Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Btn1a1'

91831

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 #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

23641162-23650071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23645778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 197 (E197G)

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: E197G

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

SMART Domains

Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: E197G

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,038,158 (GRCm39)	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,298,601 (GRCm39)	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,741,746 (GRCm39)	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lrrc32	T	A	7: 98,148,564 (GRCm39)	V448D	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Ppm1h	C	T	10: 122,777,185 (GRCm39)	R103*	probably null	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 192,869,418 (GRCm39)	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	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
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
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

Posted On

2013-12-09