Incidental Mutation 'R7192:Malt1'
ID 559693
Institutional Source Beutler Lab
Gene Symbol Malt1
Ensembl Gene ENSMUSG00000032688
Gene Name MALT1 paracaspase
Synonyms D430033E09Rik, paracaspase, Pcasp1
MMRRC Submission 045333-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R7192 (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 A at 65570898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 78 (L78Q)
Ref Sequence ENSEMBL: ENSMUSP00000048376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049248] [ENSMUST00000224056]
AlphaFold Q2TBA3
Predicted Effect probably benign
Transcript: ENSMUST00000049248
AA Change: L78Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: L78Q

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: L78Q

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (72/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik G A 2: 30,686,188 (GRCm39) T329I probably damaging Het
Actl6a C A 3: 32,774,373 (GRCm39) P290H probably damaging Het
Akap9 T A 5: 4,055,723 (GRCm39) probably null Het
Anxa2r2 T A 13: 120,488,241 (GRCm39) K103* probably null Het
Bach1 C T 16: 87,526,551 (GRCm39) S671L possibly damaging Het
Cacna1c T C 6: 118,633,210 (GRCm39) I1099V Het
Cage1 G T 13: 38,203,220 (GRCm39) P615T probably benign Het
Caskin2 C A 11: 115,692,202 (GRCm39) R861L probably damaging Het
Cc2d2b A G 19: 40,762,881 (GRCm39) T386A unknown Het
Ccndbp1 A G 2: 120,843,424 (GRCm39) D272G probably damaging Het
Cep192 T A 18: 67,983,599 (GRCm39) V1553E probably damaging Het
Cfhr4 T A 1: 139,667,033 (GRCm39) H414L probably damaging Het
Chrm5 C T 2: 112,310,672 (GRCm39) G148D probably damaging Het
Cntnap4 T C 8: 113,608,432 (GRCm39) V1284A probably benign Het
Cpd T C 11: 76,705,667 (GRCm39) Y355C probably damaging Het
Csmd3 C T 15: 47,567,633 (GRCm39) V1266I Het
Cyfip2 T C 11: 46,145,493 (GRCm39) E609G probably benign Het
Dbr1 T C 9: 99,458,755 (GRCm39) probably null Het
Dmxl1 T C 18: 50,088,920 (GRCm39) Y2800H probably damaging Het
Dnajc6 G T 4: 101,455,000 (GRCm39) A64S probably benign Het
Dpp8 A T 9: 64,953,068 (GRCm39) N248I possibly damaging Het
Dsp A T 13: 38,379,569 (GRCm39) I2105F probably benign Het
Edem1 G A 6: 108,805,965 (GRCm39) V89M probably benign Het
Eml4 A G 17: 83,761,890 (GRCm39) Q528R probably benign Het
Epb42 A T 2: 120,854,578 (GRCm39) V669D unknown Het
Fat4 A T 3: 39,034,613 (GRCm39) Q2755L probably benign Het
Gata6 A G 18: 11,054,475 (GRCm39) K135E possibly damaging Het
Gmeb1 A T 4: 131,955,201 (GRCm39) F325I probably benign Het
H2-M10.3 C T 17: 36,677,451 (GRCm39) E276K probably damaging Het
H4c17 A T 13: 21,996,227 (GRCm39) K92* probably null Het
Ifi207 T C 1: 173,556,584 (GRCm39) N718S not run Het
Il6st A G 13: 112,631,741 (GRCm39) N427D probably benign Het
Kat7 T A 11: 95,166,656 (GRCm39) M509L probably benign Het
Klk1b4 T C 7: 43,859,045 (GRCm39) V21A probably benign Het
Mertk A G 2: 128,635,028 (GRCm39) probably null Het
Myo1b A G 1: 51,796,376 (GRCm39) L1016P probably damaging Het
Neu4 A G 1: 93,952,863 (GRCm39) I411V probably benign Het
Nutm2 A T 13: 50,627,105 (GRCm39) D420V probably damaging Het
Or10j3b T A 1: 173,043,575 (GRCm39) M119K probably damaging Het
Or2w2 A G 13: 21,758,539 (GRCm39) L29P probably damaging Het
Or4k1 T C 14: 50,377,577 (GRCm39) E173G possibly damaging Het
Or5ac24 T C 16: 59,165,542 (GRCm39) D174G probably benign Het
Pcdha12 C T 18: 37,153,316 (GRCm39) R12W probably benign Het
Pdgfra G T 5: 75,343,767 (GRCm39) D763Y probably damaging Het
Pkd2 T C 5: 104,634,523 (GRCm39) V518A probably benign Het
Prb1a G T 6: 132,184,335 (GRCm39) P433T unknown Het
Ptrh2 A G 11: 86,580,835 (GRCm39) T151A probably damaging Het
Qars1 T A 9: 108,388,760 (GRCm39) N273K probably damaging Het
Robo2 T C 16: 73,717,638 (GRCm39) Y1154C probably benign Het
Rps6kc1 T A 1: 190,532,556 (GRCm39) D482V probably damaging Het
Sec16b T C 1: 157,357,013 (GRCm39) S74P probably benign Het
Serpinb2 A T 1: 107,452,306 (GRCm39) I295F probably damaging Het
Sh3pxd2b T A 11: 32,364,318 (GRCm39) D301E probably damaging Het
Sipa1l2 G A 8: 126,149,348 (GRCm39) T1637I probably benign Het
Slc27a4 A T 2: 29,695,941 (GRCm39) N159Y probably damaging Het
Stat1 A C 1: 52,174,780 (GRCm39) K161Q possibly damaging Het
Stc2 T C 11: 31,319,872 (GRCm39) probably benign Het
Strip1 A G 3: 107,522,651 (GRCm39) W681R possibly damaging Het
Sv2a G A 3: 96,101,062 (GRCm39) G687S probably damaging Het
Thnsl2 C T 6: 71,116,739 (GRCm39) V138I probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tnfrsf1a T C 6: 125,338,559 (GRCm39) S235P unknown Het
Tpbg T A 9: 85,726,085 (GRCm39) L18* probably null Het
Trabd2b A T 4: 114,467,217 (GRCm39) Q482L possibly damaging Het
Trim35 T A 14: 66,534,895 (GRCm39) F126Y probably damaging Het
Ttn A T 2: 76,658,288 (GRCm39) V12364D unknown Het
Ubac2 A G 14: 122,211,128 (GRCm39) Y166C probably damaging Het
Unc13b T A 4: 43,258,519 (GRCm39) V1320D probably damaging Het
Usp34 T A 11: 23,410,571 (GRCm39) Y2693N Het
Utp20 A T 10: 88,608,321 (GRCm39) M1572K probably benign Het
Vmn1r7 C T 6: 57,001,452 (GRCm39) M269I probably benign Het
Vmn2r3 C T 3: 64,167,364 (GRCm39) G589D probably benign Het
Vrtn A T 12: 84,695,636 (GRCm39) M129L probably damaging Het
Zfp273 A T 13: 67,973,183 (GRCm39) T104S possibly damaging Het
Zfp384 T A 6: 125,010,275 (GRCm39) N390K probably damaging Het
Znfx1 A G 2: 166,884,110 (GRCm39) M933T probably benign Het
Other mutations in Malt1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGAGTAAAGCAAATTTCTGGCC -3'
(R):5'- TTCTGAAGAAGAGTCCTGAATGGG -3'

Sequencing Primer
(F):5'- AAAGCAAATTTCTGGCCTTTTTCTC -3'
(R):5'- TCGCTCAGTTCTGTGACT -3'
Posted On 2019-06-26