Mutagenetix > Incidental Mutations

Incidental Mutation 'R3441:Btnl6'

267398

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

040659-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34508318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 413 (K413E)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: K413E

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: K413E

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

Meta Mutation Damage Score

0.2802

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 24,680,743		probably benign	Het
Ap5b1	A	G	19: 5,569,983	H477R	probably benign	Het
Asz1	A	C	6: 18,108,406	S68A	probably benign	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Cav3	G	A	6: 112,472,441	C140Y	possibly damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Clrn3	A	C	7: 135,514,125	Y165*	probably null	Het
Cp	A	T	3: 19,974,957	M533L	probably benign	Het
Cyba	C	T	8: 122,425,064	W103*	probably null	Het
Epha4	G	T	1: 77,426,696	N95K	possibly damaging	Het
Fsip2	A	G	2: 82,986,727	N4268S	probably benign	Het
Glb1l2	C	T	9: 26,780,742	A74T	probably damaging	Het
Gtf3c6	T	A	10: 40,251,173	E123V	probably null	Het
Htr3b	T	C	9: 48,945,515	D221G	probably benign	Het
Hyal6	C	T	6: 24,734,593	A175V	probably benign	Het
Kif1a	C	T	1: 93,036,853	D1334N	possibly damaging	Het
Krtap24-1	T	C	16: 88,611,825	T138A	probably damaging	Het
Maats1	T	C	16: 38,333,806	M126V	probably benign	Het
Mrc2	A	T	11: 105,347,716	T1230S	possibly damaging	Het
Mx1	T	A	16: 97,456,231	I109F	probably damaging	Het
Nav3	A	G	10: 109,704,928	F1947S	probably benign	Het
Olfr1112	A	G	2: 87,191,818	I44V	probably benign	Het
Olfr420	A	T	1: 174,159,180	M136L	probably benign	Het
Plxnc1	G	A	10: 94,871,010	T555I	probably benign	Het
Rab21	CCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCC	10: 115,315,309		probably benign	Het
Rag2	T	A	2: 101,630,300	F318L	probably damaging	Het
Scgb2b24	G	T	7: 33,738,600	F27L	probably damaging	Het
Tchh	A	T	3: 93,445,107	D618V	unknown	Het
Teddm1b	A	G	1: 153,875,261	E272G	probably benign	Het
Tenm4	A	T	7: 96,553,516	M88L	probably benign	Het
Tfpi2	A	T	6: 3,965,504	Y103N	probably benign	Het
Tmem98	A	G	11: 80,814,299	N71S	probably damaging	Het
Vmn1r181	A	G	7: 23,984,883	I258V	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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGAGAAGGAAGCCTTAG -3'
(R):5'- CTTGCCATCTCCCAGGATAG -3'

Sequencing Primer
(F):5'- CATGTCACTCATGTTATAGAAGGAG -3'
(R):5'- ATCTCCCAGGATAGGCTGACTG -3'

Posted On

2015-02-18