Incidental Mutation 'R7558:Malt1'
| ID |
584912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Malt1
|
| Ensembl Gene |
ENSMUSG00000032688 |
| Gene Name |
MALT1 paracaspase |
| Synonyms |
D430033E09Rik, paracaspase, Pcasp1 |
| MMRRC Submission |
045625-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R7558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
65564010-65611959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65595905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 438
(C438R)
|
| 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: C438R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: C438R
| 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: C449R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
G |
T |
11: 23,466,285 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
A |
T |
10: 14,307,351 (GRCm39) |
M817K |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,058,297 (GRCm39) |
D53E |
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,558,755 (GRCm39) |
V283A |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,421 (GRCm39) |
Y1329H |
probably damaging |
Het |
| B3gnt9 |
T |
C |
8: 105,981,304 (GRCm39) |
Y28C |
probably benign |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Chrd |
T |
A |
16: 20,557,304 (GRCm39) |
V641E |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,419,460 (GRCm39) |
I198N |
probably damaging |
Het |
| Cplane1 |
C |
T |
15: 8,254,851 (GRCm39) |
R13C |
unknown |
Het |
| Dbndd2 |
T |
C |
2: 164,332,136 (GRCm39) |
S120P |
probably benign |
Het |
| Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,352,742 (GRCm39) |
M207V |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 100,952,264 (GRCm39) |
E6G |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,731 (GRCm39) |
Y257C |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,178,884 (GRCm39) |
S239P |
probably benign |
Het |
| Fstl5 |
C |
T |
3: 76,337,092 (GRCm39) |
T217I |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm45140 |
G |
A |
6: 87,798,511 (GRCm39) |
S34F |
|
Het |
| H2-Q6 |
A |
G |
17: 35,644,595 (GRCm39) |
E128G |
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,624,156 (GRCm39) |
F11L |
probably damaging |
Het |
| Igfbpl1 |
G |
T |
4: 45,813,497 (GRCm39) |
N239K |
probably damaging |
Het |
| Itpr2 |
G |
T |
6: 146,292,363 (GRCm39) |
D443E |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,450,928 (GRCm39) |
I736F |
probably damaging |
Het |
| Kctd11 |
A |
T |
11: 69,770,416 (GRCm39) |
H207Q |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,600,746 (GRCm39) |
D462E |
probably damaging |
Het |
| Kif5a |
G |
A |
10: 127,083,948 (GRCm39) |
T81I |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,423,137 (GRCm39) |
A86S |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,231,948 (GRCm39) |
D1174G |
|
Het |
| Lrrc8b |
G |
T |
5: 105,629,577 (GRCm39) |
W641L |
probably damaging |
Het |
| Marchf8 |
T |
C |
6: 116,380,526 (GRCm39) |
F126L |
possibly damaging |
Het |
| Nalcn |
C |
A |
14: 123,723,797 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,247,088 (GRCm39) |
T679S |
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,928 (GRCm39) |
Y65* |
probably null |
Het |
| Or5b3 |
T |
A |
19: 13,388,355 (GRCm39) |
C141S |
probably damaging |
Het |
| Otog |
C |
A |
7: 45,952,584 (GRCm39) |
P419Q |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,188,413 (GRCm39) |
S341A |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,782 (GRCm39) |
H2006Q |
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,511,766 (GRCm39) |
V319D |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,628 (GRCm39) |
S969G |
possibly damaging |
Het |
| Rasal2 |
G |
A |
1: 157,003,406 (GRCm39) |
R436C |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,601,735 (GRCm39) |
F742I |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,329,746 (GRCm39) |
F7L |
|
Het |
| Slc14a2 |
A |
G |
18: 78,235,334 (GRCm39) |
I143T |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,762,651 (GRCm39) |
M430L |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 109,976,184 (GRCm39) |
T157K |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,204,991 (GRCm39) |
I375T |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,302 (GRCm39) |
I609V |
possibly damaging |
Het |
| Tnk2 |
C |
A |
16: 32,498,903 (GRCm39) |
Q739K |
probably benign |
Het |
| Trio |
T |
A |
15: 27,831,480 (GRCm39) |
I1340F |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,756,029 (GRCm39) |
F91L |
probably damaging |
Het |
| Vax1 |
T |
C |
19: 59,158,416 (GRCm39) |
T16A |
unknown |
Het |
| Vps13d |
T |
G |
4: 144,881,150 (GRCm39) |
H1481P |
|
Het |
| Zbtb7a |
A |
G |
10: 80,984,269 (GRCm39) |
*570W |
probably null |
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 |
|
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 |
|
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'- AACGTGAGCATTTTCTGTCAG -3'
(R):5'- GTCACATGGACATGGACTCTAGAG -3'
Sequencing Primer
(F):5'- CCACTCCCAGGATTGTTATA -3'
(R):5'- GTTTCCAGAACCTCACAGTTCCTAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation