Incidental Mutation 'R7307:Malt1'
ID 567355
Institutional Source Beutler Lab
Gene Symbol Malt1
Ensembl Gene ENSMUSG00000032688
Gene Name MALT1 paracaspase
Synonyms D430033E09Rik, paracaspase, Pcasp1
MMRRC Submission 045366-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R7307 (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 65584640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 325 (H325Q)
Ref Sequence ENSEMBL: ENSMUSP00000048376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049248] [ENSMUST00000224056]
AlphaFold Q2TBA3
Predicted Effect possibly damaging
Transcript: ENSMUST00000049248
AA Change: H325Q

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: H325Q

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 benign
Transcript: ENSMUST00000224056
AA Change: H336Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,259 (GRCm39) P155L probably benign Het
Adamts12 G T 15: 11,217,899 (GRCm39) L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 (GRCm39) Y393N possibly damaging Het
Arhgap45 A G 10: 79,865,016 (GRCm39) Q993R probably benign Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
B4galnt3 T C 6: 120,192,392 (GRCm39) D448G probably benign Het
Capn1 C G 19: 6,043,938 (GRCm39) E564D possibly damaging Het
Ccdc85a A G 11: 28,349,384 (GRCm39) S474P probably benign Het
Cdk12 T A 11: 98,140,626 (GRCm39) L1289* probably null Het
Cramp1 A T 17: 25,193,719 (GRCm39) N920K possibly damaging Het
Cubn C T 2: 13,345,143 (GRCm39) S2091N probably damaging Het
Ddx1 A T 12: 13,273,960 (GRCm39) I581N probably damaging Het
Dnm2 A T 9: 21,396,983 (GRCm39) N487Y probably damaging Het
Enc1 A C 13: 97,381,601 (GRCm39) N37T probably damaging Het
Ephb3 T G 16: 21,040,976 (GRCm39) I932S probably benign Het
Frk T A 10: 34,467,934 (GRCm39) M316K probably damaging Het
Gdap2 C T 3: 100,109,349 (GRCm39) R25C unknown Het
Gpat2 T A 2: 127,276,810 (GRCm39) D671E probably damaging Het
Gpr179 C T 11: 97,229,672 (GRCm39) E828K probably benign Het
Greb1l T C 18: 10,538,142 (GRCm39) Y1052H probably damaging Het
Gtf2f1 C T 17: 57,314,833 (GRCm39) S69N probably damaging Het
Hid1 A C 11: 115,239,308 (GRCm39) I785S probably damaging Het
Hmcn2 T C 2: 31,233,093 (GRCm39) I214T probably damaging Het
Hsd3b5 G T 3: 98,527,085 (GRCm39) F120L probably damaging Het
Kif16b C T 2: 142,554,851 (GRCm39) R649Q probably benign Het
Kif17 A T 4: 137,989,954 (GRCm39) E47D probably benign Het
Kmt2b T C 7: 30,279,896 (GRCm39) H1368R probably damaging Het
Kmt2d A T 15: 98,747,299 (GRCm39) S3342T unknown Het
Krt82 A G 15: 101,451,342 (GRCm39) C356R probably damaging Het
Lrit2 A G 14: 36,794,156 (GRCm39) K407E probably benign Het
Mccc2 T G 13: 100,125,108 (GRCm39) D187A possibly damaging Het
Mgll T A 6: 88,791,103 (GRCm39) probably null Het
Mindy2 T G 9: 70,518,241 (GRCm39) E449A possibly damaging Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Nlrp4e A G 7: 23,020,953 (GRCm39) E480G probably benign Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Or13a26 G A 7: 140,285,060 (GRCm39) V299I probably benign Het
Or1j4 G A 2: 36,740,137 (GRCm39) M26I probably benign Het
Or4g7 A T 2: 111,309,105 (GRCm39) probably benign Het
Or52a20 G T 7: 103,366,173 (GRCm39) R124L probably damaging Het
Pcdhb6 A T 18: 37,468,531 (GRCm39) H484L probably benign Het
Phldb1 T C 9: 44,605,344 (GRCm39) T604A possibly damaging Het
Pitpnm3 G T 11: 71,961,790 (GRCm39) A275D probably damaging Het
Polr2a A T 11: 69,638,118 (GRCm39) probably null Het
Polr3a A G 14: 24,510,055 (GRCm39) C960R probably benign Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Pramel11 A C 4: 143,623,345 (GRCm39) Y276* probably null Het
Pramel51 A C 12: 88,148,519 (GRCm39) C32W probably damaging Het
Psmc4 A G 7: 27,742,085 (GRCm39) V303A probably benign Het
Ptdss2 A G 7: 140,731,645 (GRCm39) N151S possibly damaging Het
Ptprk T A 10: 28,465,004 (GRCm39) Y1295* probably null Het
Rbm19 A G 5: 120,324,283 (GRCm39) K881E possibly damaging Het
Rcan2 T A 17: 44,331,993 (GRCm39) Y183* probably null Het
Rnd1 T C 15: 98,568,680 (GRCm39) E166G probably damaging Het
Rnf113a2 T A 12: 84,464,953 (GRCm39) C282S probably damaging Het
S100b G A 10: 76,092,926 (GRCm39) G20R probably benign Het
Sae1 G T 7: 16,102,469 (GRCm39) Y168* probably null Het
Samd9l C A 6: 3,372,600 (GRCm39) G1554* probably null Het
Samhd1 T C 2: 156,976,940 (GRCm39) S55G probably benign Het
Sgsm1 T C 5: 113,421,512 (GRCm39) D525G probably benign Het
Slc28a3 A T 13: 58,710,986 (GRCm39) M512K probably damaging Het
Slc9b2 T A 3: 135,024,151 (GRCm39) N67K probably benign Het
Smarca4 T A 9: 21,550,096 (GRCm39) I402N probably damaging Het
St7l T C 3: 104,796,669 (GRCm39) F261L probably benign Het
Syde2 T A 3: 145,721,553 (GRCm39) V1140D probably damaging Het
Syt6 T A 3: 103,494,788 (GRCm39) I251N probably damaging Het
Taok2 T C 7: 126,465,990 (GRCm39) E916G probably damaging Het
Tecta A G 9: 42,289,288 (GRCm39) S426P probably damaging Het
Thra T C 11: 98,655,134 (GRCm39) I338T probably damaging Het
Trub1 A T 19: 57,461,135 (GRCm39) Y137F probably damaging Het
Vps13b T C 15: 35,841,691 (GRCm39) F2574L probably benign Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Zc3h13 T A 14: 75,567,981 (GRCm39) D1091E probably damaging Het
Zdhhc6 A G 19: 55,301,682 (GRCm39) Y100H probably damaging 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
R7192:Malt1 UTSW 18 65,570,898 (GRCm39) missense probably benign 0.07
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'- GTCCTAAGTGTTCTTACCTGTTCAG -3'
(R):5'- TTGGCTATATTATTGGCCCAAGC -3'

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