Mutagenetix > Incidental Mutations

Incidental Mutation 'R8895:Btnl6'

677990

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 #

R8895 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34507804-34517352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34515417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 124 (I124L)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably benign
Transcript: ENSMUST00000075483
AA Change: I124L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: I124L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 70,394,388	R100W	possibly damaging	Het
4931409K22Rik	T	C	5: 24,550,630	D298G	probably benign	Het
5830411N06Rik	C	T	7: 140,261,619	P279S	possibly damaging	Het
Adamts10	G	A	17: 33,549,296	R814H	probably damaging	Het
Akr1a1	A	G	4: 116,641,063	L95P	probably damaging	Het
Amigo2	G	T	15: 97,245,508	N344K	probably damaging	Het
Ankrd11	T	C	8: 122,894,275	D946G	possibly damaging	Het
Bzw2	A	T	12: 36,123,983	C97*	probably null	Het
Celsr2	G	A	3: 108,413,564	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,348,815	L226Q	possibly damaging	Het
Ces1g	T	C	8: 93,319,884	K338E	possibly damaging	Het
Cldn10	G	A	14: 118,855,095	D36N	probably damaging	Het
Cntnap4	T	A	8: 112,752,966	I261N	probably benign	Het
Csnk1g1	T	C	9: 66,007,827		probably null	Het
Cyp2c69	T	C	19: 39,881,466	D104G	possibly damaging	Het
Cyp3a11	T	C	5: 145,860,520	T350A	probably benign	Het
Daw1	T	A	1: 83,209,290	C274S	probably damaging	Het
Dmtn	T	C	14: 70,612,704	T267A	probably benign	Het
Dock5	A	G	14: 67,817,663	Y585H	possibly damaging	Het
Dsg2	T	G	18: 20,590,069	V384G	probably damaging	Het
Elmo1	C	T	13: 20,564,460	L492F	probably damaging	Het
Fam172a	T	A	13: 77,999,654	N280K	probably damaging	Het
Fmo1	T	C	1: 162,830,258	D438G	probably benign	Het
Folr2	C	T	7: 101,840,201	V244M	unknown	Het
Galnt18	T	C	7: 111,779,502	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,833,150	Y119*	probably null	Het
Gm853	T	C	4: 130,211,430	K316E	probably benign	Het
Gm884	T	A	11: 103,618,830	T771S	unknown	Het
Gria4	A	G	9: 4,664,951	S102P	probably damaging	Het
Hc	A	T	2: 35,000,849	N1318K	probably benign	Het
Ifitm1	T	C	7: 140,969,586	L94P	probably damaging	Het
Itga9	G	A	9: 118,681,767	V455M	probably damaging	Het
Kank4	C	T	4: 98,765,510	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,796,661		probably benign	Het
Lamb1	A	G	12: 31,302,954	T885A	possibly damaging	Het
Lamp5	A	G	2: 136,060,954	T198A	probably benign	Het
Lipi	A	T	16: 75,555,822	L376I	probably benign	Het
Luc7l	T	C	17: 26,254,004	I31T	possibly damaging	Het
Malrd1	A	T	2: 15,845,227	N1219I	unknown	Het
Mcf2l	C	T	8: 12,984,330		probably benign	Het
Mrc1	A	C	2: 14,307,949	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,816,287	A127T	possibly damaging	Het
Myom2	T	A	8: 15,102,589	Y645*	probably null	Het
Naip2	T	C	13: 100,189,136	H88R	probably benign	Het
Noc3l	T	A	19: 38,810,307	K282N	probably damaging	Het
Nwd2	T	C	5: 63,805,898	Y942H	probably damaging	Het
Olfr1123	T	C	2: 87,418,315	V87A	probably benign	Het
Olfr646	T	A	7: 104,107,095	I272N	probably damaging	Het
Osbpl9	C	A	4: 109,073,136	A221S	probably benign	Het
Paip1	T	C	13: 119,430,265	L45S	probably benign	Het
Peak1	T	C	9: 56,206,654	T1668A	probably benign	Het
Pgap3	A	G	11: 98,390,776	F199L	possibly damaging	Het
Ppip5k2	T	C	1: 97,711,819	M1061V	probably benign	Het
Ppp6r3	A	T	19: 3,494,017	W333R	probably damaging	Het
Ptk2b	T	A	14: 66,174,793	N383I	probably benign	Het
Rab21	G	C	10: 115,315,175	R58G	probably benign	Het
Rabif	C	T	1: 134,506,197	T83I	probably damaging	Het
Rdh7	A	T	10: 127,888,561	F18Y	probably benign	Het
Sept5	A	G	16: 18,623,111	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,582,234	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,369,836	M495L	probably benign	Het
Sntg1	T	A	1: 8,677,850		probably null	Het
Spred2	T	A	11: 20,001,019	I72N	probably benign	Het
St3gal1	A	T	15: 67,108,237	I271N	possibly damaging	Het
Stox1	A	T	10: 62,659,607	H962Q	probably benign	Het
Supt6	A	T	11: 78,212,838	M1347K	probably damaging	Het
Susd2	G	T	10: 75,639,618	A484D	possibly damaging	Het
Tmem260	A	G	14: 48,500,388		probably benign	Het
Tpbg	C	A	9: 85,844,467	A163E	possibly damaging	Het
Tpx2	T	C	2: 152,882,335	Y344H	probably damaging	Het
Ttf2	A	T	3: 100,962,712	F348L	probably benign	Het
Ttn	A	T	2: 76,833,306	V11675E	unknown	Het
Txnl4b	T	A	8: 109,572,835	Y142*	probably null	Het
Vmn2r18	G	A	5: 151,561,675	R785C	possibly damaging	Het
Zbtb18	T	A	1: 177,448,478	V459E	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
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
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

Posted On

2021-08-02