Mutagenetix > Incidental Mutation

Incidental Mutation 'R7150:Btn1a1'

554083

Institutional Source

Beutler Lab

Gene Symbol

Btn1a1

Ensembl Gene

ENSMUSG00000000706

Gene Name

butyrophilin, subfamily 1, member A1

Synonyms

Btn

MMRRC Submission

045252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23641162-23650071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23643521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 309 (D309E)

Ref Sequence

ENSEMBL: ENSMUSP00000041013 (fasta)

Gene Model

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

AlphaFold

Q62556

Predicted Effect

probably damaging
Transcript: ENSMUST00000041674
AA Change: D309E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: D309E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	C	8: 125,589,653 (GRCm39)	D20G	possibly damaging	Het
5430401F13Rik	T	C	6: 131,529,630 (GRCm39)	S75P	probably benign	Het
Acad8	A	T	9: 26,889,750 (GRCm39)	F315I	probably damaging	Het
Adcy5	A	G	16: 35,118,904 (GRCm39)	Y1085C	probably damaging	Het
Aldh1a7	T	C	19: 20,693,382 (GRCm39)	K179R	probably damaging	Het
Arhgap10	C	T	8: 77,977,583 (GRCm39)	G776R	probably damaging	Het
Arhgap35	A	C	7: 16,296,491 (GRCm39)	F858C	probably damaging	Het
Ash1l	C	T	3: 88,984,381 (GRCm39)	R2957W	probably damaging	Het
Atp6ap1l	G	T	13: 91,031,848 (GRCm39)	A278E	probably damaging	Het
Casd1	C	T	6: 4,624,211 (GRCm39)	R335C	probably benign	Het
Ceacam3	A	G	7: 16,885,487 (GRCm39)	Q30R		Het
Cfap20	C	T	8: 96,148,795 (GRCm39)	C119Y	probably damaging	Het
Cntrl	A	T	2: 35,055,457 (GRCm39)		probably null	Het
Crot	A	G	5: 9,037,878 (GRCm39)	V146A	probably damaging	Het
Cx3cl1	A	G	8: 95,506,591 (GRCm39)	S199G	probably damaging	Het
Ddhd1	A	T	14: 45,895,263 (GRCm39)	L69Q	probably damaging	Het
Dnah12	T	C	14: 26,583,689 (GRCm39)	F3195L	probably damaging	Het
Dpy19l3	A	T	7: 35,408,055 (GRCm39)	D450E	probably benign	Het
Ercc3	A	T	18: 32,390,325 (GRCm39)	N538I	probably damaging	Het
Fzd1	A	T	5: 4,806,145 (GRCm39)	V479E	probably benign	Het
Gart	T	C	16: 91,425,351 (GRCm39)	Y638C	possibly damaging	Het
Gm2381	C	A	7: 42,469,888 (GRCm39)	V79L	probably benign	Het
Gucy1b1	T	C	3: 81,950,469 (GRCm39)	Y312C	probably damaging	Het
Hecw1	T	A	13: 14,609,045 (GRCm39)	M1L	probably benign	Het
Ip6k2	A	G	9: 108,673,930 (GRCm39)	I99V	unknown	Het
Itgb5	C	T	16: 33,761,013 (GRCm39)	T616I	probably benign	Het
Kmt2c	A	C	5: 25,505,360 (GRCm39)	V3316G	possibly damaging	Het
Lama3	C	T	18: 12,601,346 (GRCm39)	R1008C	probably damaging	Het
Lin54	T	C	5: 100,633,159 (GRCm39)	D175G	possibly damaging	Het
Lrp2	A	G	2: 69,318,395 (GRCm39)	S2019P	probably damaging	Het
Lrrc9	A	G	12: 72,513,726 (GRCm39)	E528G	probably benign	Het
Lyz3	T	C	10: 117,073,647 (GRCm39)	N62S	probably benign	Het
Mto1	A	G	9: 78,364,565 (GRCm39)	H299R	probably damaging	Het
Myo19	G	A	11: 84,796,439 (GRCm39)	G684R	probably benign	Het
Or14c45	A	C	7: 86,176,322 (GRCm39)	D119A	probably damaging	Het
Or7g32	A	T	9: 19,408,145 (GRCm39)	M34L	probably benign	Het
Pcdh18	C	A	3: 49,709,143 (GRCm39)	C724F	probably benign	Het
Pcdha3	A	T	18: 37,080,165 (GRCm39)	K302N	probably benign	Het
Pcdhgb2	T	C	18: 37,825,300 (GRCm39)	F764L	possibly damaging	Het
Pik3cb	C	A	9: 98,975,143 (GRCm39)	G246W	probably damaging	Het
Polr2m	A	T	9: 71,390,626 (GRCm39)	I192N	probably damaging	Het
Polr2m	G	T	9: 71,390,815 (GRCm39)	T129K	probably benign	Het
Pramel48	A	G	5: 95,630,680 (GRCm39)	I186V	possibly damaging	Het
Ptpn4	C	T	1: 119,619,475 (GRCm39)		probably null	Het
Scgb1b19	A	T	7: 32,986,940 (GRCm39)	K30N	possibly damaging	Het
Shpk	A	G	11: 73,104,315 (GRCm39)	T155A	probably damaging	Het
Slit3	T	C	11: 35,461,546 (GRCm39)	Y261H	probably damaging	Het
Sox13	A	G	1: 133,313,243 (GRCm39)	F438L	possibly damaging	Het
Sphk1	A	T	11: 116,425,907 (GRCm39)	E61D	probably benign	Het
St18	A	G	1: 6,873,243 (GRCm39)	D326G	probably damaging	Het
Syde1	G	A	10: 78,422,032 (GRCm39)	Q566*	probably null	Het
Tacc2	A	G	7: 130,330,807 (GRCm39)	T254A	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Trim5	A	T	7: 103,926,017 (GRCm39)	N181K	probably damaging	Het
Trpc7	A	T	13: 56,931,509 (GRCm39)	I730K	probably benign	Het
Uqcrc1	T	A	9: 108,776,926 (GRCm39)	M377K	probably benign	Het
Vmn2r4	T	C	3: 64,305,898 (GRCm39)	N508S	probably benign	Het
Vmp1	A	T	11: 86,477,402 (GRCm39)	S333T	probably benign	Het
Vps50	T	A	6: 3,578,854 (GRCm39)	M639K	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	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
R3941:Btn1a1	UTSW	13	23,643,434 (GRCm39)	missense	probably benign	0.01
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
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'- AGGAGTCATGGGGTCAAACC -3'
(R):5'- TGCCAGTAAGAGATTGGGGC -3'

Sequencing Primer
(F):5'- AATGGCCCAGTCAGTTCTATC -3'
(R):5'- CTAGAGAGAAGGACTGCTAGTGAGTG -3'

Posted On

2019-05-15