Mutagenetix > Incidental Mutations

Incidental Mutation 'R4462:Btnl6'

330201

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34508057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 500 (S500P)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075483]

AlphaFold

A2CG22

Predicted Effect

probably damaging
Transcript: ENSMUST00000075483
AA Change: S500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: S500P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	145	2.06e-5	SMART
SCOP:d1c5ch2	151	222	1e-2	SMART
Blast:IG_like	152	228	2e-23	BLAST
transmembrane domain	252	271	N/A	INTRINSIC
low complexity region	312	326	N/A	INTRINSIC
SPRY	384	509	1.23e-19	SMART
low complexity region	510	539	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173164

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	T	6: 55,480,099	I272F	possibly damaging	Het
Adgrl3	C	T	5: 81,688,510	A705V	probably damaging	Het
Arhgef12	A	T	9: 42,981,982	V975E	probably damaging	Het
Bahd1	C	T	2: 118,916,406	P169S	probably damaging	Het
Ccdc39	C	T	3: 33,814,668	R798Q	probably damaging	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Cdon	T	C	9: 35,457,580	V34A	probably damaging	Het
Defa17	A	G	8: 21,656,537	R60G	probably benign	Het
Egr2	GAA	GA	10: 67,539,903		probably null	Het
Fuca2	T	C	10: 13,503,235	V41A	probably damaging	Het
Ggt6	C	A	11: 72,437,828	H385N	possibly damaging	Het
Hgsnat	G	A	8: 25,954,636	T428I	probably damaging	Het
Nefh	A	G	11: 4,941,015	S535P	probably damaging	Het
Olfr1371	T	A	11: 52,213,974	N5I	probably damaging	Het
Olfr905	T	A	9: 38,473,064	F106I	probably benign	Het
Pkhd1l1	T	C	15: 44,581,804	F3691L	probably damaging	Het
Polr2a	T	C	11: 69,746,403	D282G	probably damaging	Het
Ranbp17	T	C	11: 33,217,421		probably null	Het
Slc13a2	T	C	11: 78,404,387	T187A	probably benign	Het
Slco3a1	A	C	7: 74,554,563	S10A	probably benign	Het
Snph	A	T	2: 151,594,115	S229T	probably damaging	Het
Trim38	A	G	13: 23,791,452	Y458C	probably null	Het
Ubr4	A	G	4: 139,418,502	M1537V	possibly damaging	Het

Other mutations in Btnl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Btnl6	APN	17	34514043	missense	probably benign	0.00
IGL02501:Btnl6	APN	17	34515674	missense	possibly damaging	0.82
IGL02539:Btnl6	APN	17	34508314	missense	probably benign	0.00
IGL02629:Btnl6	APN	17	34514468	missense	probably damaging	1.00
IGL02724:Btnl6	APN	17	34508175	nonsense	probably null
IGL03366:Btnl6	APN	17	34508179	missense	probably damaging	1.00
R0013:Btnl6	UTSW	17	34515531	nonsense	probably null
R0025:Btnl6	UTSW	17	34514299	missense	probably benign	0.02
R0144:Btnl6	UTSW	17	34514020	missense	probably benign	0.29
R0255:Btnl6	UTSW	17	34508503	missense	probably benign	0.01
R1474:Btnl6	UTSW	17	34513646	missense	probably damaging	1.00
R1757:Btnl6	UTSW	17	34514088	missense	probably benign	0.09
R1838:Btnl6	UTSW	17	34515542	missense	probably damaging	0.99
R2149:Btnl6	UTSW	17	34514347	missense	possibly damaging	0.47
R2994:Btnl6	UTSW	17	34515524	missense	possibly damaging	0.82
R3441:Btnl6	UTSW	17	34508318	missense	probably benign	0.06
R3809:Btnl6	UTSW	17	34508228	missense	probably benign	0.00
R3936:Btnl6	UTSW	17	34517342	missense	probably benign
R4604:Btnl6	UTSW	17	34508461	missense	possibly damaging	0.91
R4618:Btnl6	UTSW	17	34514146	missense	probably damaging	0.98
R4832:Btnl6	UTSW	17	34513992	missense	possibly damaging	0.80
R5369:Btnl6	UTSW	17	34507985	nonsense	probably null
R5422:Btnl6	UTSW	17	34514107	missense	possibly damaging	0.93
R6046:Btnl6	UTSW	17	34508397	missense	probably damaging	1.00
R6170:Btnl6	UTSW	17	34515506	missense	probably damaging	0.99
R6385:Btnl6	UTSW	17	34508369	missense	probably benign	0.01
R8213:Btnl6	UTSW	17	34508883	splice site	probably null
R8676:Btnl6	UTSW	17	34508069	missense	probably benign	0.00
R8895:Btnl6	UTSW	17	34515417	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTCTTCCCCTGGGATAGAGTC -3'
(R):5'- GGCCTATATTGACTCTGGGAGG -3'

Sequencing Primer
(F):5'- GTCCACAACACAAGAGCCTGG -3'
(R):5'- GGACTTCATTATCTGTCAGGCAAGC -3'

Posted On

2015-07-21