Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02194:Btnl1'

283994

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02194

Quality Score

Status

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34379535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 42 (T42P)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080254
AA Change: T42P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: T42P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,591,355	Q230*	probably null	Het
Akap5	C	T	12: 76,328,033	P80S	probably damaging	Het
Akap6	T	A	12: 52,886,823	M366K	probably benign	Het
Ankef1	T	A	2: 136,550,509	D539E	probably benign	Het
Anxa11	A	G	14: 25,870,129	D39G	unknown	Het
Atp13a4	G	T	16: 29,456,629	H346N	probably damaging	Het
Cul3	T	A	1: 80,323,037	Y29F	probably benign	Het
Dcun1d4	A	G	5: 73,481,201		probably benign	Het
Det1	A	T	7: 78,840,164	V371E	probably benign	Het
Duoxa2	C	A	2: 122,301,849	A248D	possibly damaging	Het
E330021D16Rik	T	C	6: 136,401,058	Q258R	probably benign	Het
Ehbp1l1	A	T	19: 5,718,857	I806K	probably benign	Het
Fam76b	G	T	9: 13,832,978	G124W	probably damaging	Het
Fhl5	T	C	4: 25,211,341	E117G	probably benign	Het
Ighv15-2	T	C	12: 114,564,721	I70V	probably damaging	Het
Iqca	T	C	1: 90,045,663	T768A	probably benign	Het
Itih1	A	C	14: 30,930,365	D786E	probably benign	Het
Krt15	A	G	11: 100,132,013		probably benign	Het
Lgals9	T	A	11: 78,966,920		probably null	Het
Map3k4	G	T	17: 12,263,928	P634H	probably damaging	Het
Map3k4	G	T	17: 12,248,995	Q1051K	probably benign	Het
Mettl21e	T	C	1: 44,211,183	D21G	probably benign	Het
Mre11a	T	C	9: 14,815,209	S423P	possibly damaging	Het
Mzf1	T	A	7: 13,043,720	T665S	possibly damaging	Het
Olfr1216	T	C	2: 89,013,887	Y59C	probably damaging	Het
Olfr371	T	A	8: 85,230,633	I46N	possibly damaging	Het
Otx2	A	T	14: 48,661,393	V52D	possibly damaging	Het
Rnf157	C	T	11: 116,347,032		probably null	Het
Ssxa1	T	A	X: 21,121,155	I115N	unknown	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
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
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

2015-04-16