Incidental Mutation 'R9385:Card11'
| ID |
710254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card11
|
| Ensembl Gene |
ENSMUSG00000036526 |
| Gene Name |
caspase recruitment domain family, member 11 |
| Synonyms |
2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 140871276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 742
(R742S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085786
AA Change: R742S
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: R742S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD
|
23 |
109 |
1.3e-23 |
PFAM |
|
coiled coil region
|
176 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
|
PDZ
|
674 |
755 |
2.73e-1 |
SMART |
|
Blast:SH3
|
776 |
838 |
1e-10 |
BLAST |
|
low complexity region
|
839 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
934 |
N/A |
INTRINSIC |
|
SCOP:d1kjwa2
|
970 |
1149 |
1e-18 |
SMART |
|
Blast:GuKc
|
973 |
1139 |
1e-102 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,207,966 (GRCm39) |
I554T |
possibly damaging |
Het |
| Adamts7 |
C |
A |
9: 90,077,258 (GRCm39) |
C1308* |
probably null |
Het |
| Ank2 |
A |
G |
3: 126,753,366 (GRCm39) |
V305A |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,399 (GRCm39) |
N1627S |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,887 (GRCm39) |
Q1310L |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,322,551 (GRCm39) |
Y29* |
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,405,422 (GRCm39) |
D365G |
probably benign |
Het |
| Ccdc88b |
G |
A |
19: 6,833,533 (GRCm39) |
R211W |
probably benign |
Het |
| Cda |
T |
G |
4: 138,078,598 (GRCm39) |
I55L |
probably benign |
Het |
| Cdkl3 |
A |
C |
11: 51,926,779 (GRCm39) |
E577D |
probably benign |
Het |
| Cel |
T |
C |
2: 28,450,587 (GRCm39) |
D146G |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,426,878 (GRCm39) |
L919S |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,880 (GRCm39) |
S1403P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,455,912 (GRCm39) |
S202L |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,300,473 (GRCm39) |
Q1045* |
probably null |
Het |
| Csmd1 |
T |
C |
8: 16,034,756 (GRCm39) |
T2472A |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,601,069 (GRCm39) |
R22C |
probably benign |
Het |
| Ddit4 |
A |
G |
10: 59,787,178 (GRCm39) |
S53P |
probably damaging |
Het |
| Ddx52 |
G |
T |
11: 83,843,096 (GRCm39) |
C365F |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,361,972 (GRCm39) |
L3677I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,840,203 (GRCm39) |
T135A |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,207,185 (GRCm39) |
D216E |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,819,793 (GRCm39) |
D5175E |
possibly damaging |
Het |
| Fxr1 |
A |
G |
3: 34,074,120 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Gm3264 |
T |
C |
14: 16,058,217 (GRCm39) |
I8T |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,675,486 (GRCm39) |
Y110N |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,413 (GRCm39) |
N286S |
probably benign |
Het |
| H2ac1 |
A |
T |
13: 24,118,679 (GRCm39) |
I79F |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,421,423 (GRCm39) |
D441G |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,994,349 (GRCm39) |
D762G |
probably damaging |
Het |
| Hyou1 |
C |
A |
9: 44,292,812 (GRCm39) |
Q141K |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,993 (GRCm39) |
I267T |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,161,396 (GRCm39) |
K770E |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,316,144 (GRCm39) |
R14H |
probably damaging |
Het |
| Nfxl1 |
C |
A |
5: 72,694,750 (GRCm39) |
V478F |
probably benign |
Het |
| Nhlrc3 |
A |
G |
3: 53,361,015 (GRCm39) |
W247R |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,876 (GRCm39) |
G527D |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,988,584 (GRCm39) |
E342G |
probably benign |
Het |
| Ntn1 |
C |
A |
11: 68,276,013 (GRCm39) |
G312C |
probably damaging |
Het |
| Opcml |
T |
C |
9: 28,586,459 (GRCm39) |
V59A |
possibly damaging |
Het |
| Opn1sw |
T |
G |
6: 29,379,425 (GRCm39) |
Y193S |
probably damaging |
Het |
| Or10ad1c |
C |
T |
15: 98,085,486 (GRCm39) |
S64N |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,780 (GRCm39) |
*311K |
probably null |
Het |
| Pabpc4l |
A |
T |
3: 46,401,137 (GRCm39) |
V169E |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,982 (GRCm39) |
D1017G |
probably benign |
Het |
| Plagl2 |
C |
T |
2: 153,074,238 (GRCm39) |
C221Y |
probably damaging |
Het |
| Plppr4 |
G |
T |
3: 117,116,377 (GRCm39) |
N493K |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,431,724 (GRCm39) |
V571A |
possibly damaging |
Het |
| Pnma2 |
A |
G |
14: 67,153,371 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,929,467 (GRCm39) |
E1234D |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,528,561 (GRCm39) |
S74G |
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,645,563 (GRCm39) |
I330T |
probably damaging |
Het |
| Snrk |
A |
T |
9: 121,995,463 (GRCm39) |
D414V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,079,978 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
T |
C |
13: 59,863,403 (GRCm39) |
S184P |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 133,032,241 (GRCm39) |
N172K |
probably benign |
Het |
| Tbc1d4 |
G |
T |
14: 101,700,356 (GRCm39) |
Q858K |
probably damaging |
Het |
| Tex55 |
T |
G |
16: 38,648,407 (GRCm39) |
D234A |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,044,209 (GRCm39) |
C102R |
unknown |
Het |
| Ugt8a |
A |
T |
3: 125,665,263 (GRCm39) |
D411E |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,399,223 (GRCm39) |
D2404G |
|
Het |
| Vmn1r10 |
A |
C |
6: 57,090,833 (GRCm39) |
I142L |
probably benign |
Het |
| Wdr97 |
A |
G |
15: 76,240,367 (GRCm39) |
T352A |
|
Het |
| Xpo7 |
A |
T |
14: 70,925,733 (GRCm39) |
D435E |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,952,683 (GRCm39) |
S33P |
probably damaging |
Het |
|
| Other mutations in Card11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
unmodulated
|
APN |
5 |
140,897,997 (GRCm38) |
intron |
probably benign |
|
|
IGL00961:Card11
|
APN |
5 |
140,885,464 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01645:Card11
|
APN |
5 |
140,863,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01731:Card11
|
APN |
5 |
140,868,057 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01782:Card11
|
APN |
5 |
140,913,481 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
IGL01935:Card11
|
APN |
5 |
140,869,301 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01991:Card11
|
APN |
5 |
140,899,133 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02447:Card11
|
APN |
5 |
140,892,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02583:Card11
|
APN |
5 |
140,863,881 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03255:Card11
|
APN |
5 |
140,884,086 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Ace
|
UTSW |
5 |
140,888,632 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Caravaggio
|
UTSW |
5 |
140,899,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dealer
|
UTSW |
5 |
140,871,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dogs
|
UTSW |
5 |
140,867,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
Face
|
UTSW |
5 |
140,886,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hubei
|
UTSW |
5 |
140,892,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
king
|
UTSW |
5 |
140,876,835 (GRCm39) |
splice site |
probably benign |
|
|
may
|
UTSW |
5 |
140,862,250 (GRCm39) |
nonsense |
probably null |
|
|
Poker
|
UTSW |
5 |
140,863,837 (GRCm39) |
missense |
probably benign |
|
|
Sharp
|
UTSW |
5 |
140,862,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Tumnus
|
UTSW |
5 |
140,871,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
unmodulated2
|
UTSW |
5 |
140,869,537 (GRCm39) |
splice site |
probably null |
|
|
PIT4243001:Card11
|
UTSW |
5 |
140,894,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4486001:Card11
|
UTSW |
5 |
140,862,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Card11
|
UTSW |
5 |
140,892,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0046:Card11
|
UTSW |
5 |
140,894,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0285:Card11
|
UTSW |
5 |
140,872,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Card11
|
UTSW |
5 |
140,866,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1486:Card11
|
UTSW |
5 |
140,862,274 (GRCm39) |
missense |
probably benign |
|
|
R1710:Card11
|
UTSW |
5 |
140,888,660 (GRCm39) |
nonsense |
probably null |
|
|
R1733:Card11
|
UTSW |
5 |
140,892,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1817:Card11
|
UTSW |
5 |
140,871,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1818:Card11
|
UTSW |
5 |
140,871,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Card11
|
UTSW |
5 |
140,892,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2436:Card11
|
UTSW |
5 |
140,868,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2904:Card11
|
UTSW |
5 |
140,874,888 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3706:Card11
|
UTSW |
5 |
140,872,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Card11
|
UTSW |
5 |
140,872,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4778:Card11
|
UTSW |
5 |
140,869,537 (GRCm39) |
splice site |
probably null |
|
|
R4877:Card11
|
UTSW |
5 |
140,871,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Card11
|
UTSW |
5 |
140,871,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4910:Card11
|
UTSW |
5 |
140,860,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Card11
|
UTSW |
5 |
140,862,275 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5257:Card11
|
UTSW |
5 |
140,862,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5258:Card11
|
UTSW |
5 |
140,862,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5682:Card11
|
UTSW |
5 |
140,888,666 (GRCm39) |
nonsense |
probably null |
|
|
R5754:Card11
|
UTSW |
5 |
140,885,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5873:Card11
|
UTSW |
5 |
140,894,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Card11
|
UTSW |
5 |
140,884,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Card11
|
UTSW |
5 |
140,899,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Card11
|
UTSW |
5 |
140,863,837 (GRCm39) |
missense |
probably benign |
|
|
R7008:Card11
|
UTSW |
5 |
140,859,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Card11
|
UTSW |
5 |
140,886,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Card11
|
UTSW |
5 |
140,883,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7526:Card11
|
UTSW |
5 |
140,899,184 (GRCm39) |
splice site |
probably null |
|
|
R7683:Card11
|
UTSW |
5 |
140,881,781 (GRCm39) |
missense |
probably benign |
|
|
R7730:Card11
|
UTSW |
5 |
140,871,751 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7813:Card11
|
UTSW |
5 |
140,885,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Card11
|
UTSW |
5 |
140,859,167 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7911:Card11
|
UTSW |
5 |
140,867,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8154:Card11
|
UTSW |
5 |
140,886,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Card11
|
UTSW |
5 |
140,888,632 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8272:Card11
|
UTSW |
5 |
140,875,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Card11
|
UTSW |
5 |
140,899,147 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8715:Card11
|
UTSW |
5 |
140,871,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Card11
|
UTSW |
5 |
140,894,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Card11
|
UTSW |
5 |
140,869,375 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9215:Card11
|
UTSW |
5 |
140,866,154 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9269:Card11
|
UTSW |
5 |
140,892,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9421:Card11
|
UTSW |
5 |
140,869,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9424:Card11
|
UTSW |
5 |
140,894,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Card11
|
UTSW |
5 |
140,894,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Card11
|
UTSW |
5 |
140,862,250 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Card11
|
UTSW |
5 |
140,871,347 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1177:Card11
|
UTSW |
5 |
140,883,996 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCCGGAGCATCTTCAAAC -3'
(R):5'- TAGAGACACATGCAGCCCAG -3'
Sequencing Primer
(F):5'- GAGCATCTTCAAACCCACCTGTTATC -3'
(R):5'- CAAGATGCCCTTGTGTCTGATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation