Mutagenetix > Incidental Mutations

Incidental Mutation 'R6385:Btnl6'

515578

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34508369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 396 (I396L)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: I396L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: I396L

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,279	M910L	probably benign	Het
Abca9	T	A	11: 110,134,254	I988F	probably damaging	Het
Adgra2	A	T	8: 27,118,850	S92C	probably damaging	Het
Apon	A	G	10: 128,254,354		probably benign	Het
Arap3	G	A	18: 37,997,031	R26*	probably null	Het
BC049730	A	T	7: 24,714,110	I184F	probably damaging	Het
Catsper3	G	T	13: 55,786,426	Q53H	probably damaging	Het
Cep164	T	G	9: 45,779,783	E372A	probably damaging	Het
Cln3	A	T	7: 126,575,035	C339S	probably null	Het
Cntnap2	G	A	6: 46,856,180	D776N	probably benign	Het
Cttnbp2nl	A	G	3: 105,005,636	F311L	probably benign	Het
Daam2	C	T	17: 49,463,936	A918T	probably damaging	Het
Dst	T	C	1: 34,307,468	V7353A	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fanca	A	T	8: 123,305,867		probably null	Het
Filip1	G	T	9: 79,820,531	Q269K	possibly damaging	Het
Fut9	G	A	4: 25,620,328	S162L	probably damaging	Het
Gtf2ird1	A	T	5: 134,404,690	H294Q	probably benign	Het
Gucy1a1	A	G	3: 82,109,006	I225T	probably benign	Het
H2-DMb1	T	A	17: 34,155,602	N75K	probably benign	Het
Helz2	C	T	2: 181,233,467	E1745K	probably damaging	Het
Hes1	A	G	16: 30,065,606	M6V	possibly damaging	Het
Hydin	A	T	8: 110,312,224	H198L	possibly damaging	Het
Iars	T	C	13: 49,701,895	L266P	probably damaging	Het
Ifna11	A	G	4: 88,820,149	E64G	probably damaging	Het
Inpp5d	T	A	1: 87,699,675	L566Q	probably damaging	Het
Kcnh3	T	C	15: 99,227,941	S160P	probably benign	Het
Lama5	T	C	2: 180,196,533	T850A	probably damaging	Het
Lgi3	A	G	14: 70,531,170	T36A	possibly damaging	Het
Lrp2	T	C	2: 69,495,784	S1810G	probably benign	Het
Msln	T	A	17: 25,751,141	D280V	probably benign	Het
Myh4	A	T	11: 67,255,837	I1513F	probably damaging	Het
Ncf2	A	T	1: 152,830,422	M262L	probably benign	Het
Neb	G	T	2: 52,185,299	A218D	probably damaging	Het
Notch4	C	A	17: 34,573,814	Q640K	probably null	Het
Olfr1303	T	C	2: 111,814,619	I36V	probably benign	Het
Olfr231	A	T	1: 174,117,296	F240Y	probably damaging	Het
Olfr603	A	T	7: 103,383,897	V35D	possibly damaging	Het
Pear1	G	T	3: 87,754,199	H562N	probably benign	Het
Poli	C	A	18: 70,530,001		probably benign	Het
Ppp3r2	A	G	4: 49,681,767	I61T	possibly damaging	Het
Rfc5	T	C	5: 117,385,398	T112A	probably benign	Het
Serhl	A	G	15: 83,101,622	T5A	probably benign	Het
Shank3	T	C	15: 89,521,375		probably null	Het
Slc22a28	A	G	19: 8,101,480	S282P	probably damaging	Het
Slc2a12	C	T	10: 22,694,030	T540I	possibly damaging	Het
Slurp2	T	C	15: 74,746,675	M1V	probably null	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tln2	C	T	9: 67,278,129	A700T	probably benign	Het
Ttn	C	T	2: 76,917,848	V4286I	probably benign	Het
Ube2u	A	G	4: 100,532,144	K214R	possibly damaging	Het
Vmn1r46	A	G	6: 89,976,445	H92R	probably damaging	Het
Wdr90	A	G	17: 25,848,530	I1486T	probably damaging	Het
Zc3h11a	A	T	1: 133,637,454	S236T	possibly damaging	Het
Zfp318	A	G	17: 46,411,006	K1312E	probably damaging	Het
Zfp930	A	G	8: 69,228,631	Y326C	probably damaging	Het
Zfp972	G	T	2: 177,921,795	D8E	probably 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
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
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'- AAGGAGATGTCACCTTCAGTG -3'
(R):5'- ACTGGACAGGACCACTTGTG -3'

Sequencing Primer
(F):5'- ACCCCCACACTCTTCGGAG -3'
(R):5'- GATTGGTAACTCTCTCTACAGGGAC -3'

Posted On

2018-05-04