Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Btn1a1'

307463

Institutional Source

Beutler Lab

Gene Symbol

Btn1a1

Ensembl Gene

ENSMUSG00000000706

Gene Name

butyrophilin, subfamily 1, member A1

Synonyms

Btn

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23641162-23650071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23643434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 338 (R338S)

Ref Sequence

ENSEMBL: ENSMUSP00000041013 (fasta)

Gene Model

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

AlphaFold

Q62556

Predicted Effect

probably benign
Transcript: ENSMUST00000041674
AA Change: R338S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: R338S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,214,263 (GRCm39)	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,667,242 (GRCm39)	L435Q	probably damaging	Het
Bin1	T	C	18: 32,539,211 (GRCm39)	V48A	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Ccdc80	A	G	16: 44,916,455 (GRCm39)	T404A	probably benign	Het
Cd2ap	G	C	17: 43,119,690 (GRCm39)	H488D	probably damaging	Het
Cdon	A	G	9: 35,375,467 (GRCm39)	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786 (GRCm39)	N380D	probably benign	Het
Col6a5	G	A	9: 105,817,033 (GRCm39)	S426F	unknown	Het
Cr2	A	T	1: 194,848,122 (GRCm39)	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,452 (GRCm39)	K743M	probably benign	Het
Depdc1b	T	C	13: 108,505,370 (GRCm39)	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825 (GRCm39)	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079 (GRCm39)	R98L	probably benign	Het
Eml6	C	T	11: 29,753,167 (GRCm39)	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,193,349 (GRCm39)	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,845,111 (GRCm39)	N10S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,253,864 (GRCm39)	N194D	probably damaging	Het
Hey1	A	G	3: 8,729,638 (GRCm39)	L273P	probably damaging	Het
Irf6	A	G	1: 192,850,857 (GRCm39)	K365E	probably benign	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Lrp1	G	A	10: 127,389,265 (GRCm39)	A3217V	probably damaging	Het
Mei4	C	T	9: 81,809,336 (GRCm39)	R140C	probably benign	Het
Mir100hg	T	C	9: 41,501,570 (GRCm39)	L143P	probably damaging	Het
Mpo	A	T	11: 87,688,175 (GRCm39)	K278M	probably benign	Het
Mprip	T	C	11: 59,622,328 (GRCm39)		probably benign	Het
Mug2	G	C	6: 122,040,522 (GRCm39)	G691R	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nipal4	C	T	11: 46,041,473 (GRCm39)	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Pcdh1	A	G	18: 38,332,511 (GRCm39)	V164A	probably benign	Het
Phc2	T	C	4: 128,641,037 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,620,133 (GRCm39)	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,844,825 (GRCm39)	G29*	probably null	Het
Slc25a54	A	T	3: 109,019,479 (GRCm39)	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,400,992 (GRCm39)	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,900,764 (GRCm39)		probably null	Het
Strn	A	T	17: 78,965,369 (GRCm39)	I641N	probably damaging	Het
Tapbp	A	G	17: 34,139,457 (GRCm39)	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,343,445 (GRCm39)		probably benign	Het
Tnfrsf21	G	A	17: 43,348,901 (GRCm39)	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Utrn	T	A	10: 12,587,329 (GRCm39)		probably null	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,490,682 (GRCm39)	Y167H	probably damaging	Het
Washc1	T	C	17: 66,425,123 (GRCm39)	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,842,656 (GRCm39)		probably null	Het
Xrcc4	A	G	13: 90,219,752 (GRCm39)	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799 (GRCm39)	V770A	probably benign	Het
Zfp410	A	G	12: 84,385,527 (GRCm39)	N90S	probably damaging	Het

Other mutations in Btn1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Btn1a1	APN	13	23,645,907 (GRCm39)	missense	possibly damaging	0.56
IGL01608:Btn1a1	APN	13	23,645,778 (GRCm39)	missense	probably benign	0.00
IGL02538:Btn1a1	APN	13	23,643,385 (GRCm39)	missense	possibly damaging	0.50
IGL02795:Btn1a1	APN	13	23,644,786 (GRCm39)	critical splice acceptor site	probably null
IGL02933:Btn1a1	APN	13	23,644,697 (GRCm39)	missense	possibly damaging	0.63
R0063:Btn1a1	UTSW	13	23,649,267 (GRCm39)	splice site	probably null
R0855:Btn1a1	UTSW	13	23,648,489 (GRCm39)	missense	probably damaging	1.00
R1754:Btn1a1	UTSW	13	23,644,638 (GRCm39)	missense	probably benign	0.01
R2122:Btn1a1	UTSW	13	23,645,691 (GRCm39)	missense	probably damaging	1.00
R3110:Btn1a1	UTSW	13	23,645,721 (GRCm39)	missense	possibly damaging	0.67
R3112:Btn1a1	UTSW	13	23,645,721 (GRCm39)	missense	possibly damaging	0.67
R4169:Btn1a1	UTSW	13	23,649,325 (GRCm39)	missense	probably benign
R4924:Btn1a1	UTSW	13	23,648,396 (GRCm39)	splice site	probably benign
R4927:Btn1a1	UTSW	13	23,644,794 (GRCm39)	splice site	probably null
R5255:Btn1a1	UTSW	13	23,648,324 (GRCm39)	intron	probably benign
R5554:Btn1a1	UTSW	13	23,643,295 (GRCm39)	missense	possibly damaging	0.55
R5726:Btn1a1	UTSW	13	23,643,522 (GRCm39)	missense	probably damaging	1.00
R6228:Btn1a1	UTSW	13	23,648,521 (GRCm39)	missense	probably damaging	0.98
R6664:Btn1a1	UTSW	13	23,643,490 (GRCm39)	missense	probably benign	0.00
R7117:Btn1a1	UTSW	13	23,643,415 (GRCm39)	missense	possibly damaging	0.91
R7150:Btn1a1	UTSW	13	23,643,521 (GRCm39)	missense	probably damaging	1.00
R7151:Btn1a1	UTSW	13	23,643,483 (GRCm39)	missense	probably damaging	1.00
R7396:Btn1a1	UTSW	13	23,645,668 (GRCm39)	missense	probably benign	0.01
R7504:Btn1a1	UTSW	13	23,645,886 (GRCm39)	missense	probably benign	0.10
R7874:Btn1a1	UTSW	13	23,643,385 (GRCm39)	missense	possibly damaging	0.50
R7878:Btn1a1	UTSW	13	23,643,214 (GRCm39)	missense	possibly damaging	0.86
R8271:Btn1a1	UTSW	13	23,645,919 (GRCm39)	missense	probably benign
R8354:Btn1a1	UTSW	13	23,648,420 (GRCm39)	missense	probably benign	0.00
R8454:Btn1a1	UTSW	13	23,648,420 (GRCm39)	missense	probably benign	0.00
R8960:Btn1a1	UTSW	13	23,648,741 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCCCAGAACCCATTATCAGGAG -3'
(R):5'- TAGTGAGTGGCCTGATAGCTCC -3'

Sequencing Primer
(F):5'- CCCATTATCAGGAGTCATGGG -3'
(R):5'- CTATTCCACGTCTCTGGGAAGG -3'

Posted On

2015-04-17