Mutagenetix > Incidental Mutations

Incidental Mutation 'R6046:Btnl6'

483326

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

044214-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34508397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 386 (R386S)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably damaging
Transcript: ENSMUST00000075483
AA Change: R386S

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

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: R386S

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

Meta Mutation Damage Score

0.8623

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	T	C	7: 28,904,619	I406V	probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Ank1	T	A	8: 23,116,098	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 65,032,084		probably null	Het
Atp9a	C	A	2: 168,634,870	V1000L	probably benign	Het
Bnip3	A	G	7: 138,909,304		probably benign	Het
Btbd11	T	C	10: 85,388,083	V252A	unknown	Het
Calcrl	A	G	2: 84,375,314	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,136,942	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,837,151	T1960A	probably benign	Het
Cfb	T	A	17: 34,862,102		probably null	Het
Chd8	A	G	14: 52,221,071	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102		probably null	Het
Crhr2	T	A	6: 55,091,292	T428S	probably damaging	Het
Crybg2	A	T	4: 134,092,077	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,039,141	V46E	probably benign	Het
Cxcr1	T	C	1: 74,192,281	E194G	probably damaging	Het
Dopey1	A	T	9: 86,515,343	H900L	probably damaging	Het
Dpyd	T	A	3: 119,431,575	M999K	probably benign	Het
Gbp3	A	C	3: 142,567,799	D369A	possibly damaging	Het
Glmp	A	G	3: 88,325,188	E36G	probably damaging	Het
Gm10113	T	C	13: 46,177,443		noncoding transcript	Het
Gm6486	T	A	5: 3,070,846		noncoding transcript	Het
Gm973	T	G	1: 59,632,350	L891R	unknown	Het
Heatr3	C	T	8: 88,139,954	T8M	probably damaging	Het
Herc1	A	G	9: 66,445,549	M2106V	probably damaging	Het
Hfm1	A	T	5: 106,898,643		probably null	Het
Hspa14	A	G	2: 3,489,764	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,775,749	T535K	possibly damaging	Het
Ift140	A	G	17: 25,055,589	D745G	probably benign	Het
Ift27	A	T	15: 78,173,781	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,846,563	W182*	probably null	Het
Itga3	A	G	11: 95,062,715	I236T	probably benign	Het
Kctd15	T	A	7: 34,650,122	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,079,253	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,321,703	L234H	probably damaging	Het
Lrp2	T	A	2: 69,506,754	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,568,527	D429N	probably benign	Het
Mettl3	A	T	14: 52,298,786	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,696,771	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,951,281	I1444T	probably benign	Het
Muc15	T	A	2: 110,731,441	L74*	probably null	Het
Olfm2	T	A	9: 20,668,528	Y317F	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,334	S124N	probably benign	Het
Olfr474	T	A	7: 107,954,794	I51N	probably benign	Het
Olfr622	C	T	7: 103,639,679	V154M	probably benign	Het
Pclo	A	T	5: 14,713,288	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,622,139	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,896,792	Q449R	probably damaging	Het
Psg28	T	C	7: 18,426,380	E297G	probably damaging	Het
Qrich2	A	T	11: 116,447,006		probably benign	Het
Rgs9	A	G	11: 109,239,560	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,916,821	D345G	probably damaging	Het
Rtn4	T	A	11: 29,708,023	F726I	probably damaging	Het
Sart3	A	T	5: 113,755,446	I330N	probably damaging	Het
Scn5a	T	C	9: 119,562,374	D84G	probably damaging	Het
Sema4a	T	C	3: 88,440,701	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,088,942	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,996,645	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471	V656A	probably benign	Het
Smok2a	T	G	17: 13,226,134	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,185,031	I344V	probably benign	Het
Tll1	A	T	8: 64,053,891	Y605*	probably null	Het
Trim75	G	A	8: 64,982,883	P305L	probably damaging	Het
Unc13c	T	C	9: 73,930,884	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,822,917	I822N	probably damaging	Het
Wasf3	T	G	5: 146,470,356	D495E	unknown	Het
Wdhd1	T	A	14: 47,273,210	K119*	probably null	Het
Wnt2b	T	A	3: 104,951,023	D310V	probably damaging	Het
Zfat	G	T	15: 68,180,777	D389E	probably damaging	Het
Zfp282	G	A	6: 47,880,168	V112M	probably damaging	Het
Zfp617	A	T	8: 71,933,413	K529I	probably damaging	Het
Zfp866	A	T	8: 69,765,723	C416S	probably damaging	Het
Zfp991	G	A	4: 147,179,765	G533D	probably benign	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
R4462:Btnl6	UTSW	17	34508057	missense	probably damaging	1.00
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
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'- CGGAGCTTGCCTGACAGATAATG -3'
(R):5'- GCAGCTGTAGCCTTTTCTGG -3'

Sequencing Primer
(F):5'- GCTTGCCTGACAGATAATGAAGTCC -3'
(R):5'- TACTGGACAGGACCACTTGTG -3'

Posted On

2017-07-14