Incidental Mutation 'R8241:Capg'
| ID |
637551 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
72521374-72539966 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 72533236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071044]
[ENSMUST00000071044]
[ENSMUST00000114071]
[ENSMUST00000114071]
[ENSMUST00000114072]
[ENSMUST00000114072]
[ENSMUST00000126101]
[ENSMUST00000126101]
[ENSMUST00000126124]
[ENSMUST00000126124]
[ENSMUST00000134809]
[ENSMUST00000155188]
[ENSMUST00000155705]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071044
|
| SMART Domains |
Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
| 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 null
Transcript: ENSMUST00000071044
|
| SMART Domains |
Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
| 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 null
Transcript: ENSMUST00000114071
|
| SMART Domains |
Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
| 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 null
Transcript: ENSMUST00000114071
|
| SMART Domains |
Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
| 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 null
Transcript: ENSMUST00000114072
|
| SMART Domains |
Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
| 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 null
Transcript: ENSMUST00000114072
|
| SMART Domains |
Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
| 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 null
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 null
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 null
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 |
probably null
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 |
probably benign
Transcript: ENSMUST00000134809
|
| SMART Domains |
Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gelsolin
|
28 |
90 |
4.5e-14 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155705
|
| SMART Domains |
Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
104 |
1.27e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 98.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,079,456 (GRCm39) |
R1233G |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,297 (GRCm39) |
I474F |
possibly damaging |
Het |
| Adora1 |
A |
T |
1: 134,131,062 (GRCm39) |
V203D |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,290,998 (GRCm39) |
S653G |
probably benign |
Het |
| Agtr1a |
T |
C |
13: 30,565,082 (GRCm39) |
V49A |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,659 (GRCm39) |
V1981A |
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,565,098 (GRCm39) |
Y690D |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,590,214 (GRCm39) |
I651V |
probably benign |
Het |
| Brms1 |
C |
T |
19: 5,096,007 (GRCm39) |
A27V |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,168,282 (GRCm39) |
V256A |
probably benign |
Het |
| Chpt1 |
T |
C |
10: 88,288,953 (GRCm39) |
K154E |
|
Het |
| Cyp1b1 |
T |
C |
17: 80,021,223 (GRCm39) |
E173G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw27 |
T |
G |
9: 109,602,283 (GRCm39) |
N230T |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,585 (GRCm39) |
T126A |
probably benign |
Het |
| Fut10 |
C |
A |
8: 31,750,034 (GRCm39) |
S440* |
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,234,576 (GRCm39) |
V71A |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,378,347 (GRCm39) |
E201G |
unknown |
Het |
| Hic2 |
A |
G |
16: 17,076,950 (GRCm39) |
Y593C |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,677 (GRCm39) |
V181E |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,320,013 (GRCm39) |
I176N |
possibly damaging |
Het |
| Kcna2 |
G |
T |
3: 107,012,338 (GRCm39) |
K306N |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,948,117 (GRCm39) |
Y244H |
probably damaging |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mapk14 |
T |
A |
17: 28,934,374 (GRCm39) |
D88E |
possibly damaging |
Het |
| Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
| Mrpl1 |
T |
A |
5: 96,386,733 (GRCm39) |
L241I |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,286 (GRCm39) |
N781K |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,296,054 (GRCm39) |
D186E |
probably benign |
Het |
| Or3a1b |
G |
A |
11: 74,013,035 (GRCm39) |
V307I |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,734,976 (GRCm39) |
I106V |
probably benign |
Het |
| Ppp4r2 |
A |
G |
6: 100,842,044 (GRCm39) |
I168M |
probably damaging |
Het |
| Prpf4b |
A |
T |
13: 35,079,974 (GRCm39) |
K779N |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,433,760 (GRCm39) |
|
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,123,117 (GRCm39) |
F300S |
probably damaging |
Het |
| Sart3 |
T |
A |
5: 113,884,029 (GRCm39) |
K661M |
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,489,971 (GRCm39) |
I464V |
possibly damaging |
Het |
| Sema5a |
A |
G |
15: 32,575,064 (GRCm39) |
T391A |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,070 (GRCm39) |
T183A |
unknown |
Het |
| Sh3rf3 |
C |
T |
10: 58,940,242 (GRCm39) |
P688S |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,962 (GRCm39) |
T93A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 130,117,688 (GRCm39) |
S1402T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,937 (GRCm39) |
D82E |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,982 (GRCm39) |
F192S |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,031 (GRCm39) |
K678E |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,047 (GRCm39) |
T1826N |
|
Het |
| Vps41 |
A |
G |
13: 19,033,168 (GRCm39) |
D633G |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,057,259 (GRCm39) |
I448N |
probably 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 |
|
|
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 |
|
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'- GTCTCCCAGAGCAATGAGTG -3'
(R):5'- CACTGTATCTATGAGGCTGGAG -3'
Sequencing Primer
(F):5'- GCTCAGGGTTGCCTAGGAG -3'
(R):5'- GCATCTGAGGATAGCACTGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation