Incidental Mutation 'R2962:Malt1'
ID |
255939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Malt1
|
Ensembl Gene |
ENSMUSG00000032688 |
Gene Name |
MALT1 paracaspase |
Synonyms |
D430033E09Rik, paracaspase, Pcasp1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R2962 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
65564010-65611959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65581406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 278
(H278R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049248]
[ENSMUST00000224056]
|
AlphaFold |
Q2TBA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049248
AA Change: H278R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000048376 Gene: ENSMUSG00000032688 AA Change: H278R
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 benign
Transcript: ENSMUST00000224056
AA Change: H278R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224229
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225659
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd24a |
A |
G |
10: 43,455,313 (GRCm39) |
T22A |
probably benign |
Het |
Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
Cog3 |
A |
G |
14: 75,977,974 (GRCm39) |
|
probably null |
Het |
Gm3371 |
A |
T |
14: 44,646,155 (GRCm39) |
N103K |
probably benign |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Hoxc10 |
A |
G |
15: 102,875,735 (GRCm39) |
Y148C |
probably damaging |
Het |
Jade1 |
C |
G |
3: 41,567,762 (GRCm39) |
T610S |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lhfpl7 |
T |
C |
5: 113,385,922 (GRCm39) |
V123A |
possibly damaging |
Het |
Mlxip |
C |
A |
5: 123,578,887 (GRCm39) |
R178S |
probably damaging |
Het |
Or13a25 |
A |
T |
7: 140,247,862 (GRCm39) |
M214L |
probably benign |
Het |
Pdxk |
A |
G |
10: 78,279,667 (GRCm39) |
L236P |
probably damaging |
Het |
Plekhg3 |
G |
A |
12: 76,619,433 (GRCm39) |
|
probably null |
Het |
Rufy2 |
G |
T |
10: 62,836,039 (GRCm39) |
V323F |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,379,456 (GRCm39) |
T288A |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,650,323 (GRCm39) |
C1628* |
probably null |
Het |
Tgtp2 |
A |
G |
11: 48,950,363 (GRCm39) |
S70P |
probably damaging |
Het |
Trank1 |
C |
T |
9: 111,181,148 (GRCm39) |
T390I |
probably damaging |
Het |
Trim31 |
T |
C |
17: 37,210,796 (GRCm39) |
S143P |
probably damaging |
Het |
Ube3c |
C |
A |
5: 29,863,416 (GRCm39) |
A897D |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,061,378 (GRCm39) |
T1050S |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
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 |
|
IGL01354:Malt1
|
APN |
18 |
65,608,262 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTATACCCACCTGTTATCTCAG -3'
(R):5'- CCTGGGCTGAAATCCTGTTC -3'
Sequencing Primer
(F):5'- GAAACTGTTTTTGTTCACCACAG -3'
(R):5'- CCTGTTCTGTTGTAAATACAAGAAAC -3'
|
Posted On |
2014-12-29 |