Incidental Mutation 'IGL01354:Malt1'
ID75481
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: 0.395) question?
Stock #IGL01354
Quality Score
Status
Chromosome18
Chromosomal Location65430962-65478823 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65475191 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 654 (Y654C)
Ref Sequence ENSEMBL: ENSMUSP00000048376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049248] [ENSMUST00000224056]
Predicted Effect probably damaging
Transcript: ENSMUST00000049248
AA Change: Y654C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: Y654C

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 probably damaging
Transcript: ENSMUST00000224056
AA Change: Y665C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,527,376 L41P probably damaging Het
Baz2b T C 2: 59,968,889 Q297R probably benign Het
Chl1 A T 6: 103,665,853 Q184L probably benign Het
Cyp2a5 A G 7: 26,837,103 D169G possibly damaging Het
Cyp2d34 G A 15: 82,617,622 T229M probably benign Het
Fgd5 C T 6: 92,061,843 R995* probably null Het
Gaa T C 11: 119,270,568 S146P probably benign Het
Gm11437 T A 11: 84,167,318 probably benign Het
Gm6614 T C 6: 141,990,408 N317S probably benign Het
Inpp5a T C 7: 139,538,234 F235L probably damaging Het
Lpp T A 16: 24,762,066 Y177* probably null Het
Olfr1302 A C 2: 111,780,901 N194H possibly damaging Het
Olfr1380 T C 11: 49,564,197 I92T probably damaging Het
Olfr878 G A 9: 37,919,544 V301I possibly damaging Het
Otog A G 7: 46,289,726 N2060S probably damaging Het
Phc1 G A 6: 122,334,083 T98I probably damaging Het
Pik3cb A G 9: 99,064,168 I535T possibly damaging Het
Plxna2 A G 1: 194,762,435 I712V probably benign Het
Psmc2 A G 5: 21,795,836 E103G possibly damaging Het
Ptprb A G 10: 116,343,891 I1405V probably benign Het
Ralgapa1 T C 12: 55,777,316 N260D possibly damaging Het
Reln G A 5: 21,919,175 Q2778* probably null Het
Sptlc1 T A 13: 53,333,951 Q452L probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Ubap2 T C 4: 41,207,005 E191G probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Zrsr1 T A 11: 22,974,190 H321Q probably damaging Het
Other mutations in Malt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Malt1 APN 18 65448963 nonsense probably null
IGL01514:Malt1 APN 18 65476400 missense possibly damaging 0.74
IGL01968:Malt1 APN 18 65449016 missense probably benign 0.08
bryce_canyon UTSW 18 65462915 critical splice donor site probably null
frappe UTSW 18 65473119 missense probably benign 0.01
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 On2013-10-07