Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Lax1'

443331

Institutional Source

Beutler Lab

Gene Symbol

Lax1

Ensembl Gene

ENSMUSG00000051998

Gene Name

lymphocyte transmembrane adaptor 1

Synonyms

E430019B13Rik

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133606829-133617846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133607914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 276 (P276S)

Ref Sequence

ENSEMBL: ENSMUSP00000131126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169295] [ENSMUST00000189524]

AlphaFold

Q8BHB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000169295
AA Change: P276S

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

SMART Domains

Protein: ENSMUSP00000131126
Gene: ENSMUSG00000051998
AA Change: P276S

Domain	Start	End	E-Value	Type
Pfam:LAX	27	378	2.4e-172	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189524

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit spontaneous germinal center formation and increased IgG1, IgG2a, and IgE levels. T and B cells are hyperresponsive upon engagement of T or B AgRs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het

Other mutations in Lax1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Lax1	APN	1	133,608,137 (GRCm39)	missense	probably benign	0.09
IGL01568:Lax1	APN	1	133,608,038 (GRCm39)	missense	probably benign	0.00
IGL02352:Lax1	APN	1	133,608,208 (GRCm39)	missense	possibly damaging	0.95
IGL02359:Lax1	APN	1	133,608,208 (GRCm39)	missense	possibly damaging	0.95
IGL02449:Lax1	APN	1	133,607,874 (GRCm39)	missense	probably damaging	0.98
yon	UTSW	1	133,610,774 (GRCm39)	missense	probably benign	0.20
R0391:Lax1	UTSW	1	133,607,804 (GRCm39)	missense	probably benign	0.24
R1728:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1728:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1728:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1729:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1729:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1729:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1730:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1730:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1730:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1739:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1739:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1739:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1762:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1762:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1762:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1783:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1783:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1783:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1784:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1784:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1784:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R1785:Lax1	UTSW	1	133,611,372 (GRCm39)	missense	probably damaging	1.00
R1785:Lax1	UTSW	1	133,608,307 (GRCm39)	missense	probably benign	0.00
R1785:Lax1	UTSW	1	133,607,716 (GRCm39)	missense	probably benign
R2254:Lax1	UTSW	1	133,607,971 (GRCm39)	missense	probably damaging	0.99
R2906:Lax1	UTSW	1	133,616,643 (GRCm39)	start codon destroyed	probably null	0.53
R2912:Lax1	UTSW	1	133,611,791 (GRCm39)	missense	possibly damaging	0.77
R4022:Lax1	UTSW	1	133,610,774 (GRCm39)	missense	probably benign	0.20
R5234:Lax1	UTSW	1	133,608,321 (GRCm39)	missense	probably benign	0.02
R5695:Lax1	UTSW	1	133,608,316 (GRCm39)	missense	probably damaging	1.00
R6003:Lax1	UTSW	1	133,611,834 (GRCm39)	missense	probably benign	0.24
R6362:Lax1	UTSW	1	133,608,334 (GRCm39)	missense	possibly damaging	0.92
R6493:Lax1	UTSW	1	133,607,530 (GRCm39)	missense	probably benign
R6494:Lax1	UTSW	1	133,608,186 (GRCm39)	missense	probably damaging	0.99
R6932:Lax1	UTSW	1	133,607,896 (GRCm39)	missense	probably benign	0.39
R7938:Lax1	UTSW	1	133,607,896 (GRCm39)	missense	probably benign	0.00
R8054:Lax1	UTSW	1	133,611,345 (GRCm39)	missense	probably benign	0.00
R8476:Lax1	UTSW	1	133,611,326 (GRCm39)	missense	probably benign	0.00
R9201:Lax1	UTSW	1	133,608,205 (GRCm39)	missense	possibly damaging	0.95
R9287:Lax1	UTSW	1	133,607,931 (GRCm39)	missense	probably benign	0.00
R9416:Lax1	UTSW	1	133,611,752 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CACTGGAGTCTTCGCTTGACTG -3'
(R):5'- TTTGCTGAAGGAGGGCATGC -3'

Sequencing Primer
(F):5'- TATGGACCATGGCACTGTCC -3'
(R):5'- CATGCAGGCTGTGGGAATGC -3'

Posted On

2016-11-09