Incidental Mutation 'R2181:Arhgap28'
| ID |
237209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| MMRRC Submission |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68203112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
| AlphaFold |
Q8BN58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024840
AA Change: T164A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
RhoGAP
|
400 |
578 |
1.41e-34 |
SMART |
|
Blast:RhoGAP
|
583 |
612 |
2e-7 |
BLAST |
|
Blast:RhoGAP
|
640 |
681 |
9e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163865
AA Change: T114A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
RhoGAP
|
350 |
527 |
7.1e-31 |
SMART |
|
Blast:RhoGAP
|
532 |
561 |
1e-7 |
BLAST |
|
Blast:RhoGAP
|
589 |
630 |
8e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164647
AA Change: T114A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
RhoGAP
|
350 |
528 |
1.41e-34 |
SMART |
|
Blast:RhoGAP
|
533 |
562 |
1e-7 |
BLAST |
|
Blast:RhoGAP
|
590 |
631 |
8e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170581
|
| SMART Domains |
Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
151 |
213 |
1e-33 |
BLAST |
|
SCOP:d1tx4a_
|
182 |
235 |
1e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal bone length and ossification. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
| Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
probably damaging |
Het |
|
| Other mutations in Arhgap28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Arhgap28
|
APN |
17 |
68,152,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01388:Arhgap28
|
APN |
17 |
68,160,034 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01560:Arhgap28
|
APN |
17 |
68,203,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01578:Arhgap28
|
APN |
17 |
68,165,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01650:Arhgap28
|
APN |
17 |
68,180,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02383:Arhgap28
|
APN |
17 |
68,203,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02403:Arhgap28
|
APN |
17 |
68,180,154 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02652:Arhgap28
|
APN |
17 |
68,191,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Arhgap28
|
APN |
17 |
68,203,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Arhgap28
|
APN |
17 |
68,175,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Arhgap28
|
APN |
17 |
68,159,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Arhgap28
|
UTSW |
17 |
68,311,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4445001:Arhgap28
|
UTSW |
17 |
68,203,230 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0135:Arhgap28
|
UTSW |
17 |
68,171,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Arhgap28
|
UTSW |
17 |
68,208,424 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0385:Arhgap28
|
UTSW |
17 |
68,171,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Arhgap28
|
UTSW |
17 |
68,203,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Arhgap28
|
UTSW |
17 |
68,203,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Arhgap28
|
UTSW |
17 |
68,203,108 (GRCm39) |
splice site |
probably null |
|
|
R0691:Arhgap28
|
UTSW |
17 |
68,203,159 (GRCm39) |
splice site |
probably null |
|
|
R0811:Arhgap28
|
UTSW |
17 |
68,208,294 (GRCm39) |
small deletion |
probably benign |
|
|
R1150:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1151:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1152:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1426:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Arhgap28
|
UTSW |
17 |
68,164,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Arhgap28
|
UTSW |
17 |
68,156,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1747:Arhgap28
|
UTSW |
17 |
68,208,304 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1951:Arhgap28
|
UTSW |
17 |
68,208,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2031:Arhgap28
|
UTSW |
17 |
68,203,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Arhgap28
|
UTSW |
17 |
68,176,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3700:Arhgap28
|
UTSW |
17 |
68,208,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Arhgap28
|
UTSW |
17 |
68,180,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Arhgap28
|
UTSW |
17 |
68,203,088 (GRCm39) |
missense |
probably benign |
|
|
R4213:Arhgap28
|
UTSW |
17 |
68,178,988 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4347:Arhgap28
|
UTSW |
17 |
68,180,137 (GRCm39) |
missense |
probably benign |
|
|
R4954:Arhgap28
|
UTSW |
17 |
68,176,008 (GRCm39) |
nonsense |
probably null |
|
|
R5592:Arhgap28
|
UTSW |
17 |
68,165,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5610:Arhgap28
|
UTSW |
17 |
68,203,235 (GRCm39) |
nonsense |
probably null |
|
|
R5758:Arhgap28
|
UTSW |
17 |
68,180,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5774:Arhgap28
|
UTSW |
17 |
68,188,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6413:Arhgap28
|
UTSW |
17 |
68,182,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6661:Arhgap28
|
UTSW |
17 |
68,152,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Arhgap28
|
UTSW |
17 |
68,159,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7324:Arhgap28
|
UTSW |
17 |
68,202,879 (GRCm39) |
splice site |
probably null |
|
|
R7338:Arhgap28
|
UTSW |
17 |
68,203,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Arhgap28
|
UTSW |
17 |
68,178,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Arhgap28
|
UTSW |
17 |
68,208,277 (GRCm39) |
nonsense |
probably null |
|
|
R8516:Arhgap28
|
UTSW |
17 |
68,180,068 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9210:Arhgap28
|
UTSW |
17 |
68,162,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9212:Arhgap28
|
UTSW |
17 |
68,162,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9779:Arhgap28
|
UTSW |
17 |
68,152,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Arhgap28
|
UTSW |
17 |
68,168,272 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTCAGACCTGTTGGC -3'
(R):5'- TCTAGAAAAGGCCCTAACCTGC -3'
Sequencing Primer
(F):5'- AGCTTCCTCCGAGAGTTAACATGG -3'
(R):5'- CCTTGTTCACACTGTTTCCCAGAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation