Incidental Mutation 'R5610:Arhgap28'
| ID |
440337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap28
|
| Ensembl Gene |
ENSMUSG00000024043 |
| Gene Name |
Rho GTPase activating protein 28 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
68149708-68311115 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 68203235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 73
(Q73*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024840]
[ENSMUST00000163865]
[ENSMUST00000164647]
|
| AlphaFold |
Q8BN58 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024840
AA Change: Q123*
|
| SMART Domains |
Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: Q123*
| 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 null
Transcript: ENSMUST00000163865
AA Change: Q73*
|
| SMART Domains |
Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: Q73*
| 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 null
Transcript: ENSMUST00000164647
AA Change: Q73*
|
| SMART Domains |
Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: Q73*
| 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: 97.4%
- 20x: 95.7%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,156 (GRCm39) |
D247G |
possibly damaging |
Het |
| 1700123K08Rik |
A |
G |
5: 138,562,403 (GRCm39) |
|
probably null |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Accsl |
C |
A |
2: 93,692,118 (GRCm39) |
|
probably null |
Het |
| Adad2 |
C |
T |
8: 120,341,500 (GRCm39) |
R171C |
probably benign |
Het |
| Adgrv1 |
A |
C |
13: 81,669,236 (GRCm39) |
L2440R |
probably damaging |
Het |
| Antxr1 |
A |
G |
6: 87,232,845 (GRCm39) |
V239A |
probably damaging |
Het |
| Aoc1l2 |
G |
A |
6: 48,907,953 (GRCm39) |
V318I |
probably benign |
Het |
| Arrdc5 |
C |
T |
17: 56,604,846 (GRCm39) |
R147H |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,930,492 (GRCm39) |
Y1990H |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,148 (GRCm39) |
E494G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,119,418 (GRCm39) |
I701N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,979,217 (GRCm39) |
Y699C |
probably damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,537 (GRCm39) |
T227P |
probably benign |
Het |
| Ccr3 |
C |
A |
9: 123,829,518 (GRCm39) |
D284E |
probably damaging |
Het |
| Cdh13 |
T |
C |
8: 119,578,462 (GRCm39) |
V163A |
possibly damaging |
Het |
| CK137956 |
C |
T |
4: 127,840,440 (GRCm39) |
|
probably null |
Het |
| Cltc |
T |
C |
11: 86,612,472 (GRCm39) |
S529G |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,947,177 (GRCm39) |
P186L |
probably benign |
Het |
| Ddx11 |
A |
G |
17: 66,457,021 (GRCm39) |
K783E |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,538,288 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,486,005 (GRCm39) |
H408R |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,221 (GRCm39) |
K533R |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,406,109 (GRCm39) |
Y953* |
probably null |
Het |
| Fosl1 |
T |
A |
19: 5,505,133 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
A |
G |
6: 97,283,752 (GRCm39) |
M373T |
probably benign |
Het |
| Gm1968 |
A |
G |
16: 29,777,557 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr26 |
T |
C |
7: 131,568,694 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,303,117 (GRCm39) |
N106S |
possibly damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,429 (GRCm39) |
E546A |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,337,540 (GRCm39) |
T2450M |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,953,450 (GRCm39) |
Y1245N |
probably damaging |
Het |
| Klrb1f |
G |
A |
6: 129,031,335 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,390,156 (GRCm39) |
L37P |
probably benign |
Het |
| Lnpk |
T |
C |
2: 74,378,369 (GRCm39) |
T131A |
probably benign |
Het |
| Mob3c |
C |
T |
4: 115,690,878 (GRCm39) |
T156I |
probably benign |
Het |
| Nadk |
T |
A |
4: 155,668,628 (GRCm39) |
W100R |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,061 (GRCm39) |
I161F |
probably benign |
Het |
| Or4c107 |
A |
C |
2: 88,789,170 (GRCm39) |
D120A |
probably damaging |
Het |
| Or6c204 |
G |
A |
10: 129,022,426 (GRCm39) |
T288I |
probably damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,276 (GRCm39) |
E243G |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,315,828 (GRCm39) |
T361A |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,769,059 (GRCm39) |
Q1198K |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,550,124 (GRCm39) |
I102N |
probably damaging |
Het |
| Prss1 |
G |
A |
6: 41,438,147 (GRCm39) |
V25I |
probably benign |
Het |
| Pspc1 |
A |
G |
14: 57,015,388 (GRCm39) |
Y77H |
probably damaging |
Het |
| Rnf5 |
T |
C |
17: 34,820,712 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,811,399 (GRCm39) |
M235I |
probably benign |
Het |
| Sec24c |
A |
G |
14: 20,741,893 (GRCm39) |
Y776C |
probably damaging |
Het |
| Sharpin |
A |
G |
15: 76,234,253 (GRCm39) |
|
probably null |
Het |
| Slc12a4 |
C |
A |
8: 106,676,845 (GRCm39) |
V482L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,514,022 (GRCm39) |
|
probably null |
Het |
| Smtn |
G |
T |
11: 3,479,582 (GRCm39) |
T495N |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,991 (GRCm39) |
T171A |
probably benign |
Het |
| Sprr2e |
T |
C |
3: 92,260,399 (GRCm39) |
*77R |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,178,754 (GRCm39) |
D443E |
possibly damaging |
Het |
| Taldo1 |
T |
C |
7: 140,972,205 (GRCm39) |
V24A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,391,778 (GRCm39) |
N8K |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,577 (GRCm39) |
Y563C |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,722,593 (GRCm39) |
D1342V |
probably benign |
Het |
| Usp7 |
C |
T |
16: 8,534,374 (GRCm39) |
|
probably null |
Het |
| Wbp1 |
C |
T |
6: 83,097,216 (GRCm39) |
G75D |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,315 (GRCm39) |
V245F |
probably benign |
Het |
| Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,530 (GRCm39) |
C236S |
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 |
|
R2181:Arhgap28
|
UTSW |
17 |
68,203,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGTCTCTGACATCCCTGACG -3'
(R):5'- ACAATCTTAGCTGGCTGCCATG -3'
Sequencing Primer
(F):5'- ACGGGTTGTTTATTCTTTTTCCTCAG -3'
(R):5'- GAAGATCATGAGCTTAAGACCTTGTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation