Incidental Mutation 'R0748:Malt1'
| ID |
70239 |
| 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: 0.428)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
65564010-65611959 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 65608331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049248]
[ENSMUST00000224056]
|
| AlphaFold |
Q2TBA3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049248
|
| SMART Domains |
Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
| 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 null
Transcript: ENSMUST00000224056
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,946 (GRCm39) |
S482G |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,379 (GRCm39) |
Q202R |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,038,528 (GRCm39) |
I26T |
probably benign |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Nufip1 |
T |
C |
14: 76,348,508 (GRCm39) |
S46P |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,034,571 (GRCm39) |
Y629N |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,580 (GRCm39) |
N351S |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATCTTCCTGCAACTTCCCCAAATG -3'
(R):5'- GGCCTAACTTCTCAACAGCAGAGC -3'
Sequencing Primer
(F):5'- GGGATTACCTATTCAAGCCAGTACTC -3'
(R):5'- TTCTCAACAGCAGAGCAGACAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation