Incidental Mutation 'R5985:Card10'
| ID |
481625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card10
|
| Ensembl Gene |
ENSMUSG00000033170 |
| Gene Name |
caspase recruitment domain family, member 10 |
| Synonyms |
Bimp1, CARMA3 |
| MMRRC Submission |
044165-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5985 (G1)
|
| Quality Score |
95.0077 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78659338-78687242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78675411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 448
(I448V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164826]
[ENSMUST00000170584]
|
| AlphaFold |
P58660 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000071115
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164826
AA Change: I448V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: I448V
| 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 benign
Transcript: ENSMUST00000170584
AA Change: I399V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: I399V
| 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 |
0.0601 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
96% (47/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,241,628 (GRCm39) |
I1164L |
probably benign |
Het |
| Actn1 |
C |
A |
12: 80,215,169 (GRCm39) |
G864V |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,604,146 (GRCm39) |
I34T |
probably benign |
Het |
| Ankrd10 |
T |
A |
8: 11,669,077 (GRCm39) |
K225* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,832 (GRCm39) |
A115V |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,304,667 (GRCm39) |
T1175A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,621,798 (GRCm39) |
D781G |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,187,119 (GRCm39) |
P759S |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,284,507 (GRCm39) |
F821L |
probably damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,064,952 (GRCm39) |
Y498C |
probably damaging |
Het |
| Defb37 |
A |
T |
8: 19,036,347 (GRCm39) |
C58S |
probably damaging |
Het |
| Faap20 |
T |
C |
4: 155,334,797 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,884,287 (GRCm39) |
V1204I |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,801,335 (GRCm39) |
V46A |
possibly damaging |
Het |
| Gan |
C |
T |
8: 117,922,557 (GRCm39) |
S430L |
possibly damaging |
Het |
| Gas2 |
T |
A |
7: 51,593,424 (GRCm39) |
I168K |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gm3898 |
G |
A |
9: 43,741,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
C |
9: 4,503,593 (GRCm39) |
Q341R |
probably damaging |
Het |
| Herpud1 |
G |
A |
8: 95,117,422 (GRCm39) |
R2Q |
probably damaging |
Het |
| Klf15 |
G |
A |
6: 90,443,703 (GRCm39) |
G93R |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,004,873 (GRCm39) |
F568L |
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,027,222 (GRCm39) |
Y229C |
probably damaging |
Het |
| Or12e14 |
A |
G |
2: 87,187,949 (GRCm39) |
I54V |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,779,665 (GRCm39) |
M304T |
probably benign |
Het |
| Phf11b |
A |
G |
14: 59,559,027 (GRCm39) |
L235P |
possibly damaging |
Het |
| Pira1 |
C |
A |
7: 3,740,316 (GRCm39) |
G302C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Prox1 |
A |
T |
1: 189,879,152 (GRCm39) |
F675L |
possibly damaging |
Het |
| Rnf144a |
C |
T |
12: 26,367,779 (GRCm39) |
E176K |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,870,181 (GRCm39) |
E965G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,122,973 (GRCm39) |
N874S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,233 (GRCm39) |
I180V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 125,975,902 (GRCm39) |
T84I |
probably benign |
Het |
| Syne2 |
C |
G |
12: 76,012,933 (GRCm39) |
P2709R |
probably damaging |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,948 (GRCm39) |
S377P |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,303,205 (GRCm39) |
Y258H |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,703,492 (GRCm39) |
E1881D |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,958,358 (GRCm39) |
L412P |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,904,386 (GRCm39) |
A337V |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,527 (GRCm39) |
K344E |
possibly damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,855 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,082 (GRCm39) |
N303K |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,587 (GRCm39) |
V585A |
probably benign |
Het |
| Zan |
A |
C |
5: 137,444,299 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,508,774 (GRCm39) |
N502K |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,382,752 (GRCm39) |
R526Q |
probably damaging |
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 |
|
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'- CAGTCCCAGAGCATTATACTTCTGG -3'
(R):5'- ACAGGTTGAGAACTGCTGCC -3'
Sequencing Primer
(F):5'- AGAGCATTATACTTCTGGCCCCAC -3'
(R):5'- GCACCGGTCTTGTTCTAT -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation