Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Btnl1'

8345

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

038316-MU

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0021 (G1)

Quality Score

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: 84.2%
3x: 78.9%
10x: 65.7%
20x: 50.3%

Validation Efficiency

96% (92/96)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,677,196		noncoding transcript	Het
5830411N06Rik	G	A	7: 140,296,397	R594H	probably benign	Het
Abcc5	T	A	16: 20,378,661	K647*	probably null	Het
Aplp1	A	G	7: 30,435,816		probably benign	Het
AU019823	A	C	9: 50,610,425	D65E	probably damaging	Het
Baiap3	T	C	17: 25,243,669	E1105G	probably damaging	Het
Brinp3	T	G	1: 146,901,451	S545R	probably benign	Het
Ccr6	G	A	17: 8,256,766	V268M	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
D630045J12Rik	G	A	6: 38,183,967	Q1081*	probably null	Het
Dhx15	T	C	5: 52,157,488	T626A	probably damaging	Het
Dhx36	T	C	3: 62,477,595	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,969,979	I2855T	probably benign	Het
Fsip2	T	A	2: 82,999,857		probably benign	Het
Galnt11	A	T	5: 25,248,857	D27V	probably damaging	Het
Gm4981	C	A	10: 58,235,563	E276D	probably benign	Het
Gm5134	T	A	10: 75,993,884	C335S	probably damaging	Het
Hdhd2	A	T	18: 76,970,615	K227N	probably damaging	Het
Itgb4	A	T	11: 115,979,627	D94V	possibly damaging	Het
Krtcap3	A	G	5: 31,252,959	H227R	probably benign	Het
Macf1	T	C	4: 123,475,577	H232R	probably damaging	Het
Map2k4	A	G	11: 65,712,284	I174T	probably damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mcm9	G	A	10: 53,537,901	T1099I	possibly damaging	Het
Nqo2	T	C	13: 33,981,507	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,064,926		probably benign	Het
Phf7	C	T	14: 31,238,486		probably benign	Het
Plac8	T	A	5: 100,556,568	T88S	probably benign	Het
Prss52	T	G	14: 64,104,408	V16G	probably benign	Het
Psmb9	G	A	17: 34,184,303	A80V	probably benign	Het
Ptprk	T	A	10: 28,592,895	V1425E	probably damaging	Het
Scn2a	T	C	2: 65,670,515	V7A	possibly damaging	Het
Serpini1	T	C	3: 75,619,313	Y291H	probably damaging	Het
Setd6	A	G	8: 95,716,665	K19E	probably damaging	Het
Siah2	T	C	3: 58,676,292	H191R	probably benign	Het
Slc27a2	T	C	2: 126,567,886		probably benign	Het
Tbc1d10a	T	C	11: 4,213,680	C277R	probably damaging	Het
Trim55	A	C	3: 19,644,702	M32L	probably benign	Het
Unc5b	T	C	10: 60,778,919	T200A	probably benign	Het
Wrap53	A	T	11: 69,563,886	M219K	probably damaging	Het
Zfp790	G	A	7: 29,825,688		probably benign	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
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
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

Posted On

2012-11-27