Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Btn1a1'

359971

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btn1a1

Ensembl Gene

ENSMUSG00000000706

Gene Name

butyrophilin, subfamily 1, member A1

Synonyms

Btn

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

23456992-23465901 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 23460616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041674] [ENSMUST00000041674] [ENSMUST00000110434]

AlphaFold

Q62556

Predicted Effect

probably null
Transcript: ENSMUST00000041674

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
IGv	46	127	1.97e-11	SMART
IG_like	150	237	9.03e1	SMART
transmembrane domain	246	268	N/A	INTRINSIC
PRY	303	355	2.64e-27	SMART
SPRY	356	477	1.46e-39	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000041674

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
IGv	46	127	1.97e-11	SMART
IG_like	150	237	9.03e1	SMART
transmembrane domain	246	268	N/A	INTRINSIC
PRY	303	355	2.64e-27	SMART
SPRY	356	477	1.46e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110434

SMART Domains

Protein: ENSMUSP00000106064
Gene: ENSMUSG00000000706

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
IGv	46	127	1.97e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225831

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired lactation and abnormal lipid accumulation in the mammary gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748 (GRCm38)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642 (GRCm38)		probably benign	Het
Acvr1	A	G	2: 58,462,952 (GRCm38)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742 (GRCm38)	V247M	probably damaging	Het
Btnl9	A	T	11: 49,174,867 (GRCm38)		probably benign	Het
Dbx1	T	A	7: 49,636,577 (GRCm38)	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073 (GRCm38)		probably benign	Het
Dnmt1	T	C	9: 20,927,111 (GRCm38)	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978 (GRCm38)	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778 (GRCm38)	Y257C	probably benign	Het
Fam3d	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Fbxw19	C	A	9: 109,495,818 (GRCm38)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613 (GRCm38)	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871 (GRCm38)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm38)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673 (GRCm38)		probably benign	Het
Gpr45	C	T	1: 43,032,493 (GRCm38)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517 (GRCm38)	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553 (GRCm38)		probably benign	Het
Lama1	A	G	17: 67,738,894 (GRCm38)		probably null	Het
Lgr4	T	C	2: 110,008,210 (GRCm38)		probably benign	Het
Lrrc9	C	T	12: 72,478,768 (GRCm38)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432 (GRCm38)	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406 (GRCm38)		probably null	Het
Nectin1	A	G	9: 43,803,552 (GRCm38)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285 (GRCm38)	H87N	probably damaging	Het
Or1e17	G	A	11: 73,940,929 (GRCm38)	V228I	probably benign	Het
Or2ah1	T	A	2: 85,823,512 (GRCm38)	C180*	probably null	Het
Or4b13	A	G	2: 90,252,562 (GRCm38)	L142P	probably damaging	Het
Or52a20	T	A	7: 103,716,883 (GRCm38)	F96L	probably benign	Het
Or5h17	G	T	16: 59,000,277 (GRCm38)	L197F	possibly damaging	Het
Pcsk1	G	T	13: 75,112,620 (GRCm38)	G321C	probably damaging	Het
Poglut3	A	G	9: 53,392,105 (GRCm38)	D99G	probably damaging	Het
Prrc2c	G	T	1: 162,714,299 (GRCm38)	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950 (GRCm38)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190 (GRCm38)	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680 (GRCm38)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411 (GRCm38)	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593 (GRCm38)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373 (GRCm38)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490 (GRCm38)		probably benign	Het
Slc22a30	C	T	19: 8,400,895 (GRCm38)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112 (GRCm38)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419 (GRCm38)	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083 (GRCm38)	V255F	probably benign	Het
St5	T	C	7: 109,556,364 (GRCm38)	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223 (GRCm38)	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549 (GRCm38)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959 (GRCm38)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389 (GRCm38)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701 (GRCm38)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302 (GRCm38)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277 (GRCm38)	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090 (GRCm38)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136 (GRCm38)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438 (GRCm38)	E273G	possibly damaging	Het

Other mutations in Btn1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Btn1a1	APN	13	23,461,737 (GRCm38)	missense	possibly damaging	0.56
IGL01608:Btn1a1	APN	13	23,461,608 (GRCm38)	missense	probably benign	0.00
IGL02538:Btn1a1	APN	13	23,459,215 (GRCm38)	missense	possibly damaging	0.50
IGL02933:Btn1a1	APN	13	23,460,527 (GRCm38)	missense	possibly damaging	0.63
R0063:Btn1a1	UTSW	13	23,465,097 (GRCm38)	splice site	probably null
R0855:Btn1a1	UTSW	13	23,464,319 (GRCm38)	missense	probably damaging	1.00
R1754:Btn1a1	UTSW	13	23,460,468 (GRCm38)	missense	probably benign	0.01
R2122:Btn1a1	UTSW	13	23,461,521 (GRCm38)	missense	probably damaging	1.00
R3110:Btn1a1	UTSW	13	23,461,551 (GRCm38)	missense	possibly damaging	0.67
R3112:Btn1a1	UTSW	13	23,461,551 (GRCm38)	missense	possibly damaging	0.67
R3941:Btn1a1	UTSW	13	23,459,264 (GRCm38)	missense	probably benign	0.01
R4169:Btn1a1	UTSW	13	23,465,155 (GRCm38)	missense	probably benign
R4924:Btn1a1	UTSW	13	23,464,226 (GRCm38)	splice site	probably benign
R4927:Btn1a1	UTSW	13	23,460,624 (GRCm38)	splice site	probably null
R5255:Btn1a1	UTSW	13	23,464,154 (GRCm38)	intron	probably benign
R5554:Btn1a1	UTSW	13	23,459,125 (GRCm38)	missense	possibly damaging	0.55
R5726:Btn1a1	UTSW	13	23,459,352 (GRCm38)	missense	probably damaging	1.00
R6228:Btn1a1	UTSW	13	23,464,351 (GRCm38)	missense	probably damaging	0.98
R6664:Btn1a1	UTSW	13	23,459,320 (GRCm38)	missense	probably benign	0.00
R7117:Btn1a1	UTSW	13	23,459,245 (GRCm38)	missense	possibly damaging	0.91
R7150:Btn1a1	UTSW	13	23,459,351 (GRCm38)	missense	probably damaging	1.00
R7151:Btn1a1	UTSW	13	23,459,313 (GRCm38)	missense	probably damaging	1.00
R7396:Btn1a1	UTSW	13	23,461,498 (GRCm38)	missense	probably benign	0.01
R7504:Btn1a1	UTSW	13	23,461,716 (GRCm38)	missense	probably benign	0.10
R7874:Btn1a1	UTSW	13	23,459,215 (GRCm38)	missense	possibly damaging	0.50
R7878:Btn1a1	UTSW	13	23,459,044 (GRCm38)	missense	possibly damaging	0.86
R8271:Btn1a1	UTSW	13	23,461,749 (GRCm38)	missense	probably benign
R8354:Btn1a1	UTSW	13	23,464,250 (GRCm38)	missense	probably benign	0.00
R8454:Btn1a1	UTSW	13	23,464,250 (GRCm38)	missense	probably benign	0.00
R8960:Btn1a1	UTSW	13	23,464,571 (GRCm38)	missense	possibly damaging	0.95

Posted On

2015-12-18