Mutagenetix > Incidental Mutation

Incidental Mutation 'R7184:Malt1'

559205

Institutional Source

Beutler Lab

Gene Symbol

Malt1

Ensembl Gene

ENSMUSG00000032688

Gene Name

MALT1 paracaspase

Synonyms

D430033E09Rik, paracaspase, Pcasp1

MMRRC Submission

045236-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65564010-65611959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65580764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 219 (E219D)

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: E219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: E219D

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: E219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,094,219 (GRCm39)	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,184,965 (GRCm39)	N292K	probably benign	Het
Art2b	A	T	7: 101,229,658 (GRCm39)	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,555,219 (GRCm39)	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,349,109 (GRCm39)	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,428 (GRCm39)	V383E	probably benign	Het
Cd93	T	C	2: 148,284,459 (GRCm39)	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,304,814 (GRCm39)	E138D	probably benign	Het
Cdon	A	G	9: 35,375,191 (GRCm39)	I406V	probably benign	Het
Cfhr4	A	G	1: 139,660,822 (GRCm39)	V622A	possibly damaging	Het
Cyp3a41a	A	G	5: 145,642,663 (GRCm39)	V232A	probably benign	Het
Dbndd1	T	A	8: 124,235,860 (GRCm39)	D130V	probably damaging	Het
Dnah14	C	T	1: 181,532,094 (GRCm39)	R2294*	probably null	Het
Eddm3b	A	G	14: 51,354,387 (GRCm39)	Y125C	probably damaging	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Enah	A	T	1: 181,749,957 (GRCm39)	V294E	probably damaging	Het
Farp2	A	G	1: 93,531,137 (GRCm39)	E545G	probably damaging	Het
Farsb	T	C	1: 78,458,994 (GRCm39)	E22G	possibly damaging	Het
Fcsk	G	A	8: 111,613,788 (GRCm39)	P758S	probably damaging	Het
Fezf1	A	G	6: 23,247,835 (GRCm39)	V80A	probably benign	Het
Fpr2	T	C	17: 18,113,533 (GRCm39)	Y39H	unknown	Het
Fsd1l	C	A	4: 53,694,054 (GRCm39)	R344S	probably damaging	Het
Fxyd1	G	T	7: 30,751,401 (GRCm39)	R90S	unknown	Het
Galnt4	T	A	10: 98,944,466 (GRCm39)	Y64N	probably damaging	Het
Gatb	C	T	3: 85,544,258 (GRCm39)	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667 (GRCm39)	D73A	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr88	C	T	3: 116,045,643 (GRCm39)	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,722,067 (GRCm39)	N55S	probably benign	Het
Htr4	T	A	18: 62,570,498 (GRCm39)	C184*	probably null	Het
Ighv6-3	T	A	12: 114,355,475 (GRCm39)	R71S	probably benign	Het
Itpr2	G	C	6: 146,212,585 (GRCm39)	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,145,134 (GRCm39)	Q292R	probably benign	Het
Mab21l4	T	C	1: 93,082,237 (GRCm39)	N294S	probably benign	Het
Manba	T	C	3: 135,228,915 (GRCm39)	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,921,095 (GRCm39)	H41L	probably benign	Het
Mcm2	T	G	6: 88,868,776 (GRCm39)	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,215,484 (GRCm39)	I503T	possibly damaging	Het
Nqo1	T	C	8: 108,119,279 (GRCm39)	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,540,582 (GRCm39)	H845R	probably damaging	Het
Otogl	C	T	10: 107,599,061 (GRCm39)	C2254Y	probably damaging	Het
Pmm1	T	C	15: 81,840,415 (GRCm39)	N110S	probably damaging	Het
Poc1b	G	T	10: 98,970,199 (GRCm39)	C68F	probably benign	Het
Polr1b	A	G	2: 128,965,842 (GRCm39)	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,282,619 (GRCm39)	H119R	probably damaging	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rusc1	T	C	3: 88,999,194 (GRCm39)	E196G	possibly damaging	Het
Sf3a3	A	G	4: 124,608,772 (GRCm39)	K29E	probably benign	Het
Slc13a1	A	T	6: 24,092,311 (GRCm39)	I475K	probably damaging	Het
Slc26a5	G	T	5: 22,042,244 (GRCm39)	Y237*	probably null	Het
Slc7a14	C	T	3: 31,281,212 (GRCm39)	G366D	probably damaging	Het
Tbc1d5	A	G	17: 51,107,110 (GRCm39)	V482A	probably benign	Het
Tdrd5	G	T	1: 156,087,505 (GRCm39)	Q883K	probably benign	Het
Tet2	T	C	3: 133,179,391 (GRCm39)	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,028,131 (GRCm39)	D739G	unknown	Het
Vmn1r122	A	T	7: 20,867,820 (GRCm39)	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,614,915 (GRCm39)	K216*	probably null	Het
Vmn2r11	A	T	5: 109,201,281 (GRCm39)	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,679,543 (GRCm39)	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,345,664 (GRCm39)	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,250,056 (GRCm39)	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,442,065 (GRCm39)	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,826,003 (GRCm39)		probably null	Het

Other mutations in Malt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7192:Malt1	UTSW	18	65,570,898 (GRCm39)	missense	probably benign	0.07
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'- TGAAATCTTCACGCATACCCTC -3'
(R):5'- CACAGACATTAGCAGGTTCAAGC -3'

Sequencing Primer
(F):5'- AAATCTTCACGCATACCCTCTTATTG -3'
(R):5'- CATTAGCAGGTTCAAGCTGAGCATC -3'

Posted On

2019-06-26