Incidental Mutation 'R6792:Capg'
| ID |
532641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capg
|
| Ensembl Gene |
ENSMUSG00000056737 |
| Gene Name |
capping actin protein, gelsolin like |
| Synonyms |
mbh1, gCap39 |
| MMRRC Submission |
044905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
72521374-72539966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72532537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 34
(I34K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121121
(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: I34K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: I34K
| 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: I34K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: I34K
| 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: I34K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: I34K
| 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: ENSMUST00000126101
AA Change: I34K
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: I34K
| 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: I34K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737
AA Change: I34K
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
GEL
|
136 |
193 |
1.19e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134809
AA Change: I34K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737
AA Change: I34K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gelsolin
|
28 |
90 |
4.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155188
AA Change: I34K
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737
AA Change: I34K
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155705
AA Change: I34K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
AA Change: I34K
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
104 |
1.27e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Aldh2 |
C |
T |
5: 121,718,712 (GRCm39) |
G64R |
probably damaging |
Het |
| Atp11a |
G |
A |
8: 12,911,939 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,955,993 (GRCm39) |
D52G |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,715 (GRCm39) |
|
probably null |
Het |
| Card11 |
T |
A |
5: 140,899,064 (GRCm39) |
I37F |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,235,740 (GRCm39) |
R724L |
unknown |
Het |
| Cryl1 |
T |
C |
14: 57,620,224 (GRCm39) |
E47G |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,150,424 (GRCm39) |
D70V |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,394,455 (GRCm39) |
E1949G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,449,437 (GRCm39) |
V1387A |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,286,617 (GRCm39) |
V1233M |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,286,940 (GRCm39) |
V861E |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,304,711 (GRCm39) |
D184E |
possibly damaging |
Het |
| Fkbp14 |
G |
T |
6: 54,562,837 (GRCm39) |
S49* |
probably null |
Het |
| Ginm1 |
T |
C |
10: 7,649,747 (GRCm39) |
D182G |
probably damaging |
Het |
| Gk2 |
T |
C |
5: 97,603,588 (GRCm39) |
I417V |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
C |
T |
2: 16,155,567 (GRCm39) |
P1992L |
unknown |
Het |
| Mapk6 |
A |
T |
9: 75,302,830 (GRCm39) |
I221N |
probably damaging |
Het |
| Mup9 |
A |
G |
4: 60,377,354 (GRCm39) |
V65A |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,775,923 (GRCm39) |
D805G |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,142,096 (GRCm39) |
E316G |
possibly damaging |
Het |
| Or52a5b |
A |
G |
7: 103,417,346 (GRCm39) |
I86T |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,283 (GRCm39) |
D296E |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,978 (GRCm39) |
H1588L |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,880 (GRCm39) |
D403G |
possibly damaging |
Het |
| Pde4a |
A |
G |
9: 21,103,886 (GRCm39) |
K145R |
probably benign |
Het |
| Pik3ap1 |
A |
T |
19: 41,310,065 (GRCm39) |
D418E |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,866,852 (GRCm39) |
R217M |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,922 (GRCm39) |
N232S |
probably damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 47,015,782 (GRCm39) |
S2P |
probably benign |
Het |
| Prr5l |
T |
G |
2: 101,547,769 (GRCm39) |
N252T |
probably benign |
Het |
| Rbmyf5 |
A |
G |
Y: 3,298,867 (GRCm39) |
Y206H |
possibly damaging |
Homo |
| Rilp |
A |
T |
11: 75,403,601 (GRCm39) |
K348* |
probably null |
Het |
| Slc17a7 |
A |
G |
7: 44,824,299 (GRCm39) |
E505G |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,929,309 (GRCm39) |
M1K |
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 42,010,559 (GRCm39) |
V137E |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,597,993 (GRCm39) |
I270V |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,040,565 (GRCm39) |
A214T |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,312,051 (GRCm39) |
C321F |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,268 (GRCm39) |
D229E |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,993,547 (GRCm39) |
R692W |
probably benign |
Het |
| Tkfc |
T |
C |
19: 10,571,888 (GRCm39) |
T383A |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,846,287 (GRCm39) |
D43G |
probably benign |
Het |
| Tubgcp6 |
C |
T |
15: 89,007,080 (GRCm39) |
|
probably benign |
Het |
| Vit |
A |
T |
17: 78,886,828 (GRCm39) |
Y152F |
probably damaging |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,412 (GRCm39) |
M207K |
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 |
|
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 |
|
|
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'- CATCTCTACTTCCAAGGGCTG -3'
(R):5'- ACTGCTGGCCTAAGGTGAAC -3'
Sequencing Primer
(F):5'- TCCAAGGGCTGCTCCTC -3'
(R):5'- CTGGCCTAAGGTGAACAGGAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation