Mutagenetix > Incidental Mutation

Incidental Mutation 'R0512:Malt1'

47946

Institutional Source

Beutler Lab

Gene Symbol

Malt1

Ensembl Gene

ENSMUSG00000032688

Gene Name

MALT1 paracaspase

Synonyms

D430033E09Rik, paracaspase, Pcasp1

MMRRC Submission

038706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R0512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65564010-65611959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65591271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 358 (N358K)

Ref Sequence

ENSEMBL: ENSMUSP00000153585 (fasta)

Gene Model

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

AlphaFold

Q2TBA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049248
AA Change: N347K

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

SMART Domains

Protein: ENSMUSP00000048376
Gene: ENSMUSG00000032688
AA Change: N347K

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: N358K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225659

Meta Mutation Damage Score

0.9425

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (92/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	G	5: 115,001,569 (GRCm39)	M22R	probably benign	Het
Abca8b	C	A	11: 109,841,476 (GRCm39)	M1039I	probably benign	Het
Actn2	A	T	13: 12,292,301 (GRCm39)	I653N	probably damaging	Het
Actr8	G	T	14: 29,700,513 (GRCm39)	V31L	probably benign	Het
Adam30	T	C	3: 98,069,441 (GRCm39)	C425R	probably damaging	Het
Armc1	A	G	3: 19,203,659 (GRCm39)	V89A	possibly damaging	Het
Atr	T	C	9: 95,817,579 (GRCm39)	M2090T	probably damaging	Het
Braf	T	A	6: 39,641,923 (GRCm39)		probably benign	Het
Cant1	A	T	11: 118,302,091 (GRCm39)	N75K	probably benign	Het
Chd7	C	T	4: 8,805,139 (GRCm39)		probably benign	Het
Clec16a	A	G	16: 10,432,444 (GRCm39)	Y488C	probably damaging	Het
Col6a3	A	T	1: 90,749,520 (GRCm39)		probably benign	Het
Col9a2	T	A	4: 120,911,504 (GRCm39)	M615K	probably benign	Het
Dedd	G	A	1: 171,168,498 (GRCm39)	R228H	probably damaging	Het
Dhtkd1	C	T	2: 5,908,902 (GRCm39)	D731N	probably damaging	Het
Ercc2	A	G	7: 19,127,812 (GRCm39)	T651A	probably damaging	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fam193a	T	C	5: 34,583,735 (GRCm39)	S19P	probably damaging	Het
Fam43a	T	C	16: 30,420,553 (GRCm39)	V379A	possibly damaging	Het
Fat1	C	A	8: 45,404,369 (GRCm39)	Y373*	probably null	Het
Fbxl15	A	C	19: 46,317,861 (GRCm39)	D181A	probably damaging	Het
Flt3	A	T	5: 147,278,080 (GRCm39)	C831*	probably null	Het
Foxj3	T	A	4: 119,443,033 (GRCm39)		probably benign	Het
Glul	T	C	1: 153,781,132 (GRCm39)		probably benign	Het
Gm16380	A	T	9: 53,791,529 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,158 (GRCm39)		noncoding transcript	Het
Hipk1	A	G	3: 103,667,890 (GRCm39)	F559S	possibly damaging	Het
Hnf4g	A	T	3: 3,716,682 (GRCm39)	I284F	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icosl	A	G	10: 77,907,800 (GRCm39)	N120S	possibly damaging	Het
Ift172	A	G	5: 31,442,821 (GRCm39)	V155A	possibly damaging	Het
Kdm4c	A	G	4: 74,252,031 (GRCm39)	E426G	probably benign	Het
Kif23	A	G	9: 61,826,257 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,086,129 (GRCm39)	C1456Y	possibly damaging	Het
Lamc3	T	A	2: 31,827,980 (GRCm39)	L1378Q	probably damaging	Het
Larp1b	T	A	3: 40,924,469 (GRCm39)	L121M	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lepr	A	C	4: 101,671,901 (GRCm39)	D975A	possibly damaging	Het
Magi1	A	G	6: 93,671,045 (GRCm39)	V1068A	probably damaging	Het
Mfap4	T	A	11: 61,378,771 (GRCm39)	W240R	probably damaging	Het
Mis18a	A	G	16: 90,523,244 (GRCm39)	V84A	possibly damaging	Het
Mns1	A	G	9: 72,356,753 (GRCm39)	E308G	possibly damaging	Het
Mpp2	C	A	11: 101,953,116 (GRCm39)	L258F	possibly damaging	Het
Myh2	A	G	11: 67,079,504 (GRCm39)	E987G	probably damaging	Het
Myof	A	G	19: 37,942,972 (GRCm39)	V702A	possibly damaging	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Nrxn2	A	G	19: 6,567,228 (GRCm39)	T1360A	probably damaging	Het
Obox6	A	G	7: 15,567,874 (GRCm39)	I191T	probably benign	Het
Pacs2	G	T	12: 113,014,547 (GRCm39)	R236L	probably damaging	Het
Pcdhb2	T	G	18: 37,429,032 (GRCm39)	V335G	probably damaging	Het
Phyhipl	T	C	10: 70,404,748 (GRCm39)	I140M	probably damaging	Het
Pkhd1	T	C	1: 20,380,738 (GRCm39)		probably benign	Het
Ppp1r3b	T	G	8: 35,851,571 (GRCm39)	C137G	probably damaging	Het
Prdm13	T	A	4: 21,678,490 (GRCm39)	I667F	probably damaging	Het
Prex2	A	G	1: 11,270,157 (GRCm39)	M1281V	probably benign	Het
Rab40b	A	G	11: 121,250,412 (GRCm39)	F81L	probably damaging	Het
Rb1cc1	T	C	1: 6,318,767 (GRCm39)	S729P	probably damaging	Het
Rcl1	A	G	19: 29,105,497 (GRCm39)	D228G	probably damaging	Het
Rhbdf1	A	T	11: 32,160,875 (GRCm39)	C19*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf150	G	A	8: 83,590,807 (GRCm39)	V57M	probably benign	Het
Rp9	A	G	9: 22,370,015 (GRCm39)	F51L	probably benign	Het
Sav1	A	T	12: 70,015,975 (GRCm39)	Y274*	probably null	Het
Scn4a	A	T	11: 106,236,503 (GRCm39)	D252E	probably damaging	Het
Scn5a	T	C	9: 119,379,724 (GRCm39)	T187A	probably damaging	Het
Sigirr	T	A	7: 140,672,333 (GRCm39)	D229V	probably benign	Het
Slc39a13	T	C	2: 90,896,031 (GRCm39)	S157G	possibly damaging	Het
Slc6a20a	A	G	9: 123,489,471 (GRCm39)	S191P	probably damaging	Het
Sorl1	C	A	9: 41,979,128 (GRCm39)	A457S	probably benign	Het
Spag5	A	G	11: 78,210,412 (GRCm39)		probably benign	Het
Spon1	A	G	7: 113,436,066 (GRCm39)	E119G	possibly damaging	Het
Spred2	T	A	11: 19,958,485 (GRCm39)		probably benign	Het
Sprr3	T	G	3: 92,364,784 (GRCm39)	Q20P	possibly damaging	Het
Strn3	A	T	12: 51,673,966 (GRCm39)	F464L	possibly damaging	Het
Sun1	A	G	5: 139,220,602 (GRCm39)		probably benign	Het
Sypl2	A	G	3: 108,133,486 (GRCm39)	W28R	possibly damaging	Het
Syt5	A	T	7: 4,545,813 (GRCm39)	V150D	probably damaging	Het
Tasor	T	C	14: 27,168,363 (GRCm39)	F302L	probably damaging	Het
Thsd7a	A	G	6: 12,379,604 (GRCm39)	I940T	possibly damaging	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tnrc6a	T	A	7: 122,785,951 (GRCm39)		probably benign	Het
Trp53	T	A	11: 69,479,509 (GRCm39)	L203Q	probably damaging	Het
Tubgcp4	T	C	2: 121,005,900 (GRCm39)	V96A	probably benign	Het
Usp17la	A	G	7: 104,510,246 (GRCm39)	T284A	possibly damaging	Het
Usp34	T	C	11: 23,401,997 (GRCm39)	M2409T	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,449,350 (GRCm39)	I296T	probably benign	Het
Vmn2r67	A	G	7: 84,799,900 (GRCm39)	V446A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp267	T	C	3: 36,220,262 (GRCm39)	C762R	probably damaging	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
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
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'- GCTCAGAGGAGATAGCTCATCCACA -3'
(R):5'- GTGCAGCACTGTATGCCAGGAA -3'

Sequencing Primer
(F):5'- GGAAAAAAAGTCCTTGTGAAATACC -3'
(R):5'- gcagagtcatctcttcagcc -3'

Posted On

2013-06-12