Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Btn1a1'

452514

Institutional Source

Beutler Lab

Gene Symbol

Btn1a1

Ensembl Gene

ENSMUSG00000000706

Gene Name

butyrophilin, subfamily 1, member A1

Synonyms

Btn

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23456992-23465901 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23459352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 309 (D309V)

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: D309V

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

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: D309V

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

0.5873

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 128,236,660 (GRCm38)	K254E	probably damaging	Het
Aak1	C	T	6: 86,925,124 (GRCm38)	Q92*	probably null	Het
Acss3	T	C	10: 107,123,322 (GRCm38)	T88A	possibly damaging	Het
Adcy4	A	T	14: 55,783,661 (GRCm38)	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,512,306 (GRCm38)	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,463,459 (GRCm38)	S402N	probably benign	Het
Cdh23	C	T	10: 60,407,480 (GRCm38)	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,710,535 (GRCm38)		probably benign	Het
Cln3	T	C	7: 126,575,501 (GRCm38)	T276A	probably null	Het
CN725425	A	G	15: 91,260,503 (GRCm38)	E523G	possibly damaging	Het
Crppa	T	C	12: 36,547,830 (GRCm38)	V320A	probably damaging	Het
Cspg4	A	T	9: 56,885,904 (GRCm38)	T308S	probably damaging	Het
Dgkh	G	T	14: 78,624,902 (GRCm38)	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,443,132 (GRCm38)	D846G	probably damaging	Het
Fmo4	A	G	1: 162,808,259 (GRCm38)		probably null	Het
Foxp4	A	G	17: 47,869,108 (GRCm38)	Y623H	unknown	Het
Fxr2	T	C	11: 69,633,346 (GRCm38)	V10A	probably benign	Het
Gm10271	T	C	10: 116,956,887 (GRCm38)		probably null	Het
Gsk3b	T	C	16: 38,208,136 (GRCm38)		probably benign	Het
Ift43	T	A	12: 86,162,183 (GRCm38)	D169E	probably damaging	Het
Ift57	T	A	16: 49,699,498 (GRCm38)	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,896,674 (GRCm38)		probably benign	Het
Kl	A	G	5: 150,991,538 (GRCm38)	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,509,147 (GRCm38)	D1140G	probably damaging	Het
Map1a	G	A	2: 121,305,065 (GRCm38)	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,351,332 (GRCm38)	G611C	probably damaging	Het
Mical1	A	G	10: 41,483,696 (GRCm38)		probably benign	Het
Myh14	A	G	7: 44,643,462 (GRCm38)		probably null	Het
Myh8	T	A	11: 67,294,566 (GRCm38)	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,509,420 (GRCm38)	Q817K	probably benign	Het
Nin	A	C	12: 70,078,179 (GRCm38)	V123G	probably damaging	Het
Nup160	A	G	2: 90,717,851 (GRCm38)	D976G	probably damaging	Het
Nup210l	A	T	3: 90,129,207 (GRCm38)		probably null	Het
Or5an1c	A	G	19: 12,241,280 (GRCm38)	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,538 (GRCm38)		probably benign	Het
Podxl2	T	C	6: 88,848,739 (GRCm38)	D400G	probably damaging	Het
Pygl	C	T	12: 70,191,142 (GRCm38)	W707*	probably null	Het
Rnf19b	T	C	4: 129,071,892 (GRCm38)	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,416,458 (GRCm38)	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,533,847 (GRCm38)	R569H	probably damaging	Het
Sdk2	A	G	11: 113,851,800 (GRCm38)	L761P	probably damaging	Het
Shroom3	C	T	5: 92,943,005 (GRCm38)	P1124S	probably benign	Het
Sirt4	A	G	5: 115,479,646 (GRCm38)	V317A	probably benign	Het
Skic3	T	C	13: 76,118,347 (GRCm38)	Y238H	probably damaging	Het
Slc12a2	G	T	18: 57,896,354 (GRCm38)	A271S	probably benign	Het
Slc6a9	A	G	4: 117,864,013 (GRCm38)	Y208C	probably damaging	Het
Snap23	T	A	2: 120,584,271 (GRCm38)		probably benign	Het
Sra1	C	T	18: 36,670,173 (GRCm38)		probably benign	Het
Srbd1	C	T	17: 86,120,729 (GRCm38)	D359N	possibly damaging	Het
Srp19	A	G	18: 34,331,773 (GRCm38)	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,396,083 (GRCm38)	S205P	probably damaging	Het
Sv2b	T	C	7: 75,124,214 (GRCm38)	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,267,574 (GRCm38)	V518M	probably damaging	Het
Tlr4	A	G	4: 66,840,415 (GRCm38)	K482E	probably benign	Het
Tpm1	G	A	9: 67,023,412 (GRCm38)	L310F	probably damaging	Het
Trpm6	A	G	19: 18,853,617 (GRCm38)	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,505,317 (GRCm38)	L65*	probably null	Het
Ttc39c	C	A	18: 12,697,935 (GRCm38)	A284D	probably damaging	Het
Txndc16	G	A	14: 45,165,764 (GRCm38)	H297Y	probably benign	Het
Utrn	A	T	10: 12,669,806 (GRCm38)	D1698E	probably benign	Het
Vmn1r232	C	T	17: 20,913,339 (GRCm38)	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,217,620 (GRCm38)	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,559,107 (GRCm38)	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,448,553 (GRCm38)	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,330,829 (GRCm38)	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,403,321 (GRCm38)	D2846E	probably benign	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
IGL02795:Btn1a1	APN	13	23,460,616 (GRCm38)	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGAGTCATGGGGTCAAAC -3'
(R):5'- TGCCAGTAAGAGATTGGGGC -3'

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

Posted On

2017-01-03