Mutagenetix > Incidental Mutation

Incidental Mutation 'R7756:Malt1'

597576

Institutional Source

Beutler Lab

Gene Symbol

Malt1

Ensembl Gene

ENSMUSG00000032688

Gene Name

MALT1 paracaspase

Synonyms

paracaspase, D430033E09Rik

MMRRC Submission

Accession Numbers

Genbank: NM_172833

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R7756 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65430962-65478823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65473119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 622 (I622V)

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: I622V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: I622V

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 benign
Transcript: ENSMUST00000224056
AA Change: I633V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	A	G	1: 136,216,433	S422P	probably benign	Het
Ankrd60	T	C	2: 173,568,769	*319W	probably null	Het
Brd4	A	G	17: 32,198,982	I1157T	unknown	Het
Btbd2	T	C	10: 80,648,606	I159V	probably benign	Het
Card6	G	A	15: 5,099,896	Q673*	probably null	Het
Cdyl	T	A	13: 35,872,641	Y585N	probably damaging	Het
Cep192	A	C	18: 67,856,313	I1844L	possibly damaging	Het
Cfap99	G	T	5: 34,302,608	C105F	probably damaging	Het
Clcn6	T	C	4: 148,029,439	D54G	probably damaging	Het
Dennd5a	T	C	7: 109,921,507	N381S	possibly damaging	Het
Disp1	A	C	1: 183,089,734	V374G	probably damaging	Het
Dock4	C	T	12: 40,710,879	T522I	probably benign	Het
Fcer1a	A	G	1: 173,221,575	L223P	probably damaging	Het
Fstl4	C	A	11: 53,168,296	D527E	possibly damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm5460	A	T	14: 34,035,157	T64S	probably benign	Het
Gys1	T	C	7: 45,448,302	V491A	probably benign	Het
Hoxa9	A	T	6: 52,225,562	N181K	probably benign	Het
Ift81	A	T	5: 122,551,025	L676H	probably damaging	Het
Impad1	A	T	4: 4,769,385	H243Q	probably damaging	Het
Itga1	T	A	13: 114,992,460	D554V	probably benign	Het
Lin7c	T	A	2: 109,896,372	I122K	probably damaging	Het
Megf8	T	C	7: 25,342,425		probably null	Het
Morc2b	A	G	17: 33,137,007	V597A	probably damaging	Het
Nr1h5	T	C	3: 102,949,609	I196V	probably benign	Het
Olfr229	T	G	9: 39,910,325	I174S	possibly damaging	Het
Olfr434	T	A	6: 43,217,016	Y34*	probably null	Het
Olfr963	T	C	9: 39,669,075	M6T	probably benign	Het
Pdlim1	G	A	19: 40,243,542	P131S	probably benign	Het
Plekhh1	T	C	12: 79,070,804	I858T	probably benign	Het
Pls1	T	C	9: 95,776,844	N197S	probably benign	Het
Pnmal1	A	T	7: 16,961,299	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344	D354E	probably benign	Het
Rbp3	G	A	14: 33,954,775	V227M	probably benign	Het
Shcbp1	T	C	8: 4,744,545	K416R	probably damaging	Het
Slc20a2	T	G	8: 22,535,492	I70S	probably damaging	Het
Slc7a11	A	G	3: 50,372,360	I484T	probably benign	Het
Snrpa	A	G	7: 27,192,946	V63A	possibly damaging	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,290,728		probably benign	Het
Strc	T	C	2: 121,370,946	E1259G	probably benign	Het
Suds3	T	G	5: 117,115,737	D26A	unknown	Het
Tnrc18	A	G	5: 142,787,152	S641P		Het
Tspan32	A	G	7: 143,017,222	N189D	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Usp40	G	T	1: 87,967,200	T866K	probably damaging	Het
Vmn1r220	G	A	13: 23,183,707	T273I	probably benign	Het
Yes1	C	T	5: 32,684,680	T516I	probably damaging	Het
Zbtb4	A	G	11: 69,778,542	E697G	probably benign	Het
Zfp994	T	C	17: 22,200,847	T374A	possibly damaging	Het

Other mutations in Malt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Malt1	APN	18	65448963	nonsense	probably null
IGL01354:Malt1	APN	18	65475191	missense	probably damaging	1.00
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
R7758:Malt1	UTSW	18	65473119	missense	probably benign	0.01
R7892:Malt1	UTSW	18	65464116	critical splice donor site	probably null
R8112:Malt1	UTSW	18	65449609	critical splice donor site	probably null
R8507:Malt1	UTSW	18	65470523	missense	probably damaging	1.00
R9009:Malt1	UTSW	18	65444840	missense	probably benign	0.15
R9760:Malt1	UTSW	18	65448212	missense	probably benign	0.03
Z1177:Malt1	UTSW	18	65431373	missense	probably damaging	1.00
Z1177:Malt1	UTSW	18	65448284	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAAAGAATCTAACCTGTTCTGC -3'
(R):5'- CAGACTTATCACTGACTTTTACGG -3'

Sequencing Primer
(F):5'- AAGAATCTAACCTGTTCTGCCCATG -3'
(R):5'- CCTAGAATTCACTTTGTAGACCAGGC -3'

Posted On

2019-11-26