Mutagenetix > Incidental Mutation

Incidental Mutation 'R5859:Btla'

455087

Institutional Source

Beutler Lab

Gene Symbol

Btla

Ensembl Gene

ENSMUSG00000052013

Gene Name

B and T lymphocyte associated

Synonyms

MMRRC Submission

044071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45043121-45073258 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 45059402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063654] [ENSMUST00000102802]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000063654

SMART Domains

Protein: ENSMUSP00000067877
Gene: ENSMUSG00000052013

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IG	49	143	2.92e-5	SMART
transmembrane domain	182	204	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102802

SMART Domains

Protein: ENSMUSP00000099866
Gene: ENSMUSG00000052013

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IG	49	143	2.92e-5	SMART
transmembrane domain	181	203	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Targeted inactivation of this gene leads to increased T cell activation. Homozygotes for a null allele show altered peripheral T cell anergy. Homozygotes for a different null allele show enhanced specific antibody responses, increased susceptibility to EAE, and prolonged allograft survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,303,477 (GRCm39)	V150E	probably benign	Het
Alg11	A	G	8: 22,555,857 (GRCm39)	K373E	probably benign	Het
Arl14ep	C	T	2: 106,799,398 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,608,284 (GRCm39)	G227R	probably benign	Het
Ash1l	C	T	3: 88,976,300 (GRCm39)	P2627S	probably damaging	Het
Btnl10	C	T	11: 58,813,138 (GRCm39)	P256S	probably benign	Het
Cep162	C	T	9: 87,086,145 (GRCm39)	A1060T	probably damaging	Het
Cfap54	T	A	10: 92,852,386 (GRCm39)	K907*	probably null	Het
Chpf	A	T	1: 75,452,072 (GRCm39)	F461I	probably damaging	Het
Chrdl2	A	G	7: 99,670,114 (GRCm39)	Y79C	probably damaging	Het
Copb2	G	A	9: 98,450,161 (GRCm39)	C40Y	probably benign	Het
Cyfip1	T	C	7: 55,574,929 (GRCm39)	L1060P	probably damaging	Het
Drg1	G	A	11: 3,209,273 (GRCm39)		probably benign	Het
Erich3	A	G	3: 154,468,134 (GRCm39)	D862G	possibly damaging	Het
Flii	G	T	11: 60,607,137 (GRCm39)	Y946*	probably null	Het
Glt8d2	T	C	10: 82,507,915 (GRCm39)	M1V	probably null	Het
Gm21136	T	A	7: 38,567,165 (GRCm39)		noncoding transcript	Het
Gramd1c	T	C	16: 43,812,454 (GRCm39)	T393A	possibly damaging	Het
Gucy2d	T	A	7: 98,101,090 (GRCm39)	I471N	probably benign	Het
Hps3	G	A	3: 20,063,034 (GRCm39)	T711M	probably benign	Het
Hs3st4	A	T	7: 123,582,831 (GRCm39)	D143V	probably benign	Het
Kif17	T	A	4: 138,018,744 (GRCm39)	M461K	possibly damaging	Het
Klhdc7a	T	A	4: 139,694,885 (GRCm39)	S21C	probably damaging	Het
Klk15	G	A	7: 43,587,800 (GRCm39)	R76H	probably benign	Het
Lnpk	G	A	2: 74,399,372 (GRCm39)	T57I	possibly damaging	Het
Ltbp2	A	G	12: 84,840,837 (GRCm39)	V999A	possibly damaging	Het
Ltbr	T	C	6: 125,289,771 (GRCm39)	H141R	probably damaging	Het
Lvrn	T	C	18: 47,026,816 (GRCm39)	F805L	probably damaging	Het
Ms4a13	A	T	19: 11,161,280 (GRCm39)	C86*	probably null	Het
Ncbp1	A	G	4: 46,163,026 (GRCm39)	N480S	probably benign	Het
Nelfcd	T	G	2: 174,268,856 (GRCm39)	*592G	probably null	Het
Neurog2	T	C	3: 127,427,664 (GRCm39)	V96A	probably benign	Het
Nod1	A	T	6: 54,907,162 (GRCm39)	W902R	probably benign	Het
Or12d13	T	C	17: 37,647,260 (GRCm39)	I288V	possibly damaging	Het
Or4k15c	T	A	14: 50,321,484 (GRCm39)	Y218F	probably damaging	Het
Or55b3	T	C	7: 102,126,957 (GRCm39)	Y40C	possibly damaging	Het
Or6d13	T	C	6: 116,517,861 (GRCm39)	L149P	probably damaging	Het
Pcdha11	A	T	18: 37,140,336 (GRCm39)	H655L	probably damaging	Het
Plpp7	A	G	2: 31,985,996 (GRCm39)	E58G	probably benign	Het
Psph	A	T	5: 129,867,685 (GRCm39)		probably benign	Het
Rab11fip1	A	C	8: 27,644,748 (GRCm39)	S346A	probably damaging	Het
Rreb1	C	A	13: 38,131,384 (GRCm39)	P1513T	probably benign	Het
Rreb1	C	T	13: 38,131,385 (GRCm39)	P1513L	probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Scap	A	G	9: 110,203,115 (GRCm39)	N263S	probably benign	Het
Sec24d	A	T	3: 123,072,961 (GRCm39)		probably benign	Het
Slain2	T	C	5: 73,105,888 (GRCm39)		probably benign	Het
Slc6a18	G	T	13: 73,816,278 (GRCm39)	T367N	probably benign	Het
Slk	T	A	19: 47,597,481 (GRCm39)	D96E	probably benign	Het
Spag5	G	A	11: 78,204,360 (GRCm39)	V514I	probably benign	Het
St8sia2	T	C	7: 73,616,654 (GRCm39)	D107G	probably damaging	Het
Tgfbr3	T	A	5: 107,288,381 (GRCm39)	I427F	probably benign	Het
Tlr2	T	G	3: 83,743,810 (GRCm39)	T758P	possibly damaging	Het
Tmem270	A	G	5: 134,931,738 (GRCm39)	V68A	probably benign	Het
Vmn2r106	T	A	17: 20,505,583 (GRCm39)	H37L	possibly damaging	Het
Vmn2r27	T	G	6: 124,177,647 (GRCm39)	R452S	probably damaging	Het
Wdr5	A	G	2: 27,423,362 (GRCm39)	Y252C	probably damaging	Het
Zswim9	C	T	7: 12,995,371 (GRCm39)	V262M	probably damaging	Het

Other mutations in Btla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Btla	APN	16	45,070,716 (GRCm39)	missense	probably benign	0.34
IGL01774:Btla	APN	16	45,070,911 (GRCm39)	missense	possibly damaging	0.78
IGL03252:Btla	APN	16	45,059,509 (GRCm39)	missense	possibly damaging	0.56
IGL03266:Btla	APN	16	45,059,638 (GRCm39)	missense	probably damaging	0.98
Conundrum	UTSW	16	45,059,661 (GRCm39)	missense	probably damaging	1.00
Enigmatic	UTSW	16	45,059,402 (GRCm39)	splice site	probably null
Mysterious	UTSW	16	45,070,936 (GRCm39)	nonsense	probably null
R1373:Btla	UTSW	16	45,044,783 (GRCm39)	missense	probably benign	0.09
R1864:Btla	UTSW	16	45,070,737 (GRCm39)	missense	probably damaging	0.97
R2439:Btla	UTSW	16	45,059,503 (GRCm39)	missense	probably damaging	1.00
R4133:Btla	UTSW	16	45,059,661 (GRCm39)	missense	probably damaging	1.00
R4193:Btla	UTSW	16	45,070,845 (GRCm39)	missense	probably benign	0.00
R4948:Btla	UTSW	16	45,063,091 (GRCm39)	missense	probably benign	0.33
R5597:Btla	UTSW	16	45,064,599 (GRCm39)	missense	probably benign
R5666:Btla	UTSW	16	45,070,782 (GRCm39)	missense	probably damaging	1.00
R5670:Btla	UTSW	16	45,070,782 (GRCm39)	missense	probably damaging	1.00
R5700:Btla	UTSW	16	45,070,936 (GRCm39)	nonsense	probably null
R6442:Btla	UTSW	16	45,070,713 (GRCm39)	missense	possibly damaging	0.82
R6442:Btla	UTSW	16	45,044,821 (GRCm39)	missense	probably benign	0.00
R6526:Btla	UTSW	16	45,059,457 (GRCm39)	missense	probably damaging	1.00
R6883:Btla	UTSW	16	45,063,092 (GRCm39)	missense	probably benign	0.09
R8016:Btla	UTSW	16	45,070,950 (GRCm39)	missense	probably damaging	0.99
R8098:Btla	UTSW	16	45,064,612 (GRCm39)	nonsense	probably null
R8803:Btla	UTSW	16	45,059,430 (GRCm39)	missense	probably benign	0.06
R9091:Btla	UTSW	16	45,064,656 (GRCm39)	missense	possibly damaging	0.72
R9270:Btla	UTSW	16	45,064,656 (GRCm39)	missense	possibly damaging	0.72
R9388:Btla	UTSW	16	45,059,454 (GRCm39)	missense	probably damaging	1.00
R9686:Btla	UTSW	16	45,070,872 (GRCm39)	missense	probably damaging	1.00
Z1176:Btla	UTSW	16	45,059,721 (GRCm39)	missense	probably damaging	0.98
Z1177:Btla	UTSW	16	45,059,635 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GGCAAGCATTTATTACGTGACAG -3'
(R):5'- GACCCATTATCACTGAGATGTATTG -3'

Sequencing Primer
(F):5'- ACGTGACAGTTGTGTACCAC -3'
(R):5'- CTTCCCAACTAGTGTATAGCTGAGG -3'

Posted On

2017-02-10