Incidental Mutation 'R4274:Card10'
ID |
324731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Card10
|
Ensembl Gene |
ENSMUSG00000033170 |
Gene Name |
caspase recruitment domain family, member 10 |
Synonyms |
Bimp1, CARMA3 |
MMRRC Submission |
041077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4274 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78659338-78687242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78664714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 747
(R747W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164826]
[ENSMUST00000170584]
|
AlphaFold |
P58660 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164826
AA Change: R796W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129513 Gene: ENSMUSG00000033170 AA Change: R796W
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: R747W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131003 Gene: ENSMUSG00000033170 AA Change: R747W
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 |
|
Meta Mutation Damage Score |
0.2371 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
Dph7 |
A |
G |
2: 24,853,512 (GRCm39) |
N109S |
possibly damaging |
Het |
Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,522,896 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,364 (GRCm39) |
D70E |
probably damaging |
Het |
Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
Tns1 |
T |
A |
1: 73,967,257 (GRCm39) |
Y1115F |
probably damaging |
Het |
Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,792 (GRCm39) |
R430H |
probably damaging |
Het |
Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
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 |
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 |
R6545:Card10
|
UTSW |
15 |
78,661,010 (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'- AAGGTTGGGTCACACATGG -3'
(R):5'- AGCCTGTCATTCCTTCCATGAG -3'
Sequencing Primer
(F):5'- TGGTACAAGAAAAGCAAGCCTC -3'
(R):5'- TTCCATGAGGCCCTGGATG -3'
|
Posted On |
2015-06-24 |