Incidental Mutation 'R6865:Card10'
| ID |
535881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card10
|
| Ensembl Gene |
ENSMUSG00000033170 |
| Gene Name |
caspase recruitment domain family, member 10 |
| Synonyms |
Bimp1, CARMA3 |
| MMRRC Submission |
045027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6865 (G1)
|
| Quality Score |
96.0077 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78659338-78687242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 78686822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 47
(D47E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164826]
[ENSMUST00000170584]
|
| AlphaFold |
P58660 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164826
AA Change: D47E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: D47E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
| 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: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
| Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,075,354 (GRCm39) |
Y500* |
probably null |
Het |
| Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
| Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
| Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
| Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
| Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,318 (GRCm39) |
S22P |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
| Foxc1 |
A |
G |
13: 31,992,836 (GRCm39) |
D549G |
unknown |
Het |
| Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
| Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
| Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
| Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
| Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
| Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
| Rab44 |
A |
T |
17: 29,358,201 (GRCm39) |
I130F |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
| Slco1c1 |
A |
T |
6: 141,485,778 (GRCm39) |
Y136F |
probably damaging |
Het |
| Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
| Uckl1 |
T |
C |
2: 181,216,286 (GRCm39) |
N138S |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
| Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
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 |
|
R6545:Card10
|
UTSW |
15 |
78,661,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCAACCACATCCAGCTGTC -3'
(R):5'- GGAGCCAATGACCCCGAAG -3'
Sequencing Primer
(F):5'- TACGGTTAGCGCGGCAC -3'
(R):5'- CGTGAAAGGACGCCGAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation