Incidental Mutation 'R0041:Arhgef15'
| ID |
64711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef15
|
| Ensembl Gene |
ENSMUSG00000052921 |
| Gene Name |
Rho guanine nucleotide exchange factor 15 |
| Synonyms |
D530030K12Rik |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68833981-68848306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68845342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 170
(L170Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065040]
[ENSMUST00000108671]
|
| AlphaFold |
Q5FWH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065040
AA Change: L170Q
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921
AA Change: L170Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
|
RhoGEF
|
429 |
608 |
1.76e-50 |
SMART |
|
low complexity region
|
670 |
680 |
N/A |
INTRINSIC |
|
Blast:RhoGEF
|
688 |
746 |
1e-22 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108670
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108671
AA Change: L170Q
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921
AA Change: L170Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
|
RhoGEF
|
429 |
608 |
1.76e-50 |
SMART |
|
low complexity region
|
670 |
680 |
N/A |
INTRINSIC |
|
Blast:RhoGEF
|
688 |
746 |
1e-22 |
BLAST |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (58/60) |
| 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. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock out allele exhibit increased excitatory synapse formation. Mice homozygous for a knock-out allele exhibit delayed radial growth, sparse vasculature and empty baselment membrane sleeves in the retina. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
| AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
| Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
| Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
| Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
| Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
| Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
|
| Other mutations in Arhgef15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Arhgef15
|
APN |
11 |
68,844,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02382:Arhgef15
|
APN |
11 |
68,844,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0208:Arhgef15
|
UTSW |
11 |
68,837,199 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0276:Arhgef15
|
UTSW |
11 |
68,844,298 (GRCm39) |
splice site |
probably benign |
|
|
R0368:Arhgef15
|
UTSW |
11 |
68,845,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0706:Arhgef15
|
UTSW |
11 |
68,845,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Arhgef15
|
UTSW |
11 |
68,835,640 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1966:Arhgef15
|
UTSW |
11 |
68,845,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Arhgef15
|
UTSW |
11 |
68,838,507 (GRCm39) |
splice site |
probably null |
|
|
R2278:Arhgef15
|
UTSW |
11 |
68,842,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Arhgef15
|
UTSW |
11 |
68,845,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4836:Arhgef15
|
UTSW |
11 |
68,840,751 (GRCm39) |
intron |
probably benign |
|
|
R4898:Arhgef15
|
UTSW |
11 |
68,842,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4966:Arhgef15
|
UTSW |
11 |
68,838,143 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5304:Arhgef15
|
UTSW |
11 |
68,838,063 (GRCm39) |
missense |
probably null |
0.32 |
|
R5333:Arhgef15
|
UTSW |
11 |
68,838,022 (GRCm39) |
intron |
probably benign |
|
|
R5546:Arhgef15
|
UTSW |
11 |
68,844,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5632:Arhgef15
|
UTSW |
11 |
68,844,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5707:Arhgef15
|
UTSW |
11 |
68,845,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5839:Arhgef15
|
UTSW |
11 |
68,844,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5926:Arhgef15
|
UTSW |
11 |
68,842,781 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6376:Arhgef15
|
UTSW |
11 |
68,845,796 (GRCm39) |
missense |
unknown |
|
|
R6429:Arhgef15
|
UTSW |
11 |
68,838,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Arhgef15
|
UTSW |
11 |
68,840,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Arhgef15
|
UTSW |
11 |
68,845,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7460:Arhgef15
|
UTSW |
11 |
68,837,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Arhgef15
|
UTSW |
11 |
68,844,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Arhgef15
|
UTSW |
11 |
68,837,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Arhgef15
|
UTSW |
11 |
68,844,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7919:Arhgef15
|
UTSW |
11 |
68,838,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8488:Arhgef15
|
UTSW |
11 |
68,838,496 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8818:Arhgef15
|
UTSW |
11 |
68,841,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9415:Arhgef15
|
UTSW |
11 |
68,842,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Arhgef15
|
UTSW |
11 |
68,845,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Arhgef15
|
UTSW |
11 |
68,835,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCGACTATCTGCAAACTCTAAG -3'
(R):5'- TAGAACCAGCCTGGACTCTCAGAC -3'
Sequencing Primer
(F):5'- TCTACACTAGAAGAAATGTTAGCCC -3'
(R):5'- AGTCCCAGCCCAGTGTC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation