Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Btnl6'

301187

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: 0.069) question?

Stock #

IGL02629

Quality Score

Status

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34514468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 178 (V178M)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably damaging
Transcript: ENSMUST00000075483
AA Change: V178M

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

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: V178M

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,609,144 (GRCm38)		probably benign	Het
Aadacl3	A	G	4: 144,463,629 (GRCm38)	I34T	possibly damaging	Het
Acan	T	A	7: 79,111,979 (GRCm38)	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,625,696 (GRCm38)	D701G	probably benign	Het
Arhgap31	C	T	16: 38,609,164 (GRCm38)	G450S	probably benign	Het
Braf	T	C	6: 39,688,299 (GRCm38)	E45G	possibly damaging	Het
Capg	A	T	6: 72,555,754 (GRCm38)	Q67L	probably benign	Het
Carmil3	A	G	14: 55,499,068 (GRCm38)	N663S	probably damaging	Het
Casz1	T	A	4: 148,944,391 (GRCm38)	S1098T	probably benign	Het
Cd55b	A	T	1: 130,419,798 (GRCm38)		probably benign	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Cenpf	A	G	1: 189,652,334 (GRCm38)	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,932,147 (GRCm38)		probably null	Het
Corin	T	C	5: 72,332,673 (GRCm38)	N653S	probably damaging	Het
Dhx36	T	C	3: 62,506,734 (GRCm38)	E69G	probably benign	Het
Dpy19l1	C	A	9: 24,438,713 (GRCm38)		probably benign	Het
Fam184a	T	C	10: 53,698,811 (GRCm38)	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,385,548 (GRCm38)	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417 (GRCm38)	S277P	probably damaging	Het
Hadh	T	A	3: 131,235,635 (GRCm38)	D245V	probably damaging	Het
Jag2	G	A	12: 112,914,514 (GRCm38)		probably benign	Het
Klhl18	A	T	9: 110,429,938 (GRCm38)		probably benign	Het
Lmx1a	G	T	1: 167,844,623 (GRCm38)		probably benign	Het
Mcoln2	A	G	3: 146,170,044 (GRCm38)	Y89C	probably benign	Het
Mug1	A	T	6: 121,840,065 (GRCm38)	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,737,199 (GRCm38)	T32A	probably benign	Het
Nub1	C	T	5: 24,703,464 (GRCm38)	H404Y	possibly damaging	Het
Nudt6	A	G	3: 37,405,171 (GRCm38)	Y222H	probably benign	Het
Or4x6	A	T	2: 90,118,857 (GRCm38)	L247*	probably null	Het
Pla2g4c	A	T	7: 13,335,377 (GRCm38)	R159*	probably null	Het
Pnpla7	A	G	2: 25,050,945 (GRCm38)	D1103G	probably damaging	Het
Pof1b	T	G	X: 112,645,237 (GRCm38)		probably benign	Het
Prrg2	C	T	7: 45,056,742 (GRCm38)		probably null	Het
Rab3gap1	A	G	1: 127,909,863 (GRCm38)	T221A	probably benign	Het
Rfx7	A	G	9: 72,619,259 (GRCm38)	N1244D	probably damaging	Het
Rnf123	A	T	9: 108,070,789 (GRCm38)		probably benign	Het
Rnf123	G	A	9: 108,068,302 (GRCm38)	R390*	probably null	Het
Rnf44	T	G	13: 54,683,062 (GRCm38)	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,241,178 (GRCm38)	D200G	probably damaging	Het
Slc5a4a	T	A	10: 76,147,579 (GRCm38)	S17T	unknown	Het
Smc4	G	T	3: 69,025,873 (GRCm38)	C609F	probably damaging	Het
Sync	T	C	4: 129,293,951 (GRCm38)	F259L	probably damaging	Het
Tas2r113	T	C	6: 132,893,336 (GRCm38)	L109P	probably damaging	Het
Tjp2	C	A	19: 24,122,379 (GRCm38)		probably benign	Het
Tmem30a	C	A	9: 79,776,249 (GRCm38)		probably benign	Het
Unc80	T	C	1: 66,483,317 (GRCm38)	V226A	possibly damaging	Het
Upk2	A	T	9: 44,454,139 (GRCm38)	L44Q	probably damaging	Het
Usp42	T	C	5: 143,723,154 (GRCm38)	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,265,816 (GRCm38)	I215F	probably benign	Het
Zswim2	A	G	2: 83,925,209 (GRCm38)	V116A	possibly damaging	Het

Other mutations in Btnl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Btnl6	APN	17	34,514,043 (GRCm38)	missense	probably benign	0.00
IGL02501:Btnl6	APN	17	34,515,674 (GRCm38)	missense	possibly damaging	0.82
IGL02539:Btnl6	APN	17	34,508,314 (GRCm38)	missense	probably benign	0.00
IGL02724:Btnl6	APN	17	34,508,175 (GRCm38)	nonsense	probably null
IGL03366:Btnl6	APN	17	34,508,179 (GRCm38)	missense	probably damaging	1.00
R0013:Btnl6	UTSW	17	34,515,531 (GRCm38)	nonsense	probably null
R0025:Btnl6	UTSW	17	34,514,299 (GRCm38)	missense	probably benign	0.02
R0144:Btnl6	UTSW	17	34,514,020 (GRCm38)	missense	probably benign	0.29
R0255:Btnl6	UTSW	17	34,508,503 (GRCm38)	missense	probably benign	0.01
R1474:Btnl6	UTSW	17	34,513,646 (GRCm38)	missense	probably damaging	1.00
R1757:Btnl6	UTSW	17	34,514,088 (GRCm38)	missense	probably benign	0.09
R1838:Btnl6	UTSW	17	34,515,542 (GRCm38)	missense	probably damaging	0.99
R2149:Btnl6	UTSW	17	34,514,347 (GRCm38)	missense	possibly damaging	0.47
R2994:Btnl6	UTSW	17	34,515,524 (GRCm38)	missense	possibly damaging	0.82
R3441:Btnl6	UTSW	17	34,508,318 (GRCm38)	missense	probably benign	0.06
R3809:Btnl6	UTSW	17	34,508,228 (GRCm38)	missense	probably benign	0.00
R3936:Btnl6	UTSW	17	34,517,342 (GRCm38)	missense	probably benign
R4462:Btnl6	UTSW	17	34,508,057 (GRCm38)	missense	probably damaging	1.00
R4604:Btnl6	UTSW	17	34,508,461 (GRCm38)	missense	possibly damaging	0.91
R4618:Btnl6	UTSW	17	34,514,146 (GRCm38)	missense	probably damaging	0.98
R4832:Btnl6	UTSW	17	34,513,992 (GRCm38)	missense	possibly damaging	0.80
R5369:Btnl6	UTSW	17	34,507,985 (GRCm38)	nonsense	probably null
R5422:Btnl6	UTSW	17	34,514,107 (GRCm38)	missense	possibly damaging	0.93
R6046:Btnl6	UTSW	17	34,508,397 (GRCm38)	missense	probably damaging	1.00
R6170:Btnl6	UTSW	17	34,515,506 (GRCm38)	missense	probably damaging	0.99
R6385:Btnl6	UTSW	17	34,508,369 (GRCm38)	missense	probably benign	0.01
R8213:Btnl6	UTSW	17	34,508,883 (GRCm38)	splice site	probably null
R8676:Btnl6	UTSW	17	34,508,069 (GRCm38)	missense	probably benign	0.00
R8895:Btnl6	UTSW	17	34,515,417 (GRCm38)	missense	probably benign	0.01
R9654:Btnl6	UTSW	17	34,514,166 (GRCm38)	missense	probably damaging	1.00
R9665:Btnl6	UTSW	17	34,513,661 (GRCm38)	missense	probably benign

Posted On

2015-04-16