Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Btnl1'

525352

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6633 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34385331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 362 (N362S)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080254
AA Change: N362S

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: N362S

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,511,482		probably null	Het
Acot7	C	T	4: 152,178,259	P30L	probably benign	Het
Adam24	T	G	8: 40,680,487	D331E	probably benign	Het
Adamdec1	T	C	14: 68,573,152	D185G	probably benign	Het
Adgrg7	T	C	16: 56,730,286	I688V	probably benign	Het
Adgrv1	A	T	13: 81,568,643	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,381,467	I172V	probably benign	Het
Anapc4	C	T	5: 52,865,946	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,212,544	N179S	probably benign	Het
Arhgef40	C	T	14: 51,997,431	P1064S	probably damaging	Het
Ccdc80	T	C	16: 45,094,908	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,485,189	E180K	probably benign	Het
Cdh2	A	T	18: 16,640,548	N241K	probably benign	Het
Cdk8	C	A	5: 146,298,846	S261*	probably null	Het
Csf2rb2	T	C	15: 78,288,952	E236G	probably benign	Het
Dgcr8	A	T	16: 18,284,182	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,787	Y1346F	probably benign	Het
Dock6	A	G	9: 21,820,331	V1194A	probably benign	Het
Dock6	A	G	9: 21,821,503	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,683,996	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738		probably benign	Het
Fcer1a	C	G	1: 173,226,726		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,928,720		probably null	Het
Gm44511	T	A	6: 128,826,242	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,342,387	T19A	probably damaging	Het
Herc1	G	T	9: 66,439,252	E1967*	probably null	Het
Hic1	G	T	11: 75,169,498	H8N	unknown	Het
Irx4	G	T	13: 73,268,426	A314S	probably benign	Het
Jarid2	C	A	13: 44,884,877	H84N	probably damaging	Het
Klk1b27	A	T	7: 44,055,810	I134F	probably damaging	Het
Kprp	T	C	3: 92,825,293	Y150C	probably damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,469,074	V489A	probably benign	Het
Mrgpra6	A	G	7: 47,188,745	I235T	possibly damaging	Het
Naip1	A	G	13: 100,423,076	M1140T	probably benign	Het
Naip1	C	T	13: 100,423,085	R1137Q	probably benign	Het
Olfr1259	T	C	2: 89,943,366	I250V	probably benign	Het
Plcl2	A	G	17: 50,640,140	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,645,639	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,735,513	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,253,255		probably null	Het
Rag1	T	A	2: 101,642,710	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852	F53L	probably damaging	Het
Tango6	T	C	8: 106,718,005	V514A	probably benign	Het
Tex30	A	C	1: 44,087,924	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,657,659		probably null	Het
Tmem5	G	A	10: 122,097,053	R7W	probably damaging	Het
Tpcn1	A	G	5: 120,544,464	M493T	probably benign	Het
Tpx2	T	G	2: 152,867,354	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971	T112I	probably benign	Het
Wnt2b	T	C	3: 104,951,056	Y299C	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
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
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

Posted On

2018-06-22