Mutagenetix > Incidental Mutations

Incidental Mutation 'R3809:Btnl6'

473952

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

040766-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34508228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 443 (T443A)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: T443A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: T443A

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,663,693	Y105C	possibly damaging	Het
Apol7e	A	T	15: 77,718,062	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057	N561K	probably benign	Het
Armc3	G	T	2: 19,300,665	A757S	probably damaging	Het
Baz2b	A	T	2: 59,968,896	S295T	probably benign	Het
Brd4	T	A	17: 32,211,270	K686N	possibly damaging	Het
Cacna1g	T	C	11: 94,416,096	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,403,239	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Cog1	G	T	11: 113,655,010	M370I	probably benign	Het
Col6a6	C	G	9: 105,780,692	V774L	probably damaging	Het
Csf1r	T	A	18: 61,112,764	S264R	probably benign	Het
Ctnna2	A	T	6: 76,954,757	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,323,729	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,826,751	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,524,320	F94S	probably damaging	Het
Hlf	T	C	11: 90,388,103	D45G	probably benign	Het
Hps3	A	T	3: 20,018,812	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,176,554	Y79H	probably damaging	Het
Ip6k1	T	A	9: 108,045,887	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,501,878	S29P	probably benign	Het
Itga11	A	G	9: 62,771,382	T944A	probably benign	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,409,138	R195G	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Neb	A	G	2: 52,256,789	I2821T	possibly damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr447	A	T	6: 42,912,337	K271N	probably damaging	Het
Olfr657	A	T	7: 104,636,333	I220L	possibly damaging	Het
Olfr918	C	T	9: 38,672,863	V207I	probably benign	Het
Papd7	A	G	13: 69,512,996	V51A	probably damaging	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Pfdn1	C	T	18: 36,451,092	G63D	probably damaging	Het
Pgghg	T	C	7: 140,945,295	F405L	probably damaging	Het
Plcd3	T	C	11: 103,101,383	M50V	probably null	Het
Plekha8	C	A	6: 54,619,349	S198R	probably benign	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rnf217	T	A	10: 31,503,808	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,441,813	N63K	possibly damaging	Het
Sik3	A	G	9: 46,219,486	D1240G	probably benign	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc2a3	A	G	6: 122,732,429	I337T	probably benign	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Tinag	C	T	9: 76,951,905	D474N	probably benign	Het
Ublcp1	A	G	11: 44,458,282	F242L	probably benign	Het
Ucp1	C	A	8: 83,290,641	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,095,382	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,481,795	D45G	probably damaging	Het
Zfp592	G	A	7: 81,024,532	A415T	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
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
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

Posted On

2017-04-14