Incidental Mutation 'IGL01514:Malt1'
ID89306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Malt1
Ensembl Gene ENSMUSG00000032688
Gene NameMALT1 paracaspase
Synonymsparacaspase, D430033E09Rik
Accession Numbers

Genbank: NM_172833

Is this an essential gene? Possibly non essential (E-score: 0.495) question?
Stock #IGL01514
Quality Score
Status
Chromosome18
Chromosomal Location65430962-65478823 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65476400 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 825 (D825G)
Ref Sequence ENSEMBL: ENSMUSP00000153585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049248] [ENSMUST00000224056]
Predicted Effect probably benign
Transcript: ENSMUST00000049248
AA Change: D814G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: D814G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000224056
AA Change: D825G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,839,242 probably benign Het
Actl7b T C 4: 56,740,677 Y227C probably damaging Het
Adam26a A T 8: 43,568,448 H668Q probably benign Het
Alcam A T 16: 52,274,290 probably benign Het
Aldh3a2 C T 11: 61,253,798 probably benign Het
Atp11b G T 3: 35,836,981 G801V probably damaging Het
C3 G A 17: 57,215,866 T1006I probably benign Het
Cacna2d4 T C 6: 119,282,173 probably benign Het
Cldn34b3 A T X: 76,267,074 I83F probably damaging Het
Clec2g G A 6: 128,948,773 M48I probably benign Het
Coch A G 12: 51,603,353 D375G probably damaging Het
Erbb2 C T 11: 98,432,919 T653I possibly damaging Het
Etv3 A G 3: 87,535,718 H203R possibly damaging Het
Fat4 A G 3: 38,949,534 R1801G possibly damaging Het
Gars T A 6: 55,065,520 S413T probably benign Het
Gnat1 G A 9: 107,676,301 R253C possibly damaging Het
Hook3 A T 8: 26,088,189 L91I possibly damaging Het
Lrp8 T C 4: 107,855,684 Y377H probably damaging Het
Lztr1 G A 16: 17,522,391 probably null Het
Nlrp9b T C 7: 20,045,934 probably null Het
Olfr1396 A T 11: 49,113,576 I50N probably damaging Het
Olfr54 C T 11: 51,027,589 R196* probably null Het
Orc1 A G 4: 108,602,052 R473G probably damaging Het
Pard6g G A 18: 80,117,446 R258H probably damaging Het
Pkdrej T C 15: 85,818,063 D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 T18A probably benign Het
Pycrl T C 15: 75,917,004 T240A probably damaging Het
Ralgapa1 C A 12: 55,719,657 G1284V probably damaging Het
Rcl1 T C 19: 29,143,298 probably benign Het
Sec24c C T 14: 20,682,771 T134I possibly damaging Het
Sis A G 3: 72,935,920 probably benign Het
Susd5 A C 9: 114,068,879 probably benign Het
Tlk1 T C 2: 70,752,266 N173S probably benign Het
Uroc1 T C 6: 90,363,100 probably benign Het
Other mutations in Malt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Malt1 APN 18 65448963 nonsense probably null
IGL01354:Malt1 APN 18 65475191 missense probably damaging 1.00
IGL01968:Malt1 APN 18 65449016 missense probably benign 0.08
bryce_canyon UTSW 18 65462915 critical splice donor site probably null
mousebird UTSW 18 65475260 critical splice donor site probably null
yellowstone UTSW 18 65458200 missense probably damaging 1.00
H8930:Malt1 UTSW 18 65462815 nonsense probably null
R0319:Malt1 UTSW 18 65462915 critical splice donor site probably null
R0512:Malt1 UTSW 18 65458200 missense probably damaging 1.00
R0748:Malt1 UTSW 18 65475260 critical splice donor site probably null
R2085:Malt1 UTSW 18 65473147 missense probably damaging 1.00
R2962:Malt1 UTSW 18 65448335 missense probably benign 0.01
R4193:Malt1 UTSW 18 65447675 missense probably benign 0.00
R4359:Malt1 UTSW 18 65476229 missense probably benign 0.00
R4913:Malt1 UTSW 18 65476280 missense probably damaging 1.00
R5201:Malt1 UTSW 18 65476055 missense probably benign
R5925:Malt1 UTSW 18 65431368 missense possibly damaging 0.86
R6944:Malt1 UTSW 18 65437920 missense probably benign 0.08
R7108:Malt1 UTSW 18 65464051 missense probably damaging 1.00
R7184:Malt1 UTSW 18 65447693 missense probably benign
R7192:Malt1 UTSW 18 65437827 missense probably benign 0.07
R7307:Malt1 UTSW 18 65451569 missense possibly damaging 0.48
R7308:Malt1 UTSW 18 65449609 critical splice donor site probably null
R7490:Malt1 UTSW 18 65448211 missense probably benign 0.04
R7558:Malt1 UTSW 18 65462834 missense probably damaging 1.00
R7756:Malt1 UTSW 18 65473119 missense probably benign 0.01
R7758:Malt1 UTSW 18 65473119 missense probably benign 0.01
R7892:Malt1 UTSW 18 65464116 critical splice donor site probably null
R7975:Malt1 UTSW 18 65464116 critical splice donor site probably null
Z1177:Malt1 UTSW 18 65431373 missense probably damaging 1.00
Z1177:Malt1 UTSW 18 65448284 missense probably damaging 1.00
Posted On2013-12-03