Incidental Mutation 'R7911:Card11'
ID |
610505 |
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 |
045960-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7911 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 140867755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000085786
|
SMART Domains |
Protein: ENSMUSP00000082941 Gene: ENSMUSG00000036526
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 |
0.9594 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (67/67) |
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 |
1700028K03Rik |
T |
C |
5: 107,693,667 (GRCm39) |
F95L |
probably benign |
Het |
Abca3 |
C |
G |
17: 24,617,478 (GRCm39) |
D1058E |
probably damaging |
Het |
Abca7 |
C |
A |
10: 79,840,867 (GRCm39) |
R919S |
probably benign |
Het |
Abcc2 |
T |
C |
19: 43,792,109 (GRCm39) |
S297P |
probably benign |
Het |
Abcc8 |
A |
G |
7: 45,803,860 (GRCm39) |
L438P |
probably damaging |
Het |
Acbd6 |
C |
A |
1: 155,562,750 (GRCm39) |
D250E |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 97,015,608 (GRCm39) |
N1626D |
possibly damaging |
Het |
Arrdc4 |
C |
T |
7: 68,394,924 (GRCm39) |
E112K |
probably benign |
Het |
B3galnt1 |
T |
A |
3: 69,482,574 (GRCm39) |
Y229F |
probably damaging |
Het |
Calcrl |
A |
C |
2: 84,181,575 (GRCm39) |
I191S |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,759,866 (GRCm39) |
|
probably null |
Het |
Cfap157 |
A |
G |
2: 32,668,219 (GRCm39) |
L407P |
probably damaging |
Het |
Cfap299 |
T |
A |
5: 98,885,567 (GRCm39) |
M158K |
possibly damaging |
Het |
Chst15 |
T |
C |
7: 131,872,251 (GRCm39) |
Q10R |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,999,372 (GRCm39) |
E262G |
probably benign |
Het |
Col26a1 |
A |
G |
5: 136,771,952 (GRCm39) |
L424P |
probably damaging |
Het |
Cryzl2 |
T |
C |
1: 157,299,925 (GRCm39) |
M308T |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,207,733 (GRCm39) |
I403T |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,238,563 (GRCm39) |
|
probably null |
Het |
Dmrt1 |
T |
A |
19: 25,580,692 (GRCm39) |
L368Q |
probably benign |
Het |
Dnah7b |
C |
A |
1: 46,178,838 (GRCm39) |
P837Q |
probably damaging |
Het |
Drg2 |
T |
A |
11: 60,355,001 (GRCm39) |
L283Q |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,445,122 (GRCm39) |
T1523I |
probably benign |
Het |
Farp1 |
T |
C |
14: 121,479,818 (GRCm39) |
S370P |
probably damaging |
Het |
Fbxl21 |
G |
A |
13: 56,684,976 (GRCm39) |
G360D |
probably damaging |
Het |
Fbxo39 |
T |
C |
11: 72,208,358 (GRCm39) |
S237P |
probably damaging |
Het |
Gart |
G |
T |
16: 91,435,672 (GRCm39) |
F180L |
probably benign |
Het |
Gng4 |
T |
C |
13: 13,999,857 (GRCm39) |
L42P |
possibly damaging |
Het |
Heatr9 |
T |
A |
11: 83,403,234 (GRCm39) |
D435V |
probably damaging |
Het |
Hsh2d |
A |
G |
8: 72,950,648 (GRCm39) |
E45G |
probably damaging |
Het |
Ighv1-74 |
A |
G |
12: 115,766,410 (GRCm39) |
I70T |
probably damaging |
Het |
Igkv1-133 |
T |
A |
6: 67,701,924 (GRCm39) |
F9L |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,167,051 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,067,774 (GRCm39) |
V1578A |
probably damaging |
Het |
Kcnj5 |
T |
C |
9: 32,233,517 (GRCm39) |
D266G |
probably damaging |
Het |
Klk1b9 |
A |
T |
7: 43,629,211 (GRCm39) |
K206N |
probably damaging |
Het |
Macir |
T |
A |
1: 97,573,615 (GRCm39) |
H150L |
probably damaging |
Het |
Madd |
C |
T |
2: 90,997,853 (GRCm39) |
G725D |
probably null |
Het |
Mki67 |
A |
T |
7: 135,306,333 (GRCm39) |
H576Q |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,651,681 (GRCm39) |
I36N |
|
Het |
Mycbp2 |
T |
G |
14: 103,437,621 (GRCm39) |
E2113D |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,457,677 (GRCm39) |
Y76C |
probably damaging |
Het |
Noct |
A |
G |
3: 51,155,069 (GRCm39) |
|
probably benign |
Het |
Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
Pcdhga6 |
C |
T |
18: 37,842,479 (GRCm39) |
S733L |
not run |
Het |
Pdlim7 |
T |
C |
13: 55,646,919 (GRCm39) |
E389G |
probably damaging |
Het |
Ppip5k1 |
A |
G |
2: 121,173,139 (GRCm39) |
Y480H |
possibly damaging |
Het |
Prc1 |
T |
A |
7: 79,954,120 (GRCm39) |
D93E |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,613,792 (GRCm39) |
M459T |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,688,924 (GRCm39) |
A906T |
probably damaging |
Het |
Ptpn21 |
T |
C |
12: 98,655,101 (GRCm39) |
E622G |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,501,788 (GRCm39) |
V1104A |
probably benign |
Het |
Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
Sh3pxd2b |
G |
A |
11: 32,321,533 (GRCm39) |
V31I |
probably damaging |
Het |
Skor1 |
T |
C |
9: 63,052,328 (GRCm39) |
E547G |
possibly damaging |
Het |
Slk |
C |
T |
19: 47,603,668 (GRCm39) |
T183I |
|
Het |
Sorcs1 |
C |
A |
19: 50,132,470 (GRCm39) |
D1163Y |
unknown |
Het |
Tex14 |
G |
A |
11: 87,424,428 (GRCm39) |
|
probably null |
Het |
Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
Tlcd4 |
A |
T |
3: 121,022,041 (GRCm39) |
I119K |
probably damaging |
Het |
Trav5-4 |
T |
C |
14: 53,941,908 (GRCm39) |
F94L |
probably benign |
Het |
Trpc6 |
G |
C |
9: 8,656,705 (GRCm39) |
G789R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,537,095 (GRCm39) |
C34944* |
probably null |
Het |
Usp53 |
T |
C |
3: 122,754,916 (GRCm39) |
M180V |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,193,107 (GRCm39) |
S8P |
probably damaging |
Het |
Wdr90 |
A |
T |
17: 26,069,723 (GRCm39) |
M1205K |
probably benign |
Het |
Zcwpw1 |
A |
T |
5: 137,795,032 (GRCm39) |
E76V |
probably null |
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 |
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'- TCACTGCGGGGATAAAATGG -3'
(R):5'- GCAGGTCTTTGATGTTGCAC -3'
Sequencing Primer
(F):5'- TAAAATGGGACCAGAGAAGCC -3'
(R):5'- GATGTTGCACCTGACATTCAG -3'
|
Posted On |
2019-12-20 |