Mutagenetix > Incidental Mutation

Incidental Mutation 'R5811:Btnl1'

447533

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

043213-MU

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34385529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 428 (K428M)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080254
AA Change: K428M

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

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: K428M

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chid1	G	A	7: 141,530,253	T53M	probably damaging	Het
Clnk	A	G	5: 38,713,147	V356A	probably damaging	Het
Cryba4	C	T	5: 112,251,071	V36I	probably benign	Het
Dct	A	G	14: 118,013,188	V466A	probably benign	Het
Dnmt3l	A	G	10: 78,052,095	D146G	possibly damaging	Het
Epas1	A	G	17: 86,823,775	N328D	probably damaging	Het
Fat4	C	T	3: 38,891,787	R1610W	probably damaging	Het
Filip1l	T	C	16: 57,570,294	V415A	probably damaging	Het
Garnl3	A	G	2: 33,006,899	L576P	probably damaging	Het
Gjd3	A	T	11: 98,982,400	V206E	possibly damaging	Het
Gpr135	A	T	12: 72,069,867	D375E	possibly damaging	Het
Gsdme	T	A	6: 50,245,945	Q130L	probably benign	Het
Hcls1	A	G	16: 36,957,340	M274V	probably null	Het
Kcnn4	T	C	7: 24,377,605	V193A	probably damaging	Het
Kctd16	T	C	18: 40,258,452	V31A	probably damaging	Het
Lamc2	C	T	1: 153,166,253	R45Q	possibly damaging	Het
Lrrc66	T	A	5: 73,615,517	I203F	possibly damaging	Het
Mark4	T	C	7: 19,448,639	D91G	probably damaging	Het
Mcm6	A	T	1: 128,335,728		probably benign	Het
Mecom	C	T	3: 29,961,000	S602N	probably benign	Het
Muc5ac	T	C	7: 141,798,984	V736A	possibly damaging	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,943,418		probably benign	Het
Olfr92	C	A	17: 37,111,757	C75F	probably benign	Het
Pdia5	A	T	16: 35,449,420	M173K	possibly damaging	Het
Pih1d2	T	C	9: 50,621,074	L144P	probably damaging	Het
Plch2	C	T	4: 154,992,567	E577K	possibly damaging	Het
Samd4b	T	C	7: 28,408,020	S275G	probably damaging	Het
Sap130	T	C	18: 31,689,442	V668A	probably benign	Het
Sema3c	T	A	5: 17,675,190		probably null	Het
Slc9a8	C	T	2: 167,471,387	R390*	probably null	Het
Vmn2r89	A	T	14: 51,456,108	N305I	probably benign	Het
Wdr33	T	C	18: 31,902,620	F1164L	unknown	Het
Zfp873	T	A	10: 82,060,733	C470S	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
R6380:Btnl1	UTSW	17	34379494	missense	probably benign	0.01
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'- GTCAGCAGCTCACAAGTAGAC -3'
(R):5'- CCCCATGGAATTACGTGTGAAG -3'

Sequencing Primer
(F):5'- GTAGACCACAACCTCATCACACTCTC -3'
(R):5'- CCCATGGAATTACGTGTGAAGTAAGG -3'

Posted On

2016-12-15