455 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,114,569 (GRCm39) |
S66P |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,537,207 (GRCm39) |
D316V |
probably benign |
Het |
| App |
C |
A |
16: 84,853,302 (GRCm39) |
E259* |
probably null |
Het |
| Armc9 |
G |
A |
1: 86,121,984 (GRCm39) |
|
probably null |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,964,053 (GRCm39) |
P875S |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,483,013 (GRCm39) |
|
probably null |
Het |
| Ccar1 |
C |
T |
10: 62,616,236 (GRCm39) |
V165I |
possibly damaging |
Het |
| Ccdc106 |
A |
T |
7: 5,063,244 (GRCm39) |
I250F |
probably damaging |
Het |
| Ccny |
T |
C |
18: 9,332,917 (GRCm39) |
I205V |
probably benign |
Het |
| Cfap52 |
T |
A |
11: 67,844,914 (GRCm39) |
I52L |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,442,283 (GRCm39) |
T2096S |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,428,372 (GRCm39) |
T423I |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,703,262 (GRCm39) |
D440G |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,298,231 (GRCm39) |
V592M |
probably damaging |
Het |
| Ddx31 |
A |
T |
2: 28,747,144 (GRCm39) |
I208F |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,556,419 (GRCm39) |
|
probably null |
Het |
| Eml4 |
T |
C |
17: 83,753,487 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
A |
15: 54,710,633 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,244,315 (GRCm39) |
S38G |
possibly damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,307,680 (GRCm39) |
T15I |
probably benign |
Het |
| Gm21834 |
T |
C |
17: 58,049,121 (GRCm39) |
T32A |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,192,945 (GRCm39) |
D394G |
probably damaging |
Het |
| Gtf3c4 |
G |
T |
2: 28,730,181 (GRCm39) |
|
probably null |
Het |
| Igkv4-69 |
A |
G |
6: 69,261,253 (GRCm39) |
|
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,451,150 (GRCm39) |
R500G |
possibly damaging |
Het |
| Kif5b |
A |
T |
18: 6,226,980 (GRCm39) |
|
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,603,290 (GRCm39) |
E515G |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,186,672 (GRCm39) |
R59* |
probably null |
Het |
| Lrif1 |
A |
T |
3: 106,641,714 (GRCm39) |
Q10L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,726,295 (GRCm39) |
E908G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,747,667 (GRCm39) |
D307E |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,583 (GRCm39) |
F27L |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,074,016 (GRCm39) |
A76V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,345,771 (GRCm39) |
Y202* |
probably null |
Het |
| Naprt |
A |
G |
15: 75,762,918 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
A |
4: 43,650,315 (GRCm39) |
V960D |
probably damaging |
Het |
| Oca2 |
A |
T |
7: 56,073,100 (GRCm39) |
Y765F |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,727,939 (GRCm39) |
H220Q |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,712 (GRCm39) |
Y215* |
probably null |
Het |
| Prdm16 |
G |
A |
4: 154,561,084 (GRCm39) |
|
probably benign |
Het |
| Ptn |
A |
G |
6: 36,721,432 (GRCm39) |
S3P |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,623,331 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,831,754 (GRCm39) |
D442E |
probably benign |
Het |
| Rmdn2 |
A |
G |
17: 79,975,384 (GRCm39) |
H291R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,107,585 (GRCm39) |
I228N |
probably benign |
Het |
| Sdr9c7 |
G |
T |
10: 127,734,822 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,294,001 (GRCm39) |
N254D |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,136,807 (GRCm39) |
I132F |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,694,976 (GRCm39) |
Y274N |
probably benign |
Het |
| Slc45a2 |
A |
T |
15: 11,000,903 (GRCm39) |
M1L |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,996,874 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,785,792 (GRCm39) |
S617G |
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,554,190 (GRCm39) |
M626V |
probably damaging |
Het |
| Synpo2l |
T |
G |
14: 20,711,466 (GRCm39) |
I385L |
possibly damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,671 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,066,726 (GRCm39) |
V309A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,268 (GRCm39) |
I1235T |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,310 (GRCm39) |
I110V |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,143 (GRCm39) |
G3442S |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Zfp207 |
T |
A |
11: 80,286,333 (GRCm39) |
|
probably benign |
Het |
| Zfp748 |
A |
C |
13: 67,701,144 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Arhgef4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Arhgef4
|
APN |
1 |
34,850,777 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02376:Arhgef4
|
APN |
1 |
34,845,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Arhgef4
|
APN |
1 |
34,850,804 (GRCm39) |
nonsense |
probably null |
|
|
IGL03240:Arhgef4
|
APN |
1 |
34,845,107 (GRCm39) |
missense |
probably benign |
0.03 |
|
BB004:Arhgef4
|
UTSW |
1 |
34,846,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Arhgef4
|
UTSW |
1 |
34,846,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Arhgef4
|
UTSW |
1 |
34,771,451 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Arhgef4
|
UTSW |
1 |
34,845,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Arhgef4
|
UTSW |
1 |
34,846,080 (GRCm39) |
splice site |
probably null |
|
|
R0383:Arhgef4
|
UTSW |
1 |
34,849,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Arhgef4
|
UTSW |
1 |
34,771,403 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0893:Arhgef4
|
UTSW |
1 |
34,846,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Arhgef4
|
UTSW |
1 |
34,849,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Arhgef4
|
UTSW |
1 |
34,763,026 (GRCm39) |
missense |
unknown |
|
|
R1669:Arhgef4
|
UTSW |
1 |
34,771,239 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1780:Arhgef4
|
UTSW |
1 |
34,763,241 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1809:Arhgef4
|
UTSW |
1 |
34,849,636 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1879:Arhgef4
|
UTSW |
1 |
34,761,521 (GRCm39) |
missense |
unknown |
|
|
R1908:Arhgef4
|
UTSW |
1 |
34,763,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1919:Arhgef4
|
UTSW |
1 |
34,850,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2020:Arhgef4
|
UTSW |
1 |
34,762,891 (GRCm39) |
missense |
unknown |
|
|
R2058:Arhgef4
|
UTSW |
1 |
34,761,458 (GRCm39) |
missense |
unknown |
|
|
R2213:Arhgef4
|
UTSW |
1 |
34,846,230 (GRCm39) |
splice site |
probably null |
|
|
R2851:Arhgef4
|
UTSW |
1 |
34,763,129 (GRCm39) |
missense |
unknown |
|
|
R2852:Arhgef4
|
UTSW |
1 |
34,763,129 (GRCm39) |
missense |
unknown |
|
|
R2853:Arhgef4
|
UTSW |
1 |
34,763,129 (GRCm39) |
missense |
unknown |
|
|
R3697:Arhgef4
|
UTSW |
1 |
34,761,521 (GRCm39) |
missense |
unknown |
|
|
R4012:Arhgef4
|
UTSW |
1 |
34,764,187 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4118:Arhgef4
|
UTSW |
1 |
34,771,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Arhgef4
|
UTSW |
1 |
34,845,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Arhgef4
|
UTSW |
1 |
34,762,162 (GRCm39) |
missense |
unknown |
|
|
R4535:Arhgef4
|
UTSW |
1 |
34,762,162 (GRCm39) |
missense |
unknown |
|
|
R4581:Arhgef4
|
UTSW |
1 |
34,771,205 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4665:Arhgef4
|
UTSW |
1 |
34,845,113 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4678:Arhgef4
|
UTSW |
1 |
34,761,749 (GRCm39) |
missense |
unknown |
|
|
R4684:Arhgef4
|
UTSW |
1 |
34,850,866 (GRCm39) |
splice site |
probably null |
|
|
R4706:Arhgef4
|
UTSW |
1 |
34,771,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4745:Arhgef4
|
UTSW |
1 |
34,846,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Arhgef4
|
UTSW |
1 |
34,762,355 (GRCm39) |
missense |
unknown |
|
|
R4988:Arhgef4
|
UTSW |
1 |
34,762,535 (GRCm39) |
missense |
unknown |
|
|
R5063:Arhgef4
|
UTSW |
1 |
34,763,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5154:Arhgef4
|
UTSW |
1 |
34,771,455 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5156:Arhgef4
|
UTSW |
1 |
34,762,355 (GRCm39) |
missense |
unknown |
|
|
R5263:Arhgef4
|
UTSW |
1 |
34,764,078 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5450:Arhgef4
|
UTSW |
1 |
34,846,405 (GRCm39) |
intron |
probably benign |
|
|
R5807:Arhgef4
|
UTSW |
1 |
34,846,696 (GRCm39) |
intron |
probably benign |
|
|
R5863:Arhgef4
|
UTSW |
1 |
34,761,926 (GRCm39) |
missense |
unknown |
|
|
R6034:Arhgef4
|
UTSW |
1 |
34,760,984 (GRCm39) |
missense |
unknown |
|
|
R6034:Arhgef4
|
UTSW |
1 |
34,760,984 (GRCm39) |
missense |
unknown |
|
|
R6311:Arhgef4
|
UTSW |
1 |
34,763,062 (GRCm39) |
missense |
unknown |
|
|
R6315:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6316:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6318:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6323:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6324:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6325:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6340:Arhgef4
|
UTSW |
1 |
34,771,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Arhgef4
|
UTSW |
1 |
34,845,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:Arhgef4
|
UTSW |
1 |
34,761,533 (GRCm39) |
missense |
unknown |
|
|
R7087:Arhgef4
|
UTSW |
1 |
34,850,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7297:Arhgef4
|
UTSW |
1 |
34,846,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Arhgef4
|
UTSW |
1 |
34,848,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Arhgef4
|
UTSW |
1 |
34,771,316 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7693:Arhgef4
|
UTSW |
1 |
34,763,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7892:Arhgef4
|
UTSW |
1 |
34,760,885 (GRCm39) |
missense |
unknown |
|
|
R7895:Arhgef4
|
UTSW |
1 |
34,845,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Arhgef4
|
UTSW |
1 |
34,846,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Arhgef4
|
UTSW |
1 |
34,850,762 (GRCm39) |
missense |
probably benign |
|
|
R7973:Arhgef4
|
UTSW |
1 |
34,763,518 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7979:Arhgef4
|
UTSW |
1 |
34,760,978 (GRCm39) |
missense |
unknown |
|
|
R8160:Arhgef4
|
UTSW |
1 |
34,762,655 (GRCm39) |
missense |
unknown |
|
|
R8175:Arhgef4
|
UTSW |
1 |
34,849,455 (GRCm39) |
missense |
probably benign |
|
|
R8178:Arhgef4
|
UTSW |
1 |
34,761,983 (GRCm39) |
missense |
unknown |
|
|
R9046:Arhgef4
|
UTSW |
1 |
34,850,846 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9077:Arhgef4
|
UTSW |
1 |
34,760,824 (GRCm39) |
missense |
unknown |
|
|
R9209:Arhgef4
|
UTSW |
1 |
34,849,576 (GRCm39) |
missense |
probably benign |
|
|
R9209:Arhgef4
|
UTSW |
1 |
34,764,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9355:Arhgef4
|
UTSW |
1 |
34,849,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9489:Arhgef4
|
UTSW |
1 |
34,761,745 (GRCm39) |
missense |
unknown |
|
|
R9509:Arhgef4
|
UTSW |
1 |
34,762,772 (GRCm39) |
missense |
unknown |
|
|
R9605:Arhgef4
|
UTSW |
1 |
34,761,745 (GRCm39) |
missense |
unknown |
|
|
R9665:Arhgef4
|
UTSW |
1 |
34,849,518 (GRCm39) |
missense |
probably benign |
|
|
R9675:Arhgef4
|
UTSW |
1 |
34,845,108 (GRCm39) |
missense |
probably benign |
|
|
R9790:Arhgef4
|
UTSW |
1 |
34,832,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9791:Arhgef4
|
UTSW |
1 |
34,832,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF012:Arhgef4
|
UTSW |
1 |
34,763,565 (GRCm39) |
small deletion |
probably benign |
|
|
X0062:Arhgef4
|
UTSW |
1 |
34,763,308 (GRCm39) |
missense |
probably benign |
0.35 |
|
YA93:Arhgef4
|
UTSW |
1 |
34,771,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Arhgef4
|
UTSW |
1 |
34,844,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Arhgef4
|
UTSW |
1 |
34,762,810 (GRCm39) |
missense |
unknown |
|
|
Z1177:Arhgef4
|
UTSW |
1 |
34,763,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Arhgef4
|
UTSW |
1 |
34,762,447 (GRCm39) |
missense |
unknown |
|
|
Z1177:Arhgef4
|
UTSW |
1 |
34,762,002 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAATCTGGGCAACTGGATAAGC -3'
(R):5'- AGCCAGACCCGAGACCTTTCATAG -3'
Sequencing Primer
(F):5'- TACCAATAGCCCGTGGTCTG -3'
(R):5'- TCAGTCATCATAGCAGCATCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation