Mutagenetix > Incidental Mutations

Incidental Mutation 'R5422:Btnl6'

426673

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

042846-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34514107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 261 (G261R)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075483
AA Change: G261R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: G261R

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 113,698,974	S1219G	probably benign	Het
Adgrg5	T	A	8: 94,933,952	I73N	probably damaging	Het
Agmat	C	A	4: 141,755,833	H193N	probably damaging	Het
Ambn	T	C	5: 88,464,511		probably null	Het
Atp8b5	T	A	4: 43,366,644	C803S	probably benign	Het
BC005561	T	C	5: 104,519,646	I678T	probably damaging	Het
Btaf1	A	T	19: 36,951,107	R109S	probably benign	Het
Cd163l1	A	T	7: 140,224,155	H422L	probably benign	Het
Clk3	A	G	9: 57,765,438	V27A	probably benign	Het
Clu	A	G	14: 65,975,602	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,352,773	F43L	probably benign	Het
Elf3	C	T	1: 135,255,040	E316K	probably damaging	Het
Epha5	A	T	5: 84,331,490	D218E	probably damaging	Het
Ereg	T	C	5: 91,074,807		probably null	Het
Ewsr1	A	G	11: 5,080,668		probably benign	Het
Fat4	A	G	3: 38,887,245	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,375,810	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,728,108		probably null	Het
Fn3k	C	A	11: 121,450,122	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,982,228	I2964V	probably benign	Het
Gbx1	C	T	5: 24,504,669	V393I	possibly damaging	Het
Gch1	C	T	14: 47,157,449	A187T	probably damaging	Het
Ghdc	C	A	11: 100,769,194	K242N	probably benign	Het
Ghrhr	A	G	6: 55,388,203	H394R	probably benign	Het
Gje1	G	A	10: 14,716,684	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,465,228	S236R	probably benign	Het
Kcnj5	A	G	9: 32,317,705	Y66H	probably benign	Het
Kif15	T	A	9: 122,984,889		probably null	Het
Magi3	C	T	3: 104,051,368	C467Y	probably damaging	Het
Map7	G	T	10: 20,266,766	V303F	probably damaging	Het
Mapk11	A	G	15: 89,146,285	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,531,722		probably null	Het
Myh7b	A	C	2: 155,631,034	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,515,365	I328N	probably damaging	Het
Nprl2	C	A	9: 107,543,597	R144S	probably benign	Het
Ogfr	G	T	2: 180,595,274	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,595,275	D551V	probably benign	Het
Olfr250	A	T	9: 38,367,974	T143S	probably benign	Het
Olfr524	A	T	7: 140,202,392	V126E	probably damaging	Het
Parp14	T	C	16: 35,866,175	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,479,867	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,677,621	G303S	probably benign	Het
Plcl1	A	T	1: 55,697,384	Y628F	probably benign	Het
Ptpn9	T	A	9: 57,033,157	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,419,626	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,088,134	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,181,174	R218L	possibly damaging	Het
Serpine2	C	A	1: 79,816,875	V114L	probably benign	Het
Serpine2	T	C	1: 79,821,489	Y16C	probably benign	Het
Sgms1	G	T	19: 32,159,832	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,848,868	M1K	probably null	Het
Tcf12	A	T	9: 71,869,038	H403Q	probably damaging	Het
Thsd7b	T	C	1: 129,921,334	S928P	probably benign	Het
Tjp1	A	T	7: 65,302,967	F1540I	probably damaging	Het
Tph2	T	A	10: 115,079,764	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676	I2112V	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zfp335	T	C	2: 164,907,730	K249R	probably damaging	Het
Zfp54	C	A	17: 21,434,526	S427R	probably benign	Het
Zfp607b	A	G	7: 27,702,388	T90A	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
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
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'- TGACCTAAAGGACTCCAGTTGTC -3'
(R):5'- AAGCCATGGCCATGTTCCTC -3'

Sequencing Primer
(F):5'- GAACACTGGACCCTCCTCG -3'
(R):5'- CATGTTCCTCCCAGGTGAGTG -3'

Posted On

2016-09-01