Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02539:Btnl6'

297622

Institutional Source

Australian Phenomics Network (link to record)

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: 0.056) question?

Stock #

IGL02539

Quality Score

Status

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34508314 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 414 (N414S)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: N414S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: N414S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 24,786,213	Y479*	probably null	Het
Ccdc180	A	G	4: 45,921,005	N984D	probably damaging	Het
Cfc1	A	T	1: 34,537,122		probably benign	Het
Chrm1	G	A	19: 8,678,311	V127M	probably damaging	Het
Dicer1	A	G	12: 104,697,035	L1429P	probably damaging	Het
Erbb3	A	G	10: 128,584,305		probably null	Het
Evi5	T	C	5: 107,815,665	E348G	probably benign	Het
Fat2	G	A	11: 55,281,793	T2698I	probably damaging	Het
Gas2	A	G	7: 51,897,290	D63G	possibly damaging	Het
Gm28042	A	G	2: 120,035,221	D313G	probably damaging	Het
Hivep2	T	A	10: 14,131,878	S1407T	probably damaging	Het
Ibsp	T	A	5: 104,302,283	M19K	probably damaging	Het
Itih3	C	T	14: 30,912,664	D129N	probably benign	Het
Krtap4-8	A	T	11: 99,780,370		probably benign	Het
Mertk	A	G	2: 128,801,290	T870A	probably damaging	Het
Mtmr11	C	A	3: 96,164,991		probably benign	Het
Nbas	C	A	12: 13,272,703		probably benign	Het
Nlrp4b	A	G	7: 10,714,428	D186G	probably damaging	Het
Olfm3	A	G	3: 115,101,930	I154V	possibly damaging	Het
Olfr713	T	A	7: 107,036,434	I93N	probably damaging	Het
Pdk2	T	C	11: 95,032,495	K101R	probably benign	Het
Pds5a	C	T	5: 65,666,119	D110N	probably damaging	Het
Pex5	A	T	6: 124,403,224	D288E	probably benign	Het
Pitrm1	A	G	13: 6,568,756	D655G	probably benign	Het
Plcz1	T	C	6: 139,992,964	N554S	probably benign	Het
Plin4	T	C	17: 56,106,680	Q315R	probably damaging	Het
Plpp5	A	G	8: 25,724,188	H244R	probably benign	Het
Ppp1r3a	C	T	6: 14,718,459	V819I	probably benign	Het
Rap1b	T	A	10: 117,822,804	R41S	possibly damaging	Het
Rc3h2	T	A	2: 37,389,715	S501C	probably benign	Het
Sel1l2	G	T	2: 140,230,858	A619D	probably damaging	Het
Ska3	T	C	14: 57,820,511	D128G	possibly damaging	Het
Specc1l	A	T	10: 75,267,508	I889L	probably benign	Het
Ssxb5	T	A	X: 8,808,848	N130K	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tet1	T	C	10: 62,813,019	Q267R	possibly damaging	Het
Tlr8	T	A	X: 167,244,156	H566L	possibly damaging	Het
Tmem132d	T	A	5: 127,783,979	Q1026L	probably benign	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Trp53bp2	C	A	1: 182,448,691	P746T	probably damaging	Het
Uso1	A	T	5: 92,187,773	I547F	probably damaging	Het
Zfp687	A	C	3: 95,011,062	N466K	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
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
R6385:Btnl6	UTSW	17	34508369	missense	probably benign	0.01

Posted On

2015-04-16