Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03366:Btnl6'

420086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL03366

Quality Score

Status

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34508179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 459 (D459G)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably damaging
Transcript: ENSMUST00000075483
AA Change: D459G

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

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: D459G

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	T	A	7: 141,629,273	S793T	probably benign	Het
Cacna1g	C	A	11: 94,457,151	D704Y	probably damaging	Het
Cry2	A	G	2: 92,413,715	I371T	probably damaging	Het
Dock3	A	T	9: 107,005,433	F384I	probably benign	Het
Dpp4	T	C	2: 62,356,957		probably null	Het
Hecw1	G	T	13: 14,377,797	D72E	probably damaging	Het
Htt	T	A	5: 34,907,580	W3046R	probably damaging	Het
Hydin	A	T	8: 110,267,363	N10Y	unknown	Het
Ighv8-8	T	A	12: 115,294,140	T94S	probably benign	Het
Igkv4-58	A	G	6: 69,500,554	S20P	probably damaging	Het
Il4i1	T	C	7: 44,837,495		probably benign	Het
Kif13a	A	T	13: 46,764,623	S403T	probably benign	Het
Klhl40	T	C	9: 121,783,380	L616P	probably damaging	Het
Krt7	T	C	15: 101,427,610	L440P	possibly damaging	Het
Lpin1	A	G	12: 16,544,677	L755P	probably damaging	Het
Magee2	C	A	X: 104,855,528	E506*	probably null	Het
Mast3	G	A	8: 70,781,563	R143*	probably null	Het
Med12	T	A	X: 101,278,089	H459Q	probably benign	Het
Mmp3	T	C	9: 7,450,149	S294P	probably benign	Het
Muc6	T	C	7: 141,648,082	Y714C	probably damaging	Het
Myh2	T	C	11: 67,183,523	L662S	probably damaging	Het
Notch4	G	T	17: 34,572,568	C567F	probably damaging	Het
Nprl3	A	G	11: 32,250,256	I20T	probably damaging	Het
Olfr1123	A	T	2: 87,418,243	D65V	possibly damaging	Het
Pcdhb19	A	G	18: 37,498,612	T487A	possibly damaging	Het
Phlpp2	A	G	8: 109,940,835	E1332G	probably benign	Het
Pick1	T	C	15: 79,241,281	S113P	probably damaging	Het
Ptpru	T	C	4: 131,779,867	E1023G	probably damaging	Het
Rspry1	A	C	8: 94,650,334	I382L	probably benign	Het
Sf3b3	A	C	8: 110,839,954	V248G	probably damaging	Het
Smg5	T	A	3: 88,346,452	Y126*	probably null	Het
Spert	A	G	14: 75,583,389	S299P	probably benign	Het
Spin1	T	C	13: 51,127,937	V22A	probably benign	Het
Stab1	C	T	14: 31,150,263	R1189Q	possibly damaging	Het
Sytl5	A	G	X: 9,963,700	D538G	probably damaging	Het
Taar7e	T	A	10: 24,037,915	M101K	probably damaging	Het
Taf4	A	G	2: 179,935,054	V578A	probably damaging	Het
Tmem266	G	T	9: 55,437,233	C383F	probably benign	Het
Trim34a	T	C	7: 104,260,933		probably null	Het
Vmn2r104	T	C	17: 20,029,604	T802A	probably damaging	Het
Vmn2r32	A	C	7: 7,464,030	I833S	probably damaging	Het
Vmn2r85	T	C	10: 130,426,459	D137G	probably benign	Het
Vps13c	C	T	9: 67,946,026	S2467L	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
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
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
R9654:Btnl6	UTSW	17	34514166	missense	probably damaging	1.00
R9665:Btnl6	UTSW	17	34513661	missense	probably benign

Posted On

2016-08-02