Incidental Mutation 'PIT4531001:Card11'
| ID |
556451 |
| 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 # |
PIT4531001 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140858745-140986337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140892415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 217
(M217V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085786
AA Change: M217V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: M217V
| 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: 93.0%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
G |
9: 59,217,600 (GRCm39) |
D204E |
probably damaging |
Het |
| Aqr |
C |
A |
2: 113,961,215 (GRCm39) |
V682L |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,136,113 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Calb1 |
T |
C |
4: 15,900,925 (GRCm39) |
L171P |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,265,412 (GRCm39) |
|
probably null |
Het |
| Dpm1 |
T |
C |
2: 168,052,472 (GRCm39) |
T255A |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,752,803 (GRCm39) |
Y440H |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,737,170 (GRCm39) |
V40A |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,076,629 (GRCm39) |
N491Y |
possibly damaging |
Het |
| Frem1 |
T |
A |
4: 82,868,517 (GRCm39) |
H1488L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,990,144 (GRCm39) |
R43L |
unknown |
Het |
| Galnt3 |
G |
A |
2: 65,937,432 (GRCm39) |
R93C |
probably benign |
Het |
| Gm8225 |
A |
G |
17: 26,762,363 (GRCm39) |
T185A |
possibly damaging |
Het |
| H2-Q1 |
T |
C |
17: 35,539,892 (GRCm39) |
F54L |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,540,055 (GRCm39) |
Q108L |
probably damaging |
Het |
| Hoxc12 |
T |
G |
15: 102,846,855 (GRCm39) |
L249W |
probably damaging |
Het |
| Lrrc75b |
A |
T |
10: 75,393,099 (GRCm39) |
H83Q |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,391 (GRCm39) |
T1964S |
unknown |
Het |
| Nob1 |
T |
C |
8: 108,145,049 (GRCm39) |
D142G |
probably benign |
Het |
| Or2y1d |
T |
C |
11: 49,321,753 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,104 (GRCm39) |
H299Q |
probably benign |
Het |
| Or4p22 |
A |
T |
2: 88,317,601 (GRCm39) |
Y175F |
possibly damaging |
Het |
| Or5b24 |
G |
A |
19: 12,912,641 (GRCm39) |
D180N |
probably damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,571 (GRCm39) |
Y134H |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,329,327 (GRCm39) |
N527I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,805,096 (GRCm39) |
I543V |
|
Het |
| Ppp1r2 |
A |
T |
16: 31,077,279 (GRCm39) |
N150K |
probably damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,894,161 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,435,226 (GRCm39) |
E461* |
probably null |
Het |
| Ramac |
C |
T |
7: 81,417,327 (GRCm39) |
P9L |
possibly damaging |
Het |
| Rasa3 |
T |
A |
8: 13,655,887 (GRCm39) |
H116L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,827 (GRCm39) |
P520L |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,518,283 (GRCm39) |
S376A |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,458,173 (GRCm39) |
T3290A |
probably benign |
Het |
| Stk25 |
G |
A |
1: 93,552,346 (GRCm39) |
P345S |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,300,148 (GRCm39) |
E454G |
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,150,885 (GRCm39) |
K308E |
probably damaging |
Het |
| Thtpa |
C |
T |
14: 55,332,962 (GRCm39) |
P16S |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,018,535 (GRCm39) |
I247F |
possibly damaging |
Het |
| Trpc6 |
T |
G |
9: 8,610,149 (GRCm39) |
Y206D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,703,307 (GRCm39) |
T9357I |
unknown |
Het |
| Ugt2b1 |
C |
A |
5: 87,074,342 (GRCm39) |
A6S |
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,603 (GRCm39) |
V8A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,878,971 (GRCm39) |
I2990N |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,345,826 (GRCm39) |
R2689Q |
possibly damaging |
Het |
| Zfp831 |
T |
A |
2: 174,488,516 (GRCm39) |
Y1064N |
possibly 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 |
|
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 |
|
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'- AATACTGGTACATGGTGGCG -3'
(R):5'- GAAAGCCAAGGACCTTCAGC -3'
Sequencing Primer
(F):5'- AGAGCCTGTATCGTCCACC -3'
(R):5'- AAGGACCTTCAGCGCTGTGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation