Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Btnl1'

515288

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34379494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 28 (E28G)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080254]

AlphaFold

Q7TST0

Predicted Effect

probably benign
Transcript: ENSMUST00000080254
AA Change: E28G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: E28G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	48	129	1.28e-10	SMART
Blast:IG_like	153	223	1e-26	BLAST
transmembrane domain	249	271	N/A	INTRINSIC
Pfam:SPRY	389	506	1.8e-9	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	G	A	1: 93,160,891		probably null	Het
4930590J08Rik	G	A	6: 91,923,137	G424D	probably damaging	Het
4932438A13Rik	A	G	3: 37,033,307	D4019G	probably benign	Het
Aco1	T	C	4: 40,185,028	V566A	probably benign	Het
Adat1	G	T	8: 111,978,072	T414K	probably benign	Het
Alox12e	A	G	11: 70,321,101	V194A	probably benign	Het
Anpep	A	G	7: 79,841,896	V119A	probably benign	Het
Atat1	C	A	17: 35,908,957		probably null	Het
Atp10a	G	A	7: 58,819,684	W1094*	probably null	Het
Bcl11b	T	C	12: 108,003,101	R15G	probably benign	Het
Ccnd1	A	G	7: 144,939,569	V42A	probably benign	Het
Cdyl2	T	A	8: 116,583,184	K344N	probably damaging	Het
Cep68	A	G	11: 20,230,498	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,229,974		probably null	Het
Cyp3a25	A	T	5: 145,998,547	D86E	probably damaging	Het
Dclk1	G	T	3: 55,247,194	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,482,045	K143*	probably null	Het
Duox2	A	G	2: 122,281,002	V1405A	probably benign	Het
Filip1	T	C	9: 79,819,624	E571G	probably damaging	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Jph1	T	C	1: 17,091,847	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,509,584	L535S	probably damaging	Het
Lepr	C	A	4: 101,764,954	S361*	probably null	Het
Lfng	T	A	5: 140,614,396		probably null	Het
Lpcat2	G	A	8: 92,886,581	A250T	probably benign	Het
Map3k4	A	T	17: 12,272,067	M159K	possibly damaging	Het
Notch3	A	T	17: 32,144,559	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,669,231	P477L	probably benign	Het
Olfr180	T	A	16: 58,916,264	I126L	probably damaging	Het
Olfr586	A	T	7: 103,121,929	F281Y	probably benign	Het
Olfr820	A	T	10: 130,017,913	H184L	probably benign	Het
Pald1	G	T	10: 61,350,935	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,662,969	D342G	probably damaging	Het
Plcb2	T	C	2: 118,715,468	S579G	probably damaging	Het
Prdm16	A	T	4: 154,341,367	S654T	probably benign	Het
Rab3gap2	C	A	1: 185,235,984	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,224,350	Q23*	probably null	Het
Slc14a2	T	G	18: 78,146,975	T920P	probably benign	Het
Slc17a6	G	A	7: 51,667,463	V411M	probably benign	Het
Stard6	G	A	18: 70,476,388	V33I	probably benign	Het
Syce1	A	T	7: 140,779,065	H178Q	probably damaging	Het
Syne2	T	A	12: 76,104,980	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 156,018,488	E274G	possibly damaging	Het
Trpm1	A	T	7: 64,268,297	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,455	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,893,559	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,411,859	N172K	probably benign	Het
Whrn	G	T	4: 63,418,592	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,413,110	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,444,796	S221P	probably damaging	Het

Other mutations in Btnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Btnl1	APN	17	34381117	missense	probably damaging	1.00
IGL01743:Btnl1	APN	17	34385685	missense	probably damaging	1.00
IGL02194:Btnl1	APN	17	34379535	missense	possibly damaging	0.90
IGL02329:Btnl1	APN	17	34382265	missense	possibly damaging	0.85
IGL03275:Btnl1	APN	17	34385512	missense	probably damaging	0.99
3-1:Btnl1	UTSW	17	34381056	missense	probably damaging	1.00
R0021:Btnl1	UTSW	17	34379494	missense	probably benign	0.01
R0021:Btnl1	UTSW	17	34379494	missense	probably benign	0.01
R0371:Btnl1	UTSW	17	34381057	missense	probably damaging	0.99
R1689:Btnl1	UTSW	17	34381208	nonsense	probably null
R1982:Btnl1	UTSW	17	34379751	missense	possibly damaging	0.81
R2109:Btnl1	UTSW	17	34379604	missense	probably damaging	1.00
R2134:Btnl1	UTSW	17	34385634	missense	possibly damaging	0.48
R2760:Btnl1	UTSW	17	34381038	missense	probably damaging	1.00
R4084:Btnl1	UTSW	17	34381159	missense	possibly damaging	0.91
R4586:Btnl1	UTSW	17	34382462	missense	probably damaging	1.00
R4611:Btnl1	UTSW	17	34379725	missense	probably damaging	0.99
R4625:Btnl1	UTSW	17	34379751	missense	probably null	0.99
R5579:Btnl1	UTSW	17	34381552	critical splice donor site	probably null
R5811:Btnl1	UTSW	17	34385529	missense	probably damaging	1.00
R6602:Btnl1	UTSW	17	34385748	missense	probably damaging	0.99
R6633:Btnl1	UTSW	17	34385331	missense	possibly damaging	0.86
R8134:Btnl1	UTSW	17	34385673	missense	possibly damaging	0.86
R8136:Btnl1	UTSW	17	34380040	splice site	probably null
R8840:Btnl1	UTSW	17	34385603	missense	probably benign	0.17
R9120:Btnl1	UTSW	17	34379707	missense	possibly damaging	0.85
R9515:Btnl1	UTSW	17	34381144	missense	probably benign	0.00
R9528:Btnl1	UTSW	17	34384378	missense	possibly damaging	0.91
R9577:Btnl1	UTSW	17	34384361	missense	probably benign	0.16
RF041:Btnl1	UTSW	17	34381368	missense	probably benign	0.04
X0026:Btnl1	UTSW	17	34377932	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCGAGACATTTATACACTGAAC -3'
(R):5'- CAATGGCTTGTCTCACCATCTG -3'

Sequencing Primer
(F):5'- CTGTGAAAGTGCAGTGTTG -3'
(R):5'- GTATTCCGGCATCTGCACC -3'

Posted On

2018-05-04