Incidental Mutation 'R7831:Card11'
ID |
605611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Card11
|
Ensembl Gene |
ENSMUSG00000036526 |
Gene Name |
caspase recruitment domain family, member 11 |
Synonyms |
2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik |
MMRRC Submission |
045885-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7831 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 140859167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1126
(S1126R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085786
AA Change: S1126R
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526 AA Change: S1126R
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 |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (87/87) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,247,404 (GRCm39) |
V2384I |
possibly damaging |
Het |
Acsl1 |
A |
G |
8: 46,972,043 (GRCm39) |
D297G |
probably benign |
Het |
Ap2a1 |
C |
A |
7: 44,550,436 (GRCm39) |
R944L |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,756,933 (GRCm39) |
Y398C |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,011,202 (GRCm39) |
V968D |
probably damaging |
Het |
Becn1 |
T |
C |
11: 101,181,279 (GRCm39) |
T341A |
probably benign |
Het |
Ccdc51 |
T |
C |
9: 108,921,058 (GRCm39) |
L315S |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,140,653 (GRCm39) |
L1298P |
unknown |
Het |
Cep170b |
A |
T |
12: 112,711,234 (GRCm39) |
D1538V |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,826,782 (GRCm39) |
F348I |
possibly damaging |
Het |
Clip1 |
A |
T |
5: 123,751,342 (GRCm39) |
M813K |
|
Het |
Col19a1 |
G |
A |
1: 24,565,563 (GRCm39) |
T256I |
unknown |
Het |
Col6a3 |
A |
T |
1: 90,724,268 (GRCm39) |
C2027* |
probably null |
Het |
Crisp4 |
A |
T |
1: 18,199,013 (GRCm39) |
N140K |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,143,195 (GRCm39) |
A1266S |
probably benign |
Het |
Cyfip2 |
G |
A |
11: 46,087,273 (GRCm39) |
R1206C |
probably damaging |
Het |
Cyp24a1 |
T |
A |
2: 170,327,860 (GRCm39) |
M461L |
probably damaging |
Het |
Cyp2a5 |
C |
T |
7: 26,534,940 (GRCm39) |
T51I |
possibly damaging |
Het |
Cyp2b19 |
C |
T |
7: 26,466,565 (GRCm39) |
H398Y |
possibly damaging |
Het |
Cyp4a29 |
G |
A |
4: 115,107,367 (GRCm39) |
V234I |
probably benign |
Het |
Dicer1 |
T |
G |
12: 104,675,059 (GRCm39) |
K734N |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,614,695 (GRCm39) |
|
probably null |
Het |
Entpd3 |
G |
A |
9: 120,373,025 (GRCm39) |
G14D |
probably damaging |
Het |
Entrep3 |
G |
A |
3: 89,091,520 (GRCm39) |
|
probably null |
Het |
Ermp1 |
T |
C |
19: 29,595,367 (GRCm39) |
T634A |
probably benign |
Het |
Evc |
C |
T |
5: 37,476,427 (GRCm39) |
G374D |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,806,404 (GRCm39) |
T2124K |
probably damaging |
Het |
Fgf8 |
G |
A |
19: 45,730,876 (GRCm39) |
P50S |
probably benign |
Het |
Fmnl1 |
C |
T |
11: 103,088,999 (GRCm39) |
R1074W |
unknown |
Het |
Galnt18 |
C |
T |
7: 111,155,665 (GRCm39) |
V223M |
possibly damaging |
Het |
Galnt2 |
A |
G |
8: 125,058,817 (GRCm39) |
N295S |
probably benign |
Het |
Grip1 |
T |
G |
10: 119,854,011 (GRCm39) |
V600G |
probably damaging |
Het |
Insm2 |
T |
A |
12: 55,647,323 (GRCm39) |
C356S |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,193,082 (GRCm39) |
I1672F |
probably benign |
Het |
Kdm1b |
T |
G |
13: 47,204,098 (GRCm39) |
N76K |
probably benign |
Het |
Khnyn |
T |
A |
14: 56,125,303 (GRCm39) |
|
probably null |
Het |
Kidins220 |
C |
T |
12: 25,111,230 (GRCm39) |
A1167V |
possibly damaging |
Het |
Krt40 |
T |
C |
11: 99,432,087 (GRCm39) |
D208G |
probably benign |
Het |
Lars1 |
T |
A |
18: 42,350,627 (GRCm39) |
D894V |
probably benign |
Het |
Lmx1a |
A |
T |
1: 167,668,521 (GRCm39) |
N266I |
probably benign |
Het |
Mrgprb5 |
T |
A |
7: 47,817,997 (GRCm39) |
K246M |
probably benign |
Het |
Mrpl2 |
G |
A |
17: 46,959,598 (GRCm39) |
G176R |
possibly damaging |
Het |
Muc21 |
T |
A |
17: 35,929,651 (GRCm39) |
T1512S |
unknown |
Het |
Nell1 |
T |
A |
7: 49,632,548 (GRCm39) |
F60L |
possibly damaging |
Het |
Nnt |
G |
A |
13: 119,506,630 (GRCm39) |
A453V |
possibly damaging |
Het |
Opa1 |
A |
G |
16: 29,467,755 (GRCm39) |
K940R |
probably benign |
Het |
Opn5 |
A |
C |
17: 42,891,510 (GRCm39) |
I309S |
probably null |
Het |
Or1af1 |
C |
T |
2: 37,109,723 (GRCm39) |
T74I |
probably damaging |
Het |
Or1r1 |
A |
C |
11: 73,875,257 (GRCm39) |
M59R |
probably damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,620 (GRCm39) |
I174F |
probably damaging |
Het |
P3h3 |
T |
G |
6: 124,832,118 (GRCm39) |
E256A |
possibly damaging |
Het |
Pald1 |
G |
T |
10: 61,191,593 (GRCm39) |
T65K |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,735,989 (GRCm39) |
Y279C |
probably damaging |
Het |
Pik3c2b |
G |
A |
1: 132,998,980 (GRCm39) |
S367N |
possibly damaging |
Het |
Pik3cb |
T |
C |
9: 98,970,666 (GRCm39) |
T342A |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,357,990 (GRCm39) |
E837D |
possibly damaging |
Het |
Ppp2r2b |
T |
A |
18: 42,834,597 (GRCm39) |
Y191F |
probably benign |
Het |
Ppp4r4 |
G |
A |
12: 103,557,080 (GRCm39) |
E439K |
possibly damaging |
Het |
Ptprk |
A |
G |
10: 28,444,404 (GRCm39) |
I946V |
possibly damaging |
Het |
Ror1 |
A |
G |
4: 100,298,295 (GRCm39) |
N556S |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,757,183 (GRCm39) |
A391T |
possibly damaging |
Het |
Selp |
G |
A |
1: 163,972,584 (GRCm39) |
|
probably null |
Het |
Setx |
T |
C |
2: 29,047,120 (GRCm39) |
L1866S |
probably damaging |
Het |
Setx |
T |
A |
2: 29,069,866 (GRCm39) |
V2557E |
possibly damaging |
Het |
Slc66a3 |
T |
A |
12: 17,047,632 (GRCm39) |
|
probably null |
Het |
Slit2 |
A |
G |
5: 48,402,025 (GRCm39) |
T805A |
probably benign |
Het |
Sorbs3 |
T |
G |
14: 70,440,481 (GRCm39) |
N89T |
possibly damaging |
Het |
Sorl1 |
C |
A |
9: 42,001,257 (GRCm39) |
V248L |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,066,288 (GRCm39) |
V612E |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,113,200 (GRCm39) |
Y583F |
probably damaging |
Het |
Tada1 |
G |
T |
1: 166,217,442 (GRCm39) |
R193I |
probably damaging |
Het |
Tnrc6b |
C |
G |
15: 80,764,580 (GRCm39) |
A694G |
possibly damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,711,425 (GRCm39) |
G8372D |
unknown |
Het |
Ube2g2 |
A |
G |
10: 77,470,576 (GRCm39) |
T68A |
|
Het |
Ubl7 |
T |
G |
9: 57,821,918 (GRCm39) |
V89G |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,492,038 (GRCm39) |
I3109N |
probably damaging |
Het |
Utp20 |
T |
A |
10: 88,598,632 (GRCm39) |
K115* |
probably null |
Het |
Vmn2r26 |
T |
A |
6: 124,016,758 (GRCm39) |
Y407* |
probably null |
Het |
Yod1 |
G |
T |
1: 130,646,986 (GRCm39) |
V288F |
probably damaging |
Het |
Zbed5 |
A |
C |
5: 129,930,798 (GRCm39) |
N249T |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,995,244 (GRCm39) |
T47A |
probably damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,984 (GRCm39) |
T460A |
not run |
Het |
Zfp712 |
A |
C |
13: 67,200,483 (GRCm39) |
|
probably null |
Het |
Zfyve16 |
A |
T |
13: 92,658,836 (GRCm39) |
H358Q |
probably benign |
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 |
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 |
R9385:Card11
|
UTSW |
5 |
140,871,276 (GRCm39) |
missense |
probably benign |
0.44 |
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'- GGGGTTGCTCATCTCTGTTCAC -3'
(R):5'- TCACACTGTGAGCATCGAGC -3'
Sequencing Primer
(F):5'- TCTGTTCACGCCAGCAGAG -3'
(R):5'- ATCGAGCCCTGCAGCCTC -3'
|
Posted On |
2019-12-20 |