Incidental Mutation 'R4359:Malt1'
| ID |
324833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Malt1
|
| Ensembl Gene |
ENSMUSG00000032688 |
| Gene Name |
MALT1 paracaspase |
| Synonyms |
D430033E09Rik, paracaspase, Pcasp1 |
| MMRRC Submission |
041670-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R4359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65564010-65611959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65609300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 768
(V768A)
|
| 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: V757A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: V757A
| 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: V768A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,247,629 (GRCm39) |
V2459F |
probably benign |
Het |
| Acot1 |
T |
C |
12: 84,061,314 (GRCm39) |
Y207H |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,465,476 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,833,589 (GRCm39) |
I2613N |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,731,957 (GRCm39) |
I2027T |
possibly damaging |
Het |
| C2cd3 |
T |
G |
7: 100,090,296 (GRCm39) |
H466Q |
probably damaging |
Het |
| Cdc14b |
T |
A |
13: 64,396,225 (GRCm39) |
I15F |
probably benign |
Het |
| Cep135 |
G |
T |
5: 76,759,561 (GRCm39) |
K438N |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,466,476 (GRCm39) |
D1587G |
probably damaging |
Het |
| Cxcl16 |
C |
A |
11: 70,349,631 (GRCm39) |
V65L |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,382,699 (GRCm39) |
T783S |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,389 (GRCm39) |
N157S |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,624,547 (GRCm39) |
|
probably null |
Het |
| Fem1al |
A |
T |
11: 29,774,669 (GRCm39) |
S263T |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,808,731 (GRCm39) |
D160E |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Htr1b |
C |
A |
9: 81,514,404 (GRCm39) |
A68S |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,544 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,639 (GRCm39) |
V397A |
unknown |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,793,077 (GRCm39) |
C2532W |
probably damaging |
Het |
| Mindy3 |
A |
T |
2: 12,401,020 (GRCm39) |
W233R |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,249,736 (GRCm39) |
K1054R |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,061,712 (GRCm39) |
T2051S |
probably benign |
Het |
| Or10j5 |
C |
A |
1: 172,784,647 (GRCm39) |
A95E |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,742 (GRCm39) |
F248S |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pilra |
T |
C |
5: 137,829,576 (GRCm39) |
T160A |
probably benign |
Het |
| Plekha5 |
G |
C |
6: 140,537,414 (GRCm39) |
E540D |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,385,470 (GRCm39) |
W506* |
probably null |
Het |
| Timeless |
C |
A |
10: 128,083,211 (GRCm39) |
Q653K |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,883 (GRCm39) |
Q1129* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,714,334 (GRCm39) |
S275T |
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 |
|
|
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 |
|
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 |
|
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'- TCAGGACTAGAAGACACTGTGG -3'
(R):5'- GGTCAGTTTTCAGAAATCATAAGCCTG -3'
Sequencing Primer
(F):5'- CTAGAAGACACTGTGGAGGAGAAGC -3'
(R):5'- TCATAAGCCTGTCAGAAAAACTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation