Incidental Mutation 'R9373:Arhgap27'
| ID |
709453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap27
|
| Ensembl Gene |
ENSMUSG00000034255 |
| Gene Name |
Rho GTPase activating protein 27 |
| Synonyms |
5730442P18Rik, Sh3d20, 2310069I04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R9373 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103222323-103254518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103251287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 147
(A147E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
[ENSMUST00000092557]
[ENSMUST00000107023]
[ENSMUST00000107024]
[ENSMUST00000136491]
|
| AlphaFold |
A2AB59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041272
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
117 |
180 |
3.36e-20 |
SMART |
|
low complexity region
|
246 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
448 |
543 |
2e-11 |
BLAST |
|
PH
|
552 |
644 |
2.16e-9 |
SMART |
|
low complexity region
|
658 |
674 |
N/A |
INTRINSIC |
|
PH
|
702 |
797 |
2.15e-4 |
SMART |
|
DUF4206
|
864 |
1068 |
7.51e-103 |
SMART |
|
C1
|
1005 |
1058 |
2.72e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092557
AA Change: A147E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102637
Gene: ENSMUSG00000034255
AA Change: A147E
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
9 |
68 |
1.59e-1 |
SMART |
|
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107023
|
| SMART Domains |
Protein: ENSMUSP00000102638
Gene: ENSMUSG00000034255
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
62 |
95 |
3.49e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107024
AA Change: A147E
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: A147E
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
9 |
68 |
1.59e-1 |
SMART |
|
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
WW
|
247 |
280 |
3.49e-8 |
SMART |
|
WW
|
300 |
333 |
7.44e-3 |
SMART |
|
WW
|
415 |
447 |
2.32e-4 |
SMART |
|
PH
|
478 |
595 |
1.08e-9 |
SMART |
|
Blast:RhoGAP
|
651 |
682 |
1e-6 |
BLAST |
|
RhoGAP
|
688 |
863 |
1.45e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136491
|
| SMART Domains |
Protein: ENSMUSP00000128051
Gene: ENSMUSG00000034255
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WW
|
52 |
81 |
4e-10 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2310003L06Rik |
A |
C |
5: 88,120,668 (GRCm39) |
D475A |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,906,343 (GRCm39) |
M243V |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,065,173 (GRCm39) |
N627K |
possibly damaging |
Het |
| Adal |
A |
G |
2: 120,980,703 (GRCm39) |
Y142C |
probably benign |
Het |
| Agfg2 |
A |
G |
5: 137,662,476 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
C |
T |
4: 153,516,670 (GRCm39) |
A224T |
probably benign |
Het |
| Alg1 |
T |
C |
16: 5,056,990 (GRCm39) |
F234L |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,196,985 (GRCm39) |
F360S |
|
Het |
| Cachd1 |
T |
C |
4: 100,832,067 (GRCm39) |
V743A |
possibly damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,167 (GRCm39) |
V655I |
unknown |
Het |
| Cd72 |
T |
C |
4: 43,450,141 (GRCm39) |
S256G |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,551,915 (GRCm39) |
N521K |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,672,133 (GRCm39) |
N270Y |
possibly damaging |
Het |
| Clvs2 |
A |
T |
10: 33,404,382 (GRCm39) |
V278E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,454,718 (GRCm39) |
F677S |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,462 (GRCm39) |
T241A |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epdr1 |
T |
C |
13: 19,778,707 (GRCm39) |
N130D |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,566,115 (GRCm39) |
R491W |
probably benign |
Het |
| Foxp2 |
A |
G |
6: 15,377,969 (GRCm39) |
Q160R |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,555,669 (GRCm39) |
Y515* |
probably null |
Het |
| Garin5b |
T |
C |
7: 4,760,712 (GRCm39) |
M667V |
|
Het |
| Helz2 |
G |
T |
2: 180,882,741 (GRCm39) |
N17K |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,545,038 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
C |
T |
10: 66,932,495 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Lrrn1 |
A |
C |
6: 107,545,465 (GRCm39) |
Q421P |
possibly damaging |
Het |
| Mapk1 |
A |
G |
16: 16,836,154 (GRCm39) |
I101V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,800 (GRCm39) |
E427G |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,274,999 (GRCm39) |
M433I |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,095,218 (GRCm39) |
R324W |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,126 (GRCm39) |
I443K |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,449,216 (GRCm39) |
E294G |
probably damaging |
Het |
| Or8b50 |
G |
A |
9: 38,518,142 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,750 (GRCm39) |
V212D |
probably damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,275 (GRCm39) |
Y148* |
probably null |
Het |
| Parvb |
C |
T |
15: 84,188,100 (GRCm39) |
T281I |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,502 (GRCm39) |
T1669A |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,848,456 (GRCm39) |
T14A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,261 (GRCm39) |
V1819A |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,964,435 (GRCm39) |
T260A |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,749 (GRCm39) |
R304G |
possibly damaging |
Het |
| Spem1 |
C |
T |
11: 69,712,640 (GRCm39) |
C65Y |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,053 (GRCm39) |
V665A |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,713 (GRCm39) |
A1772T |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,752,690 (GRCm39) |
V891I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,259 (GRCm39) |
D761G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,944,681 (GRCm39) |
S1053G |
probably damaging |
Het |
| Ubap2l |
A |
T |
3: 89,915,587 (GRCm39) |
Y985N |
unknown |
Het |
| Vwc2l |
A |
T |
1: 70,768,218 (GRCm39) |
H94L |
probably damaging |
Het |
| Wdr27 |
G |
A |
17: 15,154,795 (GRCm39) |
H41Y |
probably benign |
Het |
| Zfp7 |
AGTGCGGGAAAGGTTTCCACCTG |
AG |
15: 76,774,798 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arhgap27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02318:Arhgap27
|
APN |
11 |
103,223,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02946:Arhgap27
|
APN |
11 |
103,229,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03135:Arhgap27
|
APN |
11 |
103,229,891 (GRCm39) |
splice site |
probably null |
|
|
R1789:Arhgap27
|
UTSW |
11 |
103,223,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Arhgap27
|
UTSW |
11 |
103,230,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1906:Arhgap27
|
UTSW |
11 |
103,223,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2884:Arhgap27
|
UTSW |
11 |
103,251,669 (GRCm39) |
splice site |
probably null |
|
|
R2885:Arhgap27
|
UTSW |
11 |
103,251,669 (GRCm39) |
splice site |
probably null |
|
|
R3157:Arhgap27
|
UTSW |
11 |
103,224,663 (GRCm39) |
splice site |
probably null |
|
|
R4679:Arhgap27
|
UTSW |
11 |
103,251,775 (GRCm39) |
unclassified |
probably benign |
|
|
R4708:Arhgap27
|
UTSW |
11 |
103,224,388 (GRCm39) |
splice site |
probably benign |
|
|
R4926:Arhgap27
|
UTSW |
11 |
103,229,949 (GRCm39) |
splice site |
probably null |
|
|
R5980:Arhgap27
|
UTSW |
11 |
103,247,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6212:Arhgap27
|
UTSW |
11 |
103,251,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Arhgap27
|
UTSW |
11 |
103,235,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7208:Arhgap27
|
UTSW |
11 |
103,251,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Arhgap27
|
UTSW |
11 |
103,251,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7327:Arhgap27
|
UTSW |
11 |
103,251,367 (GRCm39) |
nonsense |
probably null |
|
|
R7598:Arhgap27
|
UTSW |
11 |
103,224,879 (GRCm39) |
nonsense |
probably null |
|
|
R7732:Arhgap27
|
UTSW |
11 |
103,230,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7791:Arhgap27
|
UTSW |
11 |
103,230,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7826:Arhgap27
|
UTSW |
11 |
103,229,153 (GRCm39) |
missense |
probably benign |
|
|
R7869:Arhgap27
|
UTSW |
11 |
103,251,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7949:Arhgap27
|
UTSW |
11 |
103,228,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8057:Arhgap27
|
UTSW |
11 |
103,229,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Arhgap27
|
UTSW |
11 |
103,224,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8974:Arhgap27
|
UTSW |
11 |
103,224,756 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9103:Arhgap27
|
UTSW |
11 |
103,251,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Arhgap27
|
UTSW |
11 |
103,231,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Arhgap27
|
UTSW |
11 |
103,251,511 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9787:Arhgap27
|
UTSW |
11 |
103,230,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0028:Arhgap27
|
UTSW |
11 |
103,223,854 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTCTGCTGGACTGTGAC -3'
(R):5'- AACCTCTGGCCTACGACTAC -3'
Sequencing Primer
(F):5'- AGCGACCTACCTGCTTTGG -3'
(R):5'- TACGACTACCGCTTCGTGAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation