Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02127:Btnl6'

280896

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: 0.077) question?

Stock #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34514043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 282 (Q282R)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: Q282R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: Q282R

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,897,880	M661K	probably benign	Het
Arpin	G	A	7: 79,928,193	R163W	probably benign	Het
Atm	C	A	9: 53,487,983	D1573Y	probably damaging	Het
Avil	A	G	10: 127,011,826	N540S	probably benign	Het
Cacna2d3	T	C	14: 29,063,875		probably benign	Het
Cd300ld4	T	C	11: 115,022,719	N170S	probably benign	Het
Cgnl1	T	A	9: 71,725,853	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,799,064		probably benign	Het
Col27a1	A	T	4: 63,225,142	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,851,057	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,791,106	E349G	probably benign	Het
Dnah1	T	C	14: 31,304,928	E713G	probably benign	Het
Dnah7b	A	T	1: 46,139,875	T903S	probably benign	Het
Enthd1	T	C	15: 80,452,742	D497G	probably damaging	Het
Grk4	C	T	5: 34,710,186	T165I	probably benign	Het
Hmcn1	G	A	1: 150,722,607	S1648L	probably benign	Het
Ints11	A	G	4: 155,886,863	Y278C	probably damaging	Het
Kcnu1	T	C	8: 25,892,062	L480P	probably damaging	Het
Kif1bp	C	T	10: 62,578,349	R10H	probably benign	Het
Kif5c	G	A	2: 49,701,110		probably null	Het
Klhl35	T	C	7: 99,471,681		probably benign	Het
Lemd3	A	T	10: 120,926,028	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,504,539	T20I	probably benign	Het
Mab21l1	C	T	3: 55,783,595	A201V	probably benign	Het
Mab21l2	T	C	3: 86,546,817	D292G	possibly damaging	Het
Map3k21	T	C	8: 125,942,147	L824P	probably benign	Het
Myo5a	T	C	9: 75,212,981	V1687A	probably benign	Het
Myo5c	G	T	9: 75,300,902	W1639C	probably damaging	Het
Nfya	G	T	17: 48,393,255		probably benign	Het
Olfr1249	A	G	2: 89,630,754	I48T	probably damaging	Het
Papolg	A	G	11: 23,870,870		probably benign	Het
Pcdh8	G	A	14: 79,769,246	R626C	probably damaging	Het
Pclo	T	C	5: 14,765,145		probably benign	Het
Pogz	T	C	3: 94,874,703		probably benign	Het
Polg	G	A	7: 79,458,167		probably benign	Het
Scn9a	A	T	2: 66,494,826	I1317K	probably damaging	Het
Scn9a	A	G	2: 66,547,135	V401A	probably damaging	Het
St7	T	A	6: 17,844,969		probably benign	Het
Tdo2	C	T	3: 81,958,925	V344M	probably damaging	Het
Trmt1	T	C	8: 84,697,471	V400A	probably damaging	Het
Trrap	A	G	5: 144,816,433	N1856S	probably benign	Het
Ube3a	G	A	7: 59,276,041	G210D	probably benign	Het
Ubqln5	A	G	7: 104,129,482	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,711,958	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,555,541	E172G	probably damaging	Het

Other mutations in Btnl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16