Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03275:Btnl1'

415381

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 #

IGL03275

Quality Score

Status

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34385512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 422 (K422N)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080254
AA Change: K422N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: K422N

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	A	8: 72,445,124	L125H	probably damaging	Het
2210408I21Rik	A	T	13: 77,298,555	T816S	possibly damaging	Het
Aspm	T	A	1: 139,487,295	I1438N	probably damaging	Het
BC005561	T	A	5: 104,518,277	C222S	probably benign	Het
Bicdl1	A	G	5: 115,731,160	Y134H	probably damaging	Het
Ccdc158	T	A	5: 92,629,632	I941F	probably benign	Het
Crnn	A	G	3: 93,149,418	K504E	possibly damaging	Het
Csmd1	T	A	8: 16,157,092	I1308L	probably benign	Het
Cwf19l1	T	C	19: 44,123,257	M246V	probably benign	Het
Desi1	T	A	15: 82,003,762	I36F	probably damaging	Het
Foxf2	A	G	13: 31,626,531	N151S	probably damaging	Het
Fryl	A	G	5: 73,148,033	V35A	possibly damaging	Het
Gabrg3	T	C	7: 56,773,347	Y201C	probably damaging	Het
Gm11487	T	A	4: 73,403,416	R127S	possibly damaging	Het
Gm813	T	C	16: 58,615,756	Y68C	probably damaging	Het
Grb10	T	A	11: 11,933,591	T500S	possibly damaging	Het
Hsdl2	A	G	4: 59,617,747	*371W	probably null	Het
Irf7	C	A	7: 141,265,146	R49L	probably damaging	Het
Itpr2	T	C	6: 146,158,877		probably benign	Het
Jam3	T	C	9: 27,101,249	T201A	probably damaging	Het
Mst1	T	C	9: 108,084,388	S606P	possibly damaging	Het
Olfr483	T	A	7: 108,103,608	C100S	probably damaging	Het
Otog	A	G	7: 46,306,230	E2800G	probably damaging	Het
Ptpro	C	T	6: 137,450,006	P292S	probably damaging	Het
Rab10	A	T	12: 3,256,959	Y79N	probably damaging	Het
Rc3h1	T	C	1: 160,959,555		probably null	Het
Slc2a3	C	T	6: 122,736,742		probably null	Het
Sptbn2	T	C	19: 4,732,661	Y542H	possibly damaging	Het
Tas2r110	T	C	6: 132,868,098	F31L	probably damaging	Het
Ttn	A	G	2: 76,945,107	S1864P	probably damaging	Het
Ttn	A	G	2: 76,717,344	S32161P	probably damaging	Het
Vmn1r228	A	G	17: 20,776,842	I138T	probably damaging	Het
Vmn2r10	T	A	5: 109,003,377	T124S	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
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

2016-08-02