Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Malt1'

551367

Institutional Source

Beutler Lab

Gene Symbol

Malt1

Ensembl Gene

ENSMUSG00000032688

Gene Name

MALT1 paracaspase

Synonyms

D430033E09Rik, paracaspase, Pcasp1

MMRRC Submission

045200-MU

Accession Numbers

Essential gene?

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

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65564010-65611959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65597122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 468 (D468Y)

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: D468Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: D468Y

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: D479Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,601,547 (GRCm39)	Y112N	probably benign	Het
Abcd2	A	T	15: 91,075,477 (GRCm39)	V112E	probably benign	Het
Acadm	A	T	3: 153,631,437 (GRCm39)	Y353*	probably null	Het
Adra2c	A	G	5: 35,437,342 (GRCm39)	D38G	probably benign	Het
Ankrd10	C	T	8: 11,662,624 (GRCm39)	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,715,528 (GRCm39)	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,555,153 (GRCm39)	T172A	probably damaging	Het
Bloc1s1	T	A	10: 128,758,592 (GRCm39)	K22M	possibly damaging	Het
Brpf3	A	G	17: 29,036,099 (GRCm39)	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,344,741 (GRCm39)		probably null	Het
Ccdc186	T	C	19: 56,787,192 (GRCm39)	D592G	probably damaging	Het
Cfap161	A	T	7: 83,442,518 (GRCm39)	D98E	possibly damaging	Het
Cfi	G	A	3: 129,668,665 (GRCm39)	V564M	probably damaging	Het
Cilp2	T	A	8: 70,333,779 (GRCm39)	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,322,929 (GRCm39)	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,033,143 (GRCm39)	M172L	probably benign	Het
Cyth1	T	C	11: 118,073,739 (GRCm39)	D198G	probably damaging	Het
Daam2	T	C	17: 49,767,702 (GRCm39)	D963G	probably damaging	Het
Ddi2	A	T	4: 141,433,248 (GRCm39)	D209E	probably benign	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnai7	G	A	6: 145,131,591 (GRCm39)	Q351*	probably null	Het
Dpagt1	G	T	9: 44,238,318 (GRCm39)		probably benign	Het
Drc3	T	A	11: 60,261,380 (GRCm39)	F177Y	probably benign	Het
Dsg2	T	C	18: 20,734,920 (GRCm39)	V966A	probably damaging	Het
E4f1	A	G	17: 24,663,552 (GRCm39)	V633A	probably damaging	Het
Eif2ak2	T	A	17: 79,165,965 (GRCm39)	R411*	probably null	Het
Frem2	T	C	3: 53,560,934 (GRCm39)	E1191G	probably damaging	Het
Fry	T	C	5: 150,319,251 (GRCm39)	V972A	probably damaging	Het
Fry	T	A	5: 150,414,555 (GRCm39)	C467S		Het
Fscn1	T	C	5: 142,946,270 (GRCm39)	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,961,759 (GRCm39)	I163F		Het
Gm21103	T	C	14: 17,484,768 (GRCm39)	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,734,083 (GRCm39)	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,755,108 (GRCm39)	Y262H	probably damaging	Het
Hc	G	T	2: 34,929,706 (GRCm39)	N245K	probably benign	Het
Hps6	T	A	19: 45,993,929 (GRCm39)	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 100,970,035 (GRCm39)	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,813,925 (GRCm39)	F799L	probably damaging	Het
Irf1	A	G	11: 53,665,238 (GRCm39)	D205G	probably damaging	Het
Kif12	A	T	4: 63,089,442 (GRCm39)	F103L	probably benign	Het
Krt12	C	T	11: 99,306,878 (GRCm39)	V475M	unknown	Het
Lca5	T	A	9: 83,305,222 (GRCm39)	T195S	probably benign	Het
Lrrc17	T	C	5: 21,780,337 (GRCm39)	V437A	possibly damaging	Het
Man2b2	C	T	5: 36,972,829 (GRCm39)	A562T	probably benign	Het
Mrc1	C	T	2: 14,308,957 (GRCm39)	Q794*	probably null	Het
Muc16	T	A	9: 18,566,529 (GRCm39)	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,360,039 (GRCm39)	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,037,274 (GRCm39)	I159N	probably damaging	Het
Nat1	T	C	8: 67,943,672 (GRCm39)	V19A	probably benign	Het
Ndst4	A	G	3: 125,355,120 (GRCm39)	T343A	probably damaging	Het
Nlrp9b	A	T	7: 19,779,855 (GRCm39)	L839F	probably damaging	Het
Nxnl1	A	G	8: 72,019,198 (GRCm39)	I9T	probably benign	Het
Odr4	T	C	1: 150,258,041 (GRCm39)	Y198C	probably benign	Het
Or1l4b	C	T	2: 37,036,272 (GRCm39)	T16I	probably benign	Het
Or2ag12	G	A	7: 106,277,255 (GRCm39)	A146V	probably benign	Het
Or2t49	T	A	11: 58,393,380 (GRCm39)	M7L	probably benign	Het
Or52b4i	A	T	7: 102,191,199 (GRCm39)	I19F	probably damaging	Het
Or7a35	C	A	10: 78,853,483 (GRCm39)	S109*	probably null	Het
Pou5f2	T	C	13: 78,173,384 (GRCm39)	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,371,250 (GRCm39)	Q321*	probably null	Het
Prr18	G	T	17: 8,560,363 (GRCm39)	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,334,380 (GRCm39)	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,336,582 (GRCm39)	I1407F	probably damaging	Het
Sacs	T	A	14: 61,448,458 (GRCm39)	Y3501*	probably null	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Scn8a	A	T	15: 100,937,659 (GRCm39)	H1676L	probably benign	Het
Shmt1	T	C	11: 60,689,470 (GRCm39)	D178G	probably damaging	Het
Slmap	T	C	14: 26,143,676 (GRCm39)	K737R	probably benign	Het
Ssh2	G	A	11: 77,345,620 (GRCm39)	V1202I	probably benign	Het
Stard7	A	G	2: 127,137,414 (GRCm39)	D288G	possibly damaging	Het
Tek	A	T	4: 94,741,724 (GRCm39)	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,614,356 (GRCm39)	L276P	probably damaging	Het
Tns3	T	C	11: 8,387,251 (GRCm39)	N1312S	probably benign	Het
Tubd1	T	A	11: 86,448,631 (GRCm39)	S315T	probably damaging	Het
Ube2f	T	A	1: 91,192,941 (GRCm39)	C50*	probably null	Het
Vmn2r109	T	C	17: 20,785,006 (GRCm39)	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,026,667 (GRCm39)	T445A	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	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
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
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'- GTGACACCTTTAGTCCAGAGC -3'
(R):5'- GGCTAAAGTTCTCTATCAAGCACAC -3'

Sequencing Primer
(F):5'- AAGTCTTCTTGGTCGACAAACC -3'
(R):5'- GTTCTCTATCAAGCACACCAAGAAGG -3'

Posted On

2019-05-15