Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Btnl1'

152916

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 #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34385685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 480 (I480T)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080254
AA Change: I480T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: I480T

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	G	T	8: 3,364,697	C25F	probably benign	Het
Abcc6	A	T	7: 45,996,814	N750K	probably benign	Het
Ackr2	T	C	9: 121,909,500	C314R	probably benign	Het
Adar	C	T	3: 89,745,440	Q210*	probably null	Het
Aifm1	A	G	X: 48,480,276		probably benign	Het
Aldoa	G	T	7: 126,796,703	D198E	probably damaging	Het
Ampd1	T	A	3: 103,094,885		probably benign	Het
Capn9	T	C	8: 124,591,769	S125P	probably benign	Het
Cd40lg	T	A	X: 57,212,232	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,309,823		probably null	Het
Cdh10	T	C	15: 18,986,769	L362P	probably benign	Het
Dhx16	A	G	17: 35,888,108	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,906,000	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,485,069	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,552,604	V568A	probably damaging	Het
Faf2	T	C	13: 54,641,498		probably null	Het
Fbrsl1	C	T	5: 110,381,640	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,444,291	V282A	probably damaging	Het
Fxr2	C	T	11: 69,652,622	L650F	possibly damaging	Het
Gabrq	A	G	X: 72,836,842	M314V	probably benign	Het
Gnas	T	A	2: 174,298,332	Y157*	probably null	Het
Gtf2i	T	C	5: 134,286,893	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,663,415	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 78,824,640	Q345*	probably null	Het
Hydin	T	C	8: 110,592,776	V4437A	possibly damaging	Het
Idi2	T	A	13: 8,958,542	L112Q	probably damaging	Het
Ift80	C	T	3: 68,962,296	V221M	probably benign	Het
Il16	A	G	7: 83,652,299	F205S	probably benign	Het
Irf1	T	A	11: 53,774,451	M218K	probably benign	Het
Itga8	T	C	2: 12,265,333	N114S	probably benign	Het
Itgae	T	C	11: 73,111,759	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,934		probably null	Het
Krt78	C	A	15: 101,950,898	R288L	probably benign	Het
Lars2	A	T	9: 123,453,248	L632F	probably damaging	Het
Mpdz	T	C	4: 81,317,682	D1220G	probably damaging	Het
Msl1	C	T	11: 98,805,419	T597I	probably damaging	Het
Mtor	T	C	4: 148,530,613		probably benign	Het
Myo1b	T	C	1: 51,782,020	T435A	probably damaging	Het
Neb	A	G	2: 52,225,667	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,849,765	F326L	probably benign	Het
Olfr532	T	C	7: 140,419,668	Y35C	probably damaging	Het
Olfr705	A	G	7: 106,714,334	S116P	possibly damaging	Het
Pak7	T	A	2: 136,087,413	R617W	probably damaging	Het
Peak1	C	A	9: 56,259,202	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,292,828		probably benign	Het
Pmm1	C	T	15: 81,960,786	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,580,434	V454M	probably benign	Het
Ptprf	C	T	4: 118,248,898		probably null	Het
Pygm	G	A	19: 6,392,994		probably null	Het
Rimbp2	T	A	5: 128,797,848		probably benign	Het
Rps6ka5	A	T	12: 100,575,633		probably null	Het
Scarb2	A	G	5: 92,460,803	V188A	probably benign	Het
Sfrp1	T	A	8: 23,412,338		probably benign	Het
Siglec15	T	A	18: 78,043,605		probably benign	Het
Smgc	A	G	15: 91,854,593	I485V	probably benign	Het
Tas2r124	A	G	6: 132,754,835	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879	G185W	probably damaging	Het
Ttll4	A	G	1: 74,688,193	N798S	possibly damaging	Het
Ttn	G	T	2: 76,789,552	T15924N	probably damaging	Het
Utrn	A	T	10: 12,711,557	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 22,958,311	Y690H	probably benign	Het
Vmn2r51	T	C	7: 10,100,227	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,948,397	T14A	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
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
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

2014-02-04