Incidental Mutation 'R6764:Arhgef25'
| ID |
531825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef25
|
| Ensembl Gene |
ENSMUSG00000019467 |
| Gene Name |
Rho guanine nucleotide exchange factor 25 |
| Synonyms |
GEFT, D10Ertd610e, 2410008H17Rik |
| MMRRC Submission |
044880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R6764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127018394-127025952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127019970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 423
(F423L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019611]
[ENSMUST00000095270]
[ENSMUST00000167353]
[ENSMUST00000218587]
[ENSMUST00000218654]
[ENSMUST00000219245]
[ENSMUST00000222006]
[ENSMUST00000222911]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019611
AA Change: F423L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467
AA Change: F423L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
171 |
N/A |
INTRINSIC |
|
RhoGEF
|
203 |
374 |
2.45e-49 |
SMART |
|
PH
|
394 |
507 |
6.67e-1 |
SMART |
|
low complexity region
|
561 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095270
|
| SMART Domains |
Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:Sulfate_transp
|
105 |
497 |
5.5e-103 |
PFAM |
|
low complexity region
|
512 |
522 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
549 |
664 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167353
AA Change: F414L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
AA Change: F414L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
162 |
N/A |
INTRINSIC |
|
RhoGEF
|
194 |
365 |
2.45e-49 |
SMART |
|
PH
|
385 |
498 |
6.67e-1 |
SMART |
|
low complexity region
|
552 |
560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218587
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218654
AA Change: F384L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219245
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222006
AA Change: F423L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222911
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the second heart field exhibit normal cardiac development and prenatal survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
G |
T |
11: 53,290,657 (GRCm39) |
R539L |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,389,441 (GRCm39) |
Y1147N |
probably damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,181 (GRCm39) |
D571E |
probably benign |
Het |
| Bank1 |
A |
G |
3: 135,948,701 (GRCm39) |
S159P |
probably damaging |
Het |
| Bcan |
C |
A |
3: 87,895,685 (GRCm39) |
R817L |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,304,014 (GRCm39) |
S1990P |
possibly damaging |
Het |
| Ccna1 |
G |
A |
3: 54,953,499 (GRCm39) |
T368M |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,038,056 (GRCm39) |
|
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,416,589 (GRCm39) |
H136R |
possibly damaging |
Het |
| Dner |
T |
G |
1: 84,472,502 (GRCm39) |
D366A |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,113,770 (GRCm39) |
S1307P |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,966,402 (GRCm39) |
N720K |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,355,560 (GRCm39) |
E667G |
unknown |
Het |
| Gm4846 |
A |
G |
1: 166,319,121 (GRCm39) |
C206R |
probably benign |
Het |
| Grpel1 |
G |
A |
5: 36,622,569 (GRCm39) |
R11H |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,174,056 (GRCm39) |
Y55C |
probably damaging |
Het |
| Hephl1 |
G |
A |
9: 15,000,217 (GRCm39) |
T345I |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,103,605 (GRCm39) |
K1150N |
probably benign |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Musk |
T |
C |
4: 58,354,027 (GRCm39) |
V360A |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,314,185 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
G |
T |
6: 120,175,011 (GRCm39) |
A51S |
probably benign |
Het |
| Nscme3l |
A |
G |
19: 5,552,900 (GRCm39) |
S294P |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,732 (GRCm39) |
Y182H |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,059 (GRCm39) |
F916S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,188,238 (GRCm39) |
M194L |
probably benign |
Het |
| Sigirr |
C |
T |
7: 140,673,155 (GRCm39) |
V99I |
probably benign |
Het |
| Smco2 |
A |
G |
6: 146,772,827 (GRCm39) |
D343G |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,674,234 (GRCm39) |
I584T |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,179,011 (GRCm39) |
Q4488* |
probably null |
Het |
| Tbc1d24 |
A |
C |
17: 24,404,754 (GRCm39) |
F130C |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,686,340 (GRCm39) |
V296A |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,780,460 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,046 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,552,695 (GRCm39) |
S854P |
probably damaging |
Het |
| Zfp330 |
C |
T |
8: 83,493,934 (GRCm39) |
C109Y |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,759,175 (GRCm39) |
G498D |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,105,996 (GRCm39) |
D29G |
probably damaging |
Het |
|
| Other mutations in Arhgef25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Arhgef25
|
APN |
10 |
127,020,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Arhgef25
|
APN |
10 |
127,021,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Arhgef25
|
APN |
10 |
127,021,794 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0021:Arhgef25
|
UTSW |
10 |
127,025,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0038:Arhgef25
|
UTSW |
10 |
127,022,734 (GRCm39) |
splice site |
probably benign |
|
|
R0038:Arhgef25
|
UTSW |
10 |
127,022,734 (GRCm39) |
splice site |
probably benign |
|
|
R0106:Arhgef25
|
UTSW |
10 |
127,019,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0242:Arhgef25
|
UTSW |
10 |
127,019,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Arhgef25
|
UTSW |
10 |
127,019,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Arhgef25
|
UTSW |
10 |
127,020,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Arhgef25
|
UTSW |
10 |
127,019,566 (GRCm39) |
missense |
probably null |
0.03 |
|
R0676:Arhgef25
|
UTSW |
10 |
127,019,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1185:Arhgef25
|
UTSW |
10 |
127,019,650 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1185:Arhgef25
|
UTSW |
10 |
127,019,650 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1185:Arhgef25
|
UTSW |
10 |
127,019,650 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1600:Arhgef25
|
UTSW |
10 |
127,021,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1846:Arhgef25
|
UTSW |
10 |
127,021,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Arhgef25
|
UTSW |
10 |
127,021,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Arhgef25
|
UTSW |
10 |
127,025,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2496:Arhgef25
|
UTSW |
10 |
127,023,063 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3836:Arhgef25
|
UTSW |
10 |
127,025,605 (GRCm39) |
missense |
probably benign |
|
|
R3837:Arhgef25
|
UTSW |
10 |
127,025,605 (GRCm39) |
missense |
probably benign |
|
|
R3838:Arhgef25
|
UTSW |
10 |
127,025,605 (GRCm39) |
missense |
probably benign |
|
|
R3839:Arhgef25
|
UTSW |
10 |
127,025,605 (GRCm39) |
missense |
probably benign |
|
|
R3950:Arhgef25
|
UTSW |
10 |
127,021,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Arhgef25
|
UTSW |
10 |
127,023,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Arhgef25
|
UTSW |
10 |
127,018,802 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4964:Arhgef25
|
UTSW |
10 |
127,021,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5192:Arhgef25
|
UTSW |
10 |
127,020,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Arhgef25
|
UTSW |
10 |
127,020,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Arhgef25
|
UTSW |
10 |
127,023,143 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6301:Arhgef25
|
UTSW |
10 |
127,021,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7096:Arhgef25
|
UTSW |
10 |
127,019,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Arhgef25
|
UTSW |
10 |
127,019,641 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7482:Arhgef25
|
UTSW |
10 |
127,021,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8170:Arhgef25
|
UTSW |
10 |
127,023,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Arhgef25
|
UTSW |
10 |
127,025,632 (GRCm39) |
missense |
unknown |
|
|
R8477:Arhgef25
|
UTSW |
10 |
127,020,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Arhgef25
|
UTSW |
10 |
127,018,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Arhgef25
|
UTSW |
10 |
127,019,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Arhgef25
|
UTSW |
10 |
127,019,089 (GRCm39) |
missense |
probably benign |
|
|
R9654:Arhgef25
|
UTSW |
10 |
127,021,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Arhgef25
|
UTSW |
10 |
127,019,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Arhgef25
|
UTSW |
10 |
127,019,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCTGCAAGCCCTTCCAC -3'
(R):5'- GAATTACCTCCTTGGGCGTG -3'
Sequencing Primer
(F):5'- AAAAGCCTGAGCCTCGCG -3'
(R):5'- GGGGAGAGAAGCTGATGATTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation