Incidental Mutation 'IGL02964:Capg'
ID |
365491 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Capg
|
Ensembl Gene |
ENSMUSG00000056737 |
Gene Name |
capping actin protein, gelsolin like |
Synonyms |
mbh1, gCap39 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
IGL02964
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
72521374-72539966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72539827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 340
(I340N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070990]
[ENSMUST00000071044]
[ENSMUST00000114069]
[ENSMUST00000114071]
[ENSMUST00000114072]
[ENSMUST00000126101]
[ENSMUST00000141833]
|
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 |
probably damaging
Transcript: ENSMUST00000071044
AA Change: I340N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063389 Gene: ENSMUSG00000056737 AA Change: I340N
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 |
probably damaging
Transcript: ENSMUST00000114071
AA Change: I340N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109705 Gene: ENSMUSG00000056737 AA Change: I340N
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 damaging
Transcript: ENSMUST00000114072
AA Change: I340N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109706 Gene: ENSMUSG00000056737 AA Change: I340N
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 |
noncoding transcript
Transcript: ENSMUST00000127770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141833
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
T |
C |
11: 94,242,636 (GRCm39) |
I1364V |
possibly damaging |
Het |
Adamts19 |
T |
A |
18: 59,122,037 (GRCm39) |
I813K |
probably damaging |
Het |
Adamtsl1 |
G |
T |
4: 86,342,594 (GRCm39) |
C1703F |
probably damaging |
Het |
Atp2b4 |
T |
A |
1: 133,658,303 (GRCm39) |
T536S |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,719,749 (GRCm39) |
M567K |
probably damaging |
Het |
Chmp1a |
T |
C |
8: 123,934,806 (GRCm39) |
E50G |
probably damaging |
Het |
Cryba1 |
T |
C |
11: 77,610,207 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,965,735 (GRCm39) |
Y2356N |
probably damaging |
Het |
Ercc6 |
T |
G |
14: 32,292,060 (GRCm39) |
S1141R |
probably benign |
Het |
Exd2 |
T |
A |
12: 80,527,302 (GRCm39) |
V165D |
probably damaging |
Het |
Fbln1 |
A |
T |
15: 85,115,663 (GRCm39) |
E233V |
probably damaging |
Het |
Ftsj3 |
T |
C |
11: 106,143,163 (GRCm39) |
K384E |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,439,962 (GRCm39) |
I188V |
probably benign |
Het |
Gm42742 |
A |
T |
7: 126,616,018 (GRCm39) |
S26T |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,759,542 (GRCm39) |
D449E |
probably damaging |
Het |
Igfbp7 |
C |
T |
5: 77,499,188 (GRCm39) |
S239N |
possibly damaging |
Het |
Klf11 |
C |
T |
12: 24,705,626 (GRCm39) |
A360V |
probably damaging |
Het |
Kmt2e |
T |
A |
5: 23,672,098 (GRCm39) |
|
probably benign |
Het |
Magea8 |
A |
T |
X: 153,769,678 (GRCm39) |
C144S |
probably damaging |
Het |
Med4 |
A |
G |
14: 73,755,361 (GRCm39) |
Q223R |
probably damaging |
Het |
Mmd2 |
G |
T |
5: 142,555,232 (GRCm39) |
F153L |
probably damaging |
Het |
Nav3 |
C |
A |
10: 109,572,814 (GRCm39) |
R1615L |
probably damaging |
Het |
Nisch |
A |
G |
14: 30,902,769 (GRCm39) |
|
probably benign |
Het |
Nr1i3 |
A |
T |
1: 171,041,964 (GRCm39) |
Y16F |
probably benign |
Het |
Or5w1 |
C |
A |
2: 87,487,058 (GRCm39) |
C69F |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,550 (GRCm39) |
R122* |
probably null |
Het |
Or7g16 |
A |
G |
9: 18,727,024 (GRCm39) |
C189R |
probably damaging |
Het |
Or8g34 |
A |
G |
9: 39,373,077 (GRCm39) |
T117A |
possibly damaging |
Het |
Ppil6 |
C |
A |
10: 41,383,479 (GRCm39) |
H252N |
probably benign |
Het |
Ppp6r2 |
C |
T |
15: 89,143,378 (GRCm39) |
P175L |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
Rbm20 |
C |
A |
19: 53,802,133 (GRCm39) |
L214I |
probably benign |
Het |
Rhox2f |
T |
C |
X: 36,753,334 (GRCm39) |
V24A |
probably benign |
Het |
Scnm1 |
T |
C |
3: 95,040,348 (GRCm39) |
K96E |
probably benign |
Het |
Sec16a |
A |
C |
2: 26,309,735 (GRCm39) |
D2090E |
probably benign |
Het |
Smg6 |
T |
C |
11: 74,821,576 (GRCm39) |
|
probably null |
Het |
Snx2 |
T |
C |
18: 53,327,630 (GRCm39) |
S119P |
probably benign |
Het |
Stam |
A |
G |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
Sult2b1 |
T |
A |
7: 45,384,698 (GRCm39) |
E126V |
probably benign |
Het |
Tor1aip1 |
T |
C |
1: 155,911,590 (GRCm39) |
E131G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,619,040 (GRCm39) |
C14367Y |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,135,131 (GRCm39) |
F821S |
possibly damaging |
Het |
Vmn1r32 |
T |
C |
6: 66,529,922 (GRCm39) |
N285D |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,718,741 (GRCm39) |
L698P |
possibly damaging |
Het |
Wnt8a |
T |
A |
18: 34,675,474 (GRCm39) |
L18Q |
possibly damaging |
Het |
Zfp747 |
T |
C |
7: 126,973,666 (GRCm39) |
E168G |
probably benign |
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 |
R0014:Capg
|
UTSW |
6 |
72,538,026 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
|
Posted On |
2015-12-18 |