Incidental Mutation 'IGL02629:Capg'
| ID |
301201 |
| 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 # |
IGL02629
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72521374-72539966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72532737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 67
(Q67L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071044]
[ENSMUST00000114071]
[ENSMUST00000114072]
[ENSMUST00000126101]
[ENSMUST00000126124]
[ENSMUST00000134809]
[ENSMUST00000155188]
[ENSMUST00000155705]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071044
AA Change: Q67L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: Q67L
| 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: ENSMUST00000114071
AA Change: Q67L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: Q67L
| 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: ENSMUST00000114072
AA Change: Q67L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: Q67L
| 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
AA Change: Q67L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: Q67L
| 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
AA Change: Q67L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737
AA Change: Q67L
| 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 |
probably benign
Transcript: ENSMUST00000134809
AA Change: Q67L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737
AA Change: Q67L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gelsolin
|
28 |
90 |
4.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155188
AA Change: Q67L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737
AA Change: Q67L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155705
AA Change: Q67L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
AA Change: Q67L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
104 |
1.27e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137435
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,445,006 (GRCm39) |
|
probably benign |
Het |
| Aadacl3 |
A |
G |
4: 144,190,199 (GRCm39) |
I34T |
possibly damaging |
Het |
| Acan |
T |
A |
7: 78,761,727 (GRCm39) |
I1979N |
possibly damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,325,121 (GRCm39) |
D701G |
probably benign |
Het |
| Arhgap31 |
C |
T |
16: 38,429,526 (GRCm39) |
G450S |
probably benign |
Het |
| Braf |
T |
C |
6: 39,665,233 (GRCm39) |
E45G |
possibly damaging |
Het |
| Btnl6 |
C |
T |
17: 34,733,442 (GRCm39) |
V178M |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,525 (GRCm39) |
N663S |
probably damaging |
Het |
| Casz1 |
T |
A |
4: 149,028,848 (GRCm39) |
S1098T |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,347,535 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,384,531 (GRCm39) |
L2583P |
probably damaging |
Het |
| Clec4a1 |
A |
C |
6: 122,909,106 (GRCm39) |
|
probably null |
Het |
| Corin |
T |
C |
5: 72,490,016 (GRCm39) |
N653S |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,414,155 (GRCm39) |
E69G |
probably benign |
Het |
| Dpy19l1 |
C |
A |
9: 24,350,009 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,574,907 (GRCm39) |
N234S |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,331 (GRCm39) |
S355G |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,686,417 (GRCm39) |
S277P |
probably damaging |
Het |
| Hadh |
T |
A |
3: 131,029,284 (GRCm39) |
D245V |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,878,134 (GRCm39) |
|
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,259,006 (GRCm39) |
|
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,875,799 (GRCm39) |
Y89C |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,817,024 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Ndufb5 |
A |
G |
3: 32,791,348 (GRCm39) |
T32A |
probably benign |
Het |
| Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Nudt6 |
A |
G |
3: 37,459,320 (GRCm39) |
Y222H |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,201 (GRCm39) |
L247* |
probably null |
Het |
| Pla2g4c |
A |
T |
7: 13,069,302 (GRCm39) |
R159* |
probably null |
Het |
| Pnpla7 |
A |
G |
2: 24,940,957 (GRCm39) |
D1103G |
probably damaging |
Het |
| Pof1b |
T |
G |
X: 111,554,934 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
C |
T |
7: 44,706,166 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
A |
G |
1: 127,837,600 (GRCm39) |
T221A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,526,541 (GRCm39) |
N1244D |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf123 |
A |
T |
9: 107,947,988 (GRCm39) |
|
probably benign |
Het |
| Rnf44 |
T |
G |
13: 54,830,875 (GRCm39) |
Q207P |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,207,437 (GRCm39) |
D200G |
probably damaging |
Het |
| Slc5a4a |
T |
A |
10: 75,983,413 (GRCm39) |
S17T |
unknown |
Het |
| Smc4 |
G |
T |
3: 68,933,206 (GRCm39) |
C609F |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,187,744 (GRCm39) |
F259L |
probably damaging |
Het |
| Tas2r113 |
T |
C |
6: 132,870,299 (GRCm39) |
L109P |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,099,743 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
C |
A |
9: 79,683,531 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,522,476 (GRCm39) |
V226A |
possibly damaging |
Het |
| Upk2 |
A |
T |
9: 44,365,436 (GRCm39) |
L44Q |
probably damaging |
Het |
| Usp42 |
T |
C |
5: 143,708,909 (GRCm39) |
Y203C |
possibly damaging |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,801 (GRCm39) |
I215F |
probably benign |
Het |
| Zswim2 |
A |
G |
2: 83,755,553 (GRCm39) |
V116A |
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 |
|
IGL02964:Capg
|
APN |
6 |
72,539,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation