Incidental Mutation 'R0014:Capg'
ID |
201324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capg
|
Ensembl Gene |
ENSMUSG00000056737 |
Gene Name |
capping actin protein, gelsolin like |
Synonyms |
mbh1, gCap39 |
MMRRC Submission |
038309-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R0014 (G1)
|
Quality Score |
59 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72521374-72539966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72538026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 304
(E304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070990]
[ENSMUST00000071044]
[ENSMUST00000114069]
[ENSMUST00000114071]
[ENSMUST00000114072]
[ENSMUST00000126101]
[ENSMUST00000126124]
[ENSMUST00000155188]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070990
|
SMART Domains |
Protein: ENSMUSP00000067768 Gene: ENSMUSG00000056698
Domain | Start | End | E-Value | Type |
Pfam:ELMO_CED12
|
151 |
314 |
3.3e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071044
AA Change: E304G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063389 Gene: ENSMUSG00000056737 AA Change: E304G
Domain | Start | End | E-Value | Type |
GEL
|
19 |
113 |
8.6e-27 |
SMART |
GEL
|
136 |
228 |
1.86e-31 |
SMART |
GEL
|
253 |
348 |
5.76e-28 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114069
|
SMART Domains |
Protein: ENSMUSP00000109703 Gene: ENSMUSG00000056698
Domain | Start | End | E-Value | Type |
Pfam:ELMO_CED12
|
154 |
313 |
1.2e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114071
AA Change: E304G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109705 Gene: ENSMUSG00000056737 AA Change: E304G
Domain | Start | End | E-Value | Type |
GEL
|
19 |
113 |
8.6e-27 |
SMART |
GEL
|
136 |
228 |
1.86e-31 |
SMART |
GEL
|
253 |
348 |
5.76e-28 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114072
AA Change: E304G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109706 Gene: ENSMUSG00000056737 AA Change: E304G
Domain | Start | End | E-Value | Type |
GEL
|
19 |
113 |
8.6e-27 |
SMART |
GEL
|
136 |
228 |
1.86e-31 |
SMART |
GEL
|
253 |
348 |
5.76e-28 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126101
|
SMART Domains |
Protein: ENSMUSP00000121121 Gene: ENSMUSG00000056737
Domain | Start | End | E-Value | Type |
GEL
|
19 |
113 |
8.6e-27 |
SMART |
GEL
|
136 |
228 |
1.86e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126124
|
SMART Domains |
Protein: ENSMUSP00000121221 Gene: ENSMUSG00000056737
Domain | Start | End | E-Value | Type |
GEL
|
19 |
113 |
8.6e-27 |
SMART |
GEL
|
136 |
193 |
1.19e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137435
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155188
|
SMART Domains |
Protein: ENSMUSP00000120363 Gene: ENSMUSG00000056737
Domain | Start | End | E-Value | Type |
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
Meta Mutation Damage Score |
0.1200 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Inactivation of this loci results in impaired immune cell motility which manifests in homozygous mutant mice as increased susceptibility to some bacterial infections. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
C3ar1 |
C |
T |
6: 122,827,810 (GRCm39) |
V136M |
probably damaging |
Het |
Ccdc125 |
A |
C |
13: 100,820,846 (GRCm39) |
N189T |
possibly damaging |
Het |
Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
Cd2ap |
T |
C |
17: 43,118,819 (GRCm39) |
S540G |
probably benign |
Het |
Cdt1 |
C |
T |
8: 123,299,305 (GRCm39) |
T529M |
probably benign |
Het |
Cfap126 |
A |
G |
1: 170,953,353 (GRCm39) |
D49G |
possibly damaging |
Het |
Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
Dgkd |
A |
G |
1: 87,809,603 (GRCm39) |
D97G |
probably damaging |
Het |
Dgkg |
A |
T |
16: 22,384,114 (GRCm39) |
|
probably null |
Het |
Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
Klhl28 |
T |
C |
12: 65,004,076 (GRCm39) |
T146A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
Man2c1 |
T |
A |
9: 57,046,985 (GRCm39) |
M580K |
probably benign |
Het |
Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,219,666 (GRCm39) |
S563P |
probably damaging |
Het |
Or2at4 |
T |
C |
7: 99,385,256 (GRCm39) |
V302A |
probably damaging |
Het |
Or4k51 |
A |
G |
2: 111,585,119 (GRCm39) |
D175G |
probably damaging |
Het |
Or55b3 |
A |
G |
7: 102,126,684 (GRCm39) |
I131T |
probably damaging |
Het |
P2rx5 |
T |
A |
11: 73,057,888 (GRCm39) |
|
probably benign |
Het |
Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
Ptpdc1 |
G |
T |
13: 48,740,395 (GRCm39) |
Y345* |
probably null |
Het |
Rcbtb1 |
G |
T |
14: 59,472,691 (GRCm39) |
K493N |
probably benign |
Het |
Rexo2 |
A |
T |
9: 48,385,747 (GRCm39) |
S126T |
probably benign |
Het |
Rorc |
T |
A |
3: 94,284,920 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
Syde1 |
T |
C |
10: 78,425,868 (GRCm39) |
T100A |
probably benign |
Het |
Tbc1d20 |
A |
T |
2: 152,153,701 (GRCm39) |
Q342L |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,943,831 (GRCm39) |
T150A |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,897,970 (GRCm39) |
H317R |
probably damaging |
Het |
Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,829,130 (GRCm39) |
F1029L |
possibly damaging |
Het |
Wdr7 |
A |
G |
18: 64,037,172 (GRCm39) |
T1199A |
probably benign |
Het |
Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,503,344 (GRCm39) |
F738L |
possibly damaging |
Het |
|
Other mutations in Capg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02529:Capg
|
APN |
6 |
72,532,829 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02569:Capg
|
APN |
6 |
72,538,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02613:Capg
|
APN |
6 |
72,532,594 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02629:Capg
|
APN |
6 |
72,532,737 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02964:Capg
|
APN |
6 |
72,539,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R1937:Capg
|
UTSW |
6 |
72,535,236 (GRCm39) |
splice site |
probably null |
|
R2378:Capg
|
UTSW |
6 |
72,532,474 (GRCm39) |
missense |
probably benign |
0.07 |
R4284:Capg
|
UTSW |
6 |
72,538,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R5043:Capg
|
UTSW |
6 |
72,535,237 (GRCm39) |
nonsense |
probably null |
|
R5233:Capg
|
UTSW |
6 |
72,532,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5955:Capg
|
UTSW |
6 |
72,532,483 (GRCm39) |
missense |
probably benign |
0.21 |
R6486:Capg
|
UTSW |
6 |
72,534,733 (GRCm39) |
nonsense |
probably null |
|
R6792:Capg
|
UTSW |
6 |
72,532,537 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7760:Capg
|
UTSW |
6 |
72,534,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R8241:Capg
|
UTSW |
6 |
72,533,236 (GRCm39) |
critical splice donor site |
probably null |
|
R9242:Capg
|
UTSW |
6 |
72,532,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R9243:Capg
|
UTSW |
6 |
72,538,070 (GRCm39) |
missense |
probably benign |
|
Z1176:Capg
|
UTSW |
6 |
72,532,459 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Capg
|
UTSW |
6 |
72,533,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGATTTCATACCCCAGAGACTCC -3'
(R):5'- AAGGTAAGCCGGTCTGCTCCCAATTC -3'
Sequencing Primer
(F):5'- GGACCCTTTAAGTTTCCTCAAGAG -3'
(R):5'- GGTCTGCTCCCAATTCCTGAG -3'
|
Posted On |
2014-06-02 |