Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Malt1'

379758

Institutional Source

Beutler Lab

Gene Symbol

Malt1

Ensembl Gene

ENSMUSG00000032688

Gene Name

MALT1 paracaspase

Synonyms

D430033E09Rik, paracaspase, Pcasp1

MMRRC Submission

042515-MU

Accession Numbers

Essential gene?

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

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65564010-65611959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65609351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 774 (C774F)

Ref Sequence

ENSEMBL: ENSMUSP00000048376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049248] [ENSMUST00000224056]

AlphaFold

Q2TBA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049248
AA Change: C774F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: C774F

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 damaging
Transcript: ENSMUST00000224056
AA Change: C785F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Arnt	A	G	3: 95,397,965 (GRCm39)	R588G	probably damaging	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccn2	T	C	10: 24,473,225 (GRCm39)	C255R	probably damaging	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Ido1	T	C	8: 25,074,533 (GRCm39)	D279G	probably benign	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Mybpc3	A	G	2: 90,956,609 (GRCm39)	E637G	possibly damaging	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sec24b	A	T	3: 129,796,028 (GRCm39)	S367T	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Uhrf1	T	C	17: 56,622,478 (GRCm39)	V431A	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	probably benign	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
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
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'- AAGCTAGACATGCACCGAGG -3'
(R):5'- AAGAGTTGTTGCTAGTTTTCTCTCC -3'

Sequencing Primer
(F):5'- CTAGACATGCACCGAGGACTGG -3'
(R):5'- GCTAGTTTTCTCTCCATACATACATG -3'

Posted On

2016-04-15