Mutagenetix > Incidental Mutations

Incidental Mutation 'R0144:Btnl6'

22538

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

038429-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34514020 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 290 (R290S)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: R290S

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: R290S

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,605,965		probably null	Het
Acp6	T	A	3: 97,165,829		probably benign	Het
AI661453	A	T	17: 47,469,299		probably benign	Het
Aox1	A	G	1: 58,070,074	I674V	probably benign	Het
Armc2	A	T	10: 41,947,887		probably benign	Het
Atp8b1	G	C	18: 64,571,374		probably benign	Het
Baz2b	A	T	2: 59,907,495	N1823K	probably damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Brca1	A	T	11: 101,526,121	S396T	probably damaging	Het
Casp8ap2	A	G	4: 32,643,797	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,827,351	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,276,203	I738T	probably damaging	Het
Ccdc58	A	T	16: 36,085,114	N92I	possibly damaging	Het
Ceacam15	G	T	7: 16,673,191	H134N	probably benign	Het
Cep170	T	C	1: 176,792,595	I46V	probably benign	Het
Cfap57	T	C	4: 118,584,705	D722G	probably damaging	Het
Col11a1	A	T	3: 114,113,594	D628V	unknown	Het
Csmd1	A	T	8: 16,391,824	V342E	probably benign	Het
Dennd1a	A	G	2: 38,126,640	V64A	probably damaging	Het
Dlec1	G	T	9: 119,142,866	G1345V	probably benign	Het
Dnah1	G	A	14: 31,267,874		probably benign	Het
Dock5	C	T	14: 67,786,286	G1142D	probably benign	Het
Etv2	C	A	7: 30,634,883	A142S	probably benign	Het
Fam110c	C	A	12: 31,074,501	T154K	unknown	Het
Fbxo17	C	G	7: 28,735,340	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,295,220	W681R	probably damaging	Het
Fig4	A	G	10: 41,258,049	Y413H	probably damaging	Het
Gab1	A	G	8: 80,785,201		probably benign	Het
Gabarapl1	T	C	6: 129,533,448	M1T	probably null	Het
Gm4763	A	G	7: 24,723,590	V101A	possibly damaging	Het
H2-M10.6	G	A	17: 36,812,241	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,962,013	D2432G	probably damaging	Het
Il13	T	C	11: 53,633,176	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,751,920	L479P	probably damaging	Het
Itpr2	T	A	6: 146,327,155	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,706,156	G427S	probably benign	Het
Kcnb1	T	G	2: 167,104,547	N794H	probably damaging	Het
Klhl8	A	T	5: 103,867,938	S361R	probably benign	Het
Krt87	T	C	15: 101,438,661	Y37C	probably benign	Het
Lbp	A	T	2: 158,319,710	S231C	probably damaging	Het
Lpin2	A	G	17: 71,225,076	E142G	probably damaging	Het
Lrch4	G	A	5: 137,638,543		probably null	Het
Manea	A	G	4: 26,340,719	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,481,015	T618A	probably benign	Het
Me3	A	G	7: 89,739,872	D128G	probably damaging	Het
Mug2	A	G	6: 122,071,011		probably benign	Het
Myo9b	A	T	8: 71,346,043	Q901L	probably damaging	Het
Nalcn	C	T	14: 123,409,839		probably benign	Het
Nalcn	T	C	14: 123,371,536	R640G	probably damaging	Het
Ncor1	T	C	11: 62,392,595	N422S	probably damaging	Het
Nf1	T	A	11: 79,547,127	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,348,392	A358T	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr486	T	C	7: 108,171,971	I258V	probably benign	Het
Olfr593	A	T	7: 103,212,540	I216F	probably damaging	Het
Phlpp2	C	T	8: 109,907,513	R242W	probably damaging	Het
Pld5	T	C	1: 175,970,541	N431D	probably benign	Het
Prss28	G	A	17: 25,309,450	V16M	probably damaging	Het
Psmd2	T	A	16: 20,662,225		probably null	Het
Ptpn21	A	T	12: 98,688,609	S700T	probably benign	Het
Rasa2	A	T	9: 96,592,019	V152D	probably damaging	Het
Reln	G	T	5: 21,948,449	R2286S	probably damaging	Het
Rflnb	G	T	11: 76,024,963	P102Q	probably damaging	Het
Rin2	G	A	2: 145,876,639	V680I	probably damaging	Het
Rnf213	A	T	11: 119,479,600	K4742*	probably null	Het
Rpp40	A	T	13: 35,901,369	S143T	probably benign	Het
Rps12	A	G	10: 23,786,791	I51T	probably benign	Het
Rsf1	T	A	7: 97,636,407	W109R	probably damaging	Het
Sipa1l2	C	T	8: 125,449,876		probably null	Het
Tspan5	G	T	3: 138,898,348	V165L	probably damaging	Het
Uts2r	T	A	11: 121,161,465	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,789,016	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,579		probably benign	Het
Zmiz1	A	G	14: 25,655,247	K766R	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTCCTTTGAGCTGAAAAGCAAC -3'
(R):5'- ACAGAGCCCTTCTTTCCCAAGGTC -3'

Sequencing Primer
(F):5'- GGGTTCCTGATTCTCTGAACTACAG -3'
(R):5'- AAGGTCTCTCCCTGGAAGC -3'

Posted On

2013-04-16