Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Btn1a1'

645705

Institutional Source

Beutler Lab

Gene Symbol

Btn1a1

Ensembl Gene

ENSMUSG00000000706

Gene Name

butyrophilin, subfamily 1, member A1

Synonyms

Btn

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23641162-23650071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23648420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 138 (V138L)

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: V138L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: V138L

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
AA Change: V138L

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106064
Gene: ENSMUSG00000000706
AA Change: V138L

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: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,635,103 (GRCm39)	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,616,045 (GRCm39)		probably benign	Het
Agt	G	A	8: 125,290,842 (GRCm39)	T155M	probably benign	Het
Atp8b3	A	G	10: 80,361,633 (GRCm39)	V763A	probably benign	Het
Cd163	A	T	6: 124,305,924 (GRCm39)	N1109I	probably benign	Het
Cideb	T	A	14: 55,992,598 (GRCm39)	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,130,130 (GRCm39)	T126A	probably benign	Het
Dnai3	T	C	3: 145,802,982 (GRCm39)	K70E	probably damaging	Het
Elfn1	T	C	5: 139,957,226 (GRCm39)	Y77H	probably damaging	Het
Eml3	A	G	19: 8,912,358 (GRCm39)	H386R	probably damaging	Het
Fbxo21	A	G	5: 118,133,479 (GRCm39)	D413G	probably damaging	Het
Fzd1	T	C	5: 4,807,336 (GRCm39)	Q82R	probably benign	Het
Gast	T	C	11: 100,227,394 (GRCm39)	L29P	probably benign	Het
Glb1l2	C	A	9: 26,717,713 (GRCm39)		probably benign	Het
Gm1110	C	G	9: 26,794,576 (GRCm39)	Q483H	probably benign	Het
Gm1110	T	A	9: 26,794,577 (GRCm39)	Q483L	probably benign	Het
Gpc6	T	C	14: 117,163,391 (GRCm39)	L15P	probably damaging	Het
Hagh	C	A	17: 25,076,536 (GRCm39)	S161*	probably null	Het
Hrh1	A	G	6: 114,457,814 (GRCm39)	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,843,560 (GRCm39)	M100K	probably damaging	Het
Itgb8	A	T	12: 119,134,513 (GRCm39)	V518D	probably benign	Het
Krt82	T	C	15: 101,450,238 (GRCm39)	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Met	A	G	6: 17,491,768 (GRCm39)	S177G	probably damaging	Het
Myl9	T	A	2: 156,623,048 (GRCm39)	I162N	possibly damaging	Het
Npat	T	A	9: 53,478,251 (GRCm39)	N973K	possibly damaging	Het
Or5p68	A	T	7: 107,945,889 (GRCm39)	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,901,190 (GRCm39)	D674V	possibly damaging	Het
Phtf1	T	A	3: 103,911,765 (GRCm39)	N702K	probably damaging	Het
Plaa	A	T	4: 94,457,714 (GRCm39)	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,038,011 (GRCm39)	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 85,691,776 (GRCm39)	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,575,864 (GRCm39)	Q685L	probably benign	Het
Ryr1	C	A	7: 28,715,142 (GRCm39)	G4661C	unknown	Het
Samd13	T	A	3: 146,352,157 (GRCm39)	M65L	probably benign	Het
Sdr42e2	T	A	7: 120,430,403 (GRCm39)	V420E	possibly damaging	Het
Sec22c	A	G	9: 121,524,721 (GRCm39)	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,014,329 (GRCm39)	T431K	probably benign	Het
Sin3b	A	G	8: 73,468,108 (GRCm39)	M277V	probably benign	Het
Sis	T	C	3: 72,854,834 (GRCm39)	T468A	possibly damaging	Het
Slitrk3	T	C	3: 72,956,513 (GRCm39)	N753S	probably benign	Het
Slitrk6	C	A	14: 110,989,478 (GRCm39)	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,870 (GRCm39)	A478T	probably damaging	Het
Styxl2	A	T	1: 165,935,702 (GRCm39)	N165K	probably damaging	Het
Sugp1	C	A	8: 70,524,247 (GRCm39)	Y617*	probably null	Het
Tinag	T	C	9: 76,938,977 (GRCm39)	D167G	probably damaging	Het
Tk2	A	G	8: 104,967,746 (GRCm39)		probably null	Het
Tmem209	A	T	6: 30,489,308 (GRCm39)	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,723,320 (GRCm39)	H260R	probably benign	Het
Tnfrsf14	T	A	4: 155,011,112 (GRCm39)	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,014,553 (GRCm39)	D285E	probably benign	Het
Togaram2	C	G	17: 72,004,873 (GRCm39)	A310G	probably benign	Het
Trpv3	A	G	11: 73,182,448 (GRCm39)	Y544C	probably damaging	Het
Ttl	T	A	2: 128,908,104 (GRCm39)	V13D	probably damaging	Het
Usp40	A	T	1: 87,908,694 (GRCm39)	D602E	probably benign	Het
Vamp5	A	G	6: 72,347,376 (GRCm39)		probably benign	Het
Vmn2r65	T	A	7: 84,589,402 (GRCm39)	H838L	possibly damaging	Het
Vps35l	T	A	7: 118,391,795 (GRCm39)	F493Y	probably benign	Het
Zfp960	T	A	17: 17,308,461 (GRCm39)	Y392N	probably benign	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
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
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'- CAACGGACCACACTCTGTTAGG -3'
(R):5'- ACTTCTATACCGGGATGGCC -3'

Sequencing Primer
(F):5'- GGGTGTCAATCCTTAGGCATTAAACC -3'
(R):5'- CGGGATGGCCAGGAGCAG -3'

Posted On

2020-09-02