Incidental Mutation 'R6545:Card10'
| ID |
521145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card10
|
| Ensembl Gene |
ENSMUSG00000033170 |
| Gene Name |
caspase recruitment domain family, member 10 |
| Synonyms |
Bimp1, CARMA3 |
| MMRRC Submission |
044671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6545 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78659338-78687242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78661010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 950
(G950V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018313]
[ENSMUST00000164826]
[ENSMUST00000170584]
|
| AlphaFold |
P58660 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018313
|
| SMART Domains |
Protein: ENSMUSP00000018313
Gene: ENSMUSG00000018169
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
49 |
300 |
6.9e-114 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128389
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164826
AA Change: G999V
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: G999V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
Pfam:CARD
|
77 |
163 |
1.1e-22 |
PFAM |
|
coiled coil region
|
188 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
706 |
N/A |
INTRINSIC |
|
PDB:3SHW|A
|
744 |
1055 |
1e-7 |
PDB |
|
Blast:SH3
|
747 |
812 |
8e-8 |
BLAST |
|
Blast:GuKc
|
883 |
1045 |
1e-19 |
BLAST |
|
low complexity region
|
1057 |
1068 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170584
AA Change: G950V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: G950V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:CARD
|
28 |
114 |
5.6e-23 |
PFAM |
|
coiled coil region
|
139 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
657 |
N/A |
INTRINSIC |
|
PDB:3SHW|A
|
695 |
1006 |
1e-7 |
PDB |
|
Blast:SH3
|
698 |
763 |
7e-8 |
BLAST |
|
Blast:GuKc
|
834 |
996 |
1e-19 |
BLAST |
|
low complexity region
|
1008 |
1019 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit partial penetrance of anencephaly and subsequent perinatal lethality of anencephalic embryos. [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 |
|---|
| Ago1 |
C |
T |
4: 126,348,145 (GRCm39) |
A58T |
possibly damaging |
Het |
| Ago4 |
T |
A |
4: 126,405,811 (GRCm39) |
Q366L |
probably benign |
Het |
| Ceacam1 |
A |
T |
7: 25,173,279 (GRCm39) |
V303D |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,672,319 (GRCm39) |
R2917H |
probably benign |
Het |
| Cit |
A |
G |
5: 115,984,493 (GRCm39) |
S22G |
probably null |
Het |
| Cog4 |
A |
G |
8: 111,607,577 (GRCm39) |
E666G |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,140,659 (GRCm39) |
D1103G |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,405,278 (GRCm39) |
|
probably null |
Het |
| Dctn3 |
T |
C |
4: 41,723,084 (GRCm39) |
E16G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,021,715 (GRCm39) |
S3536P |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,948 (GRCm39) |
I675N |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,477,995 (GRCm39) |
F531S |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,257,652 (GRCm39) |
R697G |
possibly damaging |
Het |
| Gm3173 |
T |
A |
14: 15,728,395 (GRCm39) |
M18K |
possibly damaging |
Het |
| Gm5800 |
A |
T |
14: 51,949,419 (GRCm39) |
S175R |
possibly damaging |
Het |
| Gria2 |
T |
C |
3: 80,648,451 (GRCm39) |
K95R |
probably damaging |
Het |
| Gstm6 |
A |
G |
3: 107,849,681 (GRCm39) |
I76T |
probably damaging |
Het |
| Harbi1 |
T |
G |
2: 91,542,640 (GRCm39) |
Y34D |
probably damaging |
Het |
| Hectd2 |
C |
A |
19: 36,564,778 (GRCm39) |
Q20K |
probably benign |
Het |
| Inpp5f |
C |
A |
7: 128,296,280 (GRCm39) |
A250D |
possibly damaging |
Het |
| Irf9 |
T |
C |
14: 55,842,684 (GRCm39) |
F59L |
probably damaging |
Het |
| Itgam |
T |
A |
7: 127,707,044 (GRCm39) |
M625K |
probably damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,054,432 (GRCm39) |
R504Q |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,052,793 (GRCm39) |
T1389A |
probably benign |
Het |
| Lin54 |
T |
A |
5: 100,632,996 (GRCm39) |
|
probably null |
Het |
| Mettl23 |
A |
G |
11: 116,740,042 (GRCm39) |
D171G |
possibly damaging |
Het |
| Mgll |
A |
G |
6: 88,802,685 (GRCm39) |
N296S |
probably benign |
Het |
| Mpv17 |
T |
A |
5: 31,302,041 (GRCm39) |
|
probably benign |
Het |
| Myof |
A |
T |
19: 37,930,745 (GRCm39) |
M1001K |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,389,300 (GRCm39) |
Q850L |
probably benign |
Het |
| Or10ab5 |
A |
T |
7: 108,245,662 (GRCm39) |
N40K |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,217,781 (GRCm39) |
I328V |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,493,685 (GRCm39) |
P311S |
possibly damaging |
Het |
| Prss34 |
A |
T |
17: 25,517,809 (GRCm39) |
R61S |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,840,237 (GRCm39) |
M280K |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,959,323 (GRCm39) |
H47R |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,894 (GRCm39) |
V219A |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,319,997 (GRCm39) |
I790T |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,296,614 (GRCm39) |
T491A |
possibly damaging |
Het |
| Svil |
C |
T |
18: 5,108,621 (GRCm39) |
H2007Y |
probably benign |
Het |
| Togaram1 |
T |
G |
12: 65,024,981 (GRCm39) |
C750G |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,806 (GRCm39) |
|
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,777 (GRCm39) |
D401E |
possibly damaging |
Het |
| Wdr97 |
C |
T |
15: 76,247,578 (GRCm39) |
R1585C |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,141,881 (GRCm39) |
D45E |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,709 (GRCm39) |
Y313N |
probably benign |
Het |
|
| Other mutations in Card10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02061:Card10
|
APN |
15 |
78,662,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Card10
|
APN |
15 |
78,686,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Card10
|
UTSW |
15 |
78,671,631 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0529:Card10
|
UTSW |
15 |
78,664,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0571:Card10
|
UTSW |
15 |
78,671,601 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1118:Card10
|
UTSW |
15 |
78,686,643 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1444:Card10
|
UTSW |
15 |
78,672,041 (GRCm39) |
splice site |
probably benign |
|
|
R1632:Card10
|
UTSW |
15 |
78,675,420 (GRCm39) |
nonsense |
probably null |
|
|
R1669:Card10
|
UTSW |
15 |
78,678,153 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1862:Card10
|
UTSW |
15 |
78,664,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Card10
|
UTSW |
15 |
78,664,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Card10
|
UTSW |
15 |
78,678,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2046:Card10
|
UTSW |
15 |
78,671,673 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2084:Card10
|
UTSW |
15 |
78,677,171 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2509:Card10
|
UTSW |
15 |
78,664,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2511:Card10
|
UTSW |
15 |
78,664,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4274:Card10
|
UTSW |
15 |
78,664,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Card10
|
UTSW |
15 |
78,665,724 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4970:Card10
|
UTSW |
15 |
78,686,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5098:Card10
|
UTSW |
15 |
78,660,917 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5112:Card10
|
UTSW |
15 |
78,686,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5243:Card10
|
UTSW |
15 |
78,664,872 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5256:Card10
|
UTSW |
15 |
78,662,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5985:Card10
|
UTSW |
15 |
78,675,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6089:Card10
|
UTSW |
15 |
78,686,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6357:Card10
|
UTSW |
15 |
78,683,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Card10
|
UTSW |
15 |
78,686,822 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6907:Card10
|
UTSW |
15 |
78,671,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6920:Card10
|
UTSW |
15 |
78,686,609 (GRCm39) |
nonsense |
probably null |
|
|
R7913:Card10
|
UTSW |
15 |
78,665,303 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8258:Card10
|
UTSW |
15 |
78,660,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Card10
|
UTSW |
15 |
78,660,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Card10
|
UTSW |
15 |
78,673,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9661:Card10
|
UTSW |
15 |
78,683,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Card10
|
UTSW |
15 |
78,679,528 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCCTGGGCATCAGATG -3'
(R):5'- GGCATGCCACAAATCATACATACTATG -3'
Sequencing Primer
(F):5'- ATCAGATGGGTCCTCAGGC -3'
(R):5'- CATGCATGTTGTGGTTATATGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation