Incidental Mutation 'R9215:Card11'
| ID |
699119 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140866154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 913
(M913K)
|
| 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: M913K
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: M913K
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo3 |
G |
A |
9: 107,931,638 (GRCm39) |
A354T |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,149,342 (GRCm39) |
S840P |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,049,214 (GRCm39) |
Q923R |
probably benign |
Het |
| Blk |
T |
C |
14: 63,610,999 (GRCm39) |
M448V |
probably damaging |
Het |
| Calhm2 |
C |
A |
19: 47,121,305 (GRCm39) |
R288L |
possibly damaging |
Het |
| Carf |
A |
C |
1: 60,189,804 (GRCm39) |
E676D |
possibly damaging |
Het |
| Ccn5 |
T |
A |
2: 163,670,966 (GRCm39) |
C158S |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,023 (GRCm39) |
D101G |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,123,826 (GRCm39) |
R532G |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,412,134 (GRCm39) |
T112A |
possibly damaging |
Het |
| Clint1 |
T |
C |
11: 45,774,578 (GRCm39) |
V28A |
probably damaging |
Het |
| Col13a1 |
C |
A |
10: 61,685,990 (GRCm39) |
|
probably null |
Het |
| Cryz |
G |
T |
3: 154,324,446 (GRCm39) |
V216F |
probably benign |
Het |
| Cyp1a1 |
G |
A |
9: 57,609,456 (GRCm39) |
V386I |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,035,950 (GRCm39) |
T320I |
possibly damaging |
Het |
| Dock7 |
G |
C |
4: 98,859,088 (GRCm39) |
N1431K |
unknown |
Het |
| Fam110c |
G |
T |
12: 31,123,863 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,209,747 (GRCm39) |
C1045S |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,167,243 (GRCm39) |
R655H |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,296 (GRCm39) |
L445P |
possibly damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,036 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
A |
G |
9: 75,982,083 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
T |
7: 16,007,055 (GRCm39) |
I54N |
probably damaging |
Het |
| Ipo9 |
C |
G |
1: 135,347,033 (GRCm39) |
M152I |
probably benign |
Het |
| Khdrbs3 |
C |
T |
15: 68,964,798 (GRCm39) |
T333M |
probably damaging |
Het |
| Lefty2 |
A |
G |
1: 180,725,145 (GRCm39) |
T292A |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,311,085 (GRCm39) |
E237G |
probably damaging |
Het |
| Lrig2 |
T |
A |
3: 104,398,324 (GRCm39) |
E268D |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,834,628 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,035 (GRCm39) |
V828A |
possibly damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,975,386 (GRCm39) |
Q812K |
possibly damaging |
Het |
| Nlrx1 |
T |
C |
9: 44,165,325 (GRCm39) |
K857R |
probably benign |
Het |
| Or2b28 |
C |
T |
13: 21,532,004 (GRCm39) |
A302V |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,016 (GRCm39) |
M72K |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,829 (GRCm39) |
Y89C |
probably benign |
Het |
| Or8b1c |
C |
T |
9: 38,384,694 (GRCm39) |
S217F |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,017,226 (GRCm39) |
F456L |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,595 (GRCm39) |
V180E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,203,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,579,797 (GRCm39) |
S422P |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,677 (GRCm39) |
V296E |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,501,733 (GRCm39) |
S640R |
possibly damaging |
Het |
| Prdx2 |
A |
G |
8: 85,697,932 (GRCm39) |
K92E |
possibly damaging |
Het |
| Prl7c1 |
C |
T |
13: 27,960,204 (GRCm39) |
E113K |
probably benign |
Het |
| Pxylp1 |
A |
T |
9: 96,707,111 (GRCm39) |
V357D |
possibly damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,471 (GRCm39) |
F777L |
probably damaging |
Het |
| Rbm4b |
G |
T |
19: 4,812,268 (GRCm39) |
V226F |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,698,870 (GRCm39) |
D139G |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,816,129 (GRCm39) |
D28N |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,042,285 (GRCm39) |
S224P |
possibly damaging |
Het |
| Slc39a6 |
C |
T |
18: 24,732,323 (GRCm39) |
A322T |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,262,647 (GRCm39) |
I81V |
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,880,815 (GRCm39) |
C310S |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,701 (GRCm39) |
D241G |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,994 (GRCm39) |
Q172* |
probably null |
Het |
| Spata31d1d |
G |
T |
13: 59,875,823 (GRCm39) |
Q571K |
probably benign |
Het |
| Speer1e |
A |
T |
5: 11,236,449 (GRCm39) |
I161F |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,085,223 (GRCm39) |
F381I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,962,595 (GRCm39) |
Y1194C |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,180 (GRCm39) |
I762T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,564 (GRCm39) |
T636A |
unknown |
Het |
| Trat1 |
T |
A |
16: 48,574,637 (GRCm39) |
R54* |
probably null |
Het |
| Tubb4a |
A |
T |
17: 57,387,769 (GRCm39) |
V419E |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,803,965 (GRCm39) |
W84R |
unknown |
Het |
| Uggt2 |
A |
G |
14: 119,279,006 (GRCm39) |
Y834H |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,670,065 (GRCm39) |
L257P |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,802,008 (GRCm39) |
V98I |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,706,666 (GRCm39) |
I136M |
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 |
|
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 |
|
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'- AGATGTGTCTCCCTGGAAGG -3'
(R):5'- CTGGCTCTTTACAGTGGAGG -3'
Sequencing Primer
(F):5'- CTGGAAGGGTGGGTGTGTACC -3'
(R):5'- TCCCTGCAGCGTAAAGTCAAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation