Mutagenetix > Incidental Mutations

Incidental Mutation 'R3936:Btnl6'

307191

Institutional Source

Beutler Lab

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 #

R3936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34517342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 4 (H4L)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: H4L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: H4L

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: ENSMUST00000121408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173164

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	C	T	12: 53,140,444	T1547M	possibly damaging	Het
Alk	T	A	17: 72,205,954	I337F	probably damaging	Het
Ank3	A	T	10: 69,879,989	K491*	probably null	Het
Arx	T	A	X: 93,297,369	L554Q	probably damaging	Het
Axdnd1	T	C	1: 156,331,639	N203S	probably benign	Het
Baz2b	A	G	2: 59,912,761	V1622A	possibly damaging	Het
Dync2h1	C	A	9: 7,001,482	L3835F	probably damaging	Het
Fcgbp	T	C	7: 28,075,399	F133L	probably benign	Het
Fnip1	A	G	11: 54,480,239		probably null	Het
G6pc	A	G	11: 101,374,603	I154V	probably benign	Het
Golgb1	G	T	16: 36,914,056	E1222*	probably null	Het
Gpr85	A	G	6: 13,836,045	F287L	probably benign	Het
Gzmk	A	T	13: 113,173,025	S164T	probably damaging	Het
Il22ra2	T	A	10: 19,631,708	S156R	probably benign	Het
Kansl1	A	T	11: 104,343,543	D712E	possibly damaging	Het
Mc3r	T	A	2: 172,249,296	I146N	probably damaging	Het
Mcm2	G	A	6: 88,893,008	R60C	probably damaging	Het
Mitf	C	T	6: 97,993,253	P54S	probably damaging	Het
Olfr156	T	A	4: 43,821,359	M1L	probably benign	Het
P4hb	A	C	11: 120,562,409	H440Q	probably benign	Het
Pbsn	T	C	X: 77,848,096	T32A	probably damaging	Het
Rptn	A	C	3: 93,395,576	H72P	possibly damaging	Het
Scn1a	T	C	2: 66,327,776	I418V	probably damaging	Het
Sf3a1	T	A	11: 4,180,024		probably null	Het
Slc35f1	C	T	10: 53,108,218	T358I	probably damaging	Het
Slc9c1	A	G	16: 45,606,830		probably benign	Het
Sorcs3	T	A	19: 48,713,504	V608D	probably damaging	Het
Sult2b1	C	T	7: 45,742,216	V49M	probably benign	Het
Tlr11	A	G	14: 50,362,735	E726G	possibly damaging	Het
Treh	C	T	9: 44,684,543	R342W	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
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'- CACACACTGTAAATGGAAAGCTGG -3'
(R):5'- TAGTATGGAGCCTTCACCCTG -3'

Sequencing Primer
(F):5'- TGCACATCTGACCTACAG -3'
(R):5'- CTTCACCCTGTGAGCATGGATG -3'

Posted On

2015-04-17