Incidental Mutation 'IGL01354:Malt1'
| ID |
75481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Malt1
|
| Ensembl Gene |
ENSMUSG00000032688 |
| Gene Name |
MALT1 paracaspase |
| Synonyms |
D430033E09Rik, paracaspase, Pcasp1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.428)
|
| Stock # |
IGL01354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
65564010-65611959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65608262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 654
(Y654C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049248]
[ENSMUST00000224056]
|
| AlphaFold |
Q2TBA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049248
AA Change: Y654C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: Y654C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
|
PDB:2G7R|B
|
52 |
132 |
3e-29 |
PDB |
|
IGc2
|
145 |
203 |
8.19e-9 |
SMART |
|
IGc2
|
248 |
306 |
2.88e-4 |
SMART |
|
Pfam:Peptidase_C14
|
340 |
557 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224056
AA Change: Y665C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene disrupts normal B cell development and leads to impaired cytokine production and T cell and B cell proliferative responses after antigen receptor engagement due to failure of NF-kappaB activation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,363,240 (GRCm39) |
L41P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,233 (GRCm39) |
Q297R |
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,642,814 (GRCm39) |
Q184L |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,536,528 (GRCm39) |
D169G |
possibly damaging |
Het |
| Cyp2d34 |
G |
A |
15: 82,501,823 (GRCm39) |
T229M |
probably benign |
Het |
| Fgd5 |
C |
T |
6: 92,038,824 (GRCm39) |
R995* |
probably null |
Het |
| Gaa |
T |
C |
11: 119,161,394 (GRCm39) |
S146P |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,058,144 (GRCm39) |
|
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,118,150 (GRCm39) |
F235L |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,816 (GRCm39) |
Y177* |
probably null |
Het |
| Or2y10 |
T |
C |
11: 49,455,024 (GRCm39) |
I92T |
probably damaging |
Het |
| Or4k52 |
A |
C |
2: 111,611,246 (GRCm39) |
N194H |
possibly damaging |
Het |
| Or8b4 |
G |
A |
9: 37,830,840 (GRCm39) |
V301I |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,939,150 (GRCm39) |
N2060S |
probably damaging |
Het |
| Phc1 |
G |
A |
6: 122,311,042 (GRCm39) |
T98I |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,221 (GRCm39) |
I535T |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,444,743 (GRCm39) |
I712V |
probably benign |
Het |
| Psmc2 |
A |
G |
5: 22,000,834 (GRCm39) |
E103G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,796 (GRCm39) |
I1405V |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,824,101 (GRCm39) |
N260D |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,124,173 (GRCm39) |
Q2778* |
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,936,134 (GRCm39) |
N317S |
probably benign |
Het |
| Sptlc1 |
T |
A |
13: 53,487,987 (GRCm39) |
Q452L |
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,207,005 (GRCm39) |
E191G |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,641,202 (GRCm39) |
T262S |
probably benign |
Het |
| Zrsr2-ps1 |
T |
A |
11: 22,924,190 (GRCm39) |
H321Q |
probably damaging |
Het |
|
| Other mutations in Malt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Malt1
|
APN |
18 |
65,582,034 (GRCm39) |
nonsense |
probably null |
|
|
IGL01514:Malt1
|
APN |
18 |
65,609,471 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01968:Malt1
|
APN |
18 |
65,582,087 (GRCm39) |
missense |
probably benign |
0.08 |
|
bryce_canyon
|
UTSW |
18 |
65,595,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
frappe
|
UTSW |
18 |
65,606,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
mousebird
|
UTSW |
18 |
65,608,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
yellowstone
|
UTSW |
18 |
65,591,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8930:Malt1
|
UTSW |
18 |
65,595,886 (GRCm39) |
nonsense |
probably null |
|
|
R0319:Malt1
|
UTSW |
18 |
65,595,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0512:Malt1
|
UTSW |
18 |
65,591,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0748:Malt1
|
UTSW |
18 |
65,608,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2085:Malt1
|
UTSW |
18 |
65,606,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2962:Malt1
|
UTSW |
18 |
65,581,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4193:Malt1
|
UTSW |
18 |
65,580,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4359:Malt1
|
UTSW |
18 |
65,609,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Malt1
|
UTSW |
18 |
65,609,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Malt1
|
UTSW |
18 |
65,609,126 (GRCm39) |
missense |
probably benign |
|
|
R5925:Malt1
|
UTSW |
18 |
65,564,439 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6944:Malt1
|
UTSW |
18 |
65,570,991 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7108:Malt1
|
UTSW |
18 |
65,597,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7184:Malt1
|
UTSW |
18 |
65,580,764 (GRCm39) |
missense |
probably benign |
|
|
R7192:Malt1
|
UTSW |
18 |
65,570,898 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7307:Malt1
|
UTSW |
18 |
65,584,640 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7308:Malt1
|
UTSW |
18 |
65,582,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7490:Malt1
|
UTSW |
18 |
65,581,282 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7558:Malt1
|
UTSW |
18 |
65,595,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Malt1
|
UTSW |
18 |
65,606,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7758:Malt1
|
UTSW |
18 |
65,606,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7892:Malt1
|
UTSW |
18 |
65,597,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8112:Malt1
|
UTSW |
18 |
65,582,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8507:Malt1
|
UTSW |
18 |
65,603,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Malt1
|
UTSW |
18 |
65,577,911 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9760:Malt1
|
UTSW |
18 |
65,581,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Malt1
|
UTSW |
18 |
65,581,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Malt1
|
UTSW |
18 |
65,564,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation