Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Btnl6'

429579

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

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

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34726778-34736326 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34726959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 524 (R524*)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

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

AlphaFold

A2CG22

Predicted Effect

probably null
Transcript: ENSMUST00000075483
AA Change: R524*

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: R524*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,545,796 (GRCm39)	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,407,932 (GRCm39)		probably benign	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,002,522 (GRCm39)	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,563 (GRCm39)	V175A	probably benign	Het
B3galnt2	T	C	13: 14,169,010 (GRCm39)		probably null	Het
BC024139	A	C	15: 76,004,422 (GRCm39)	S711R	probably benign	Het
Bod1l	A	G	5: 41,984,526 (GRCm39)	I508T	probably damaging	Het
C3	C	A	17: 57,528,159 (GRCm39)	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,194,485 (GRCm39)	A367V	probably benign	Het
Ccr1	A	T	9: 123,764,326 (GRCm39)	M68K	probably damaging	Het
Cd27	T	A	6: 125,211,327 (GRCm39)		probably benign	Het
Celf2	C	A	2: 7,085,892 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,897,119 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,622,687 (GRCm39)	K26E	probably damaging	Het
Clcn4	T	A	7: 7,299,032 (GRCm39)	I48F	probably benign	Het
Cnot7	A	T	8: 40,947,061 (GRCm39)	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750 (GRCm39)	I654V	unknown	Het
Dip2a	A	G	10: 76,128,194 (GRCm39)	I22T	probably damaging	Het
Eif4g3	C	T	4: 137,910,645 (GRCm39)	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,825,042 (GRCm39)	G725D	probably damaging	Het
F12	T	C	13: 55,566,304 (GRCm39)	E496G	probably benign	Het
Fam227a	A	T	15: 79,499,637 (GRCm39)	S573T	probably benign	Het
Fnip1	T	C	11: 54,393,415 (GRCm39)	V593A	probably benign	Het
Focad	T	A	4: 88,039,610 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,919,976 (GRCm39)	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,656,573 (GRCm39)		probably null	Het
Gm5592	A	T	7: 40,867,635 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,037,330 (GRCm39)		noncoding transcript	Het
Gm7935	A	T	15: 73,952,963 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Gstm5	G	A	3: 107,805,782 (GRCm39)	A198T	probably damaging	Het
Herc2	T	A	7: 55,832,448 (GRCm39)	V3048D	probably damaging	Het
Htra4	T	G	8: 25,523,585 (GRCm39)	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,464,873 (GRCm39)	M1T	probably null	Het
Ints6	T	C	14: 62,981,384 (GRCm39)	T135A	probably damaging	Het
Itpr1	T	A	6: 108,496,385 (GRCm39)	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,600,993 (GRCm39)	M268L	probably benign	Het
Lrp1b	G	T	2: 40,894,625 (GRCm39)	S2201*	probably null	Het
Lrp2	T	C	2: 69,289,904 (GRCm39)	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,091,722 (GRCm39)	I539N	possibly damaging	Het
Map3k6	T	C	4: 132,974,992 (GRCm39)	I675T	probably damaging	Het
Map3k9	T	A	12: 81,768,826 (GRCm39)	E1074V	probably damaging	Het
Med13l	T	A	5: 118,862,075 (GRCm39)	S339R	probably benign	Het
Mrps18a	T	C	17: 46,436,552 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,882,654 (GRCm39)	E466G	probably damaging	Het
Nat8f2	G	T	6: 85,844,854 (GRCm39)	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,072,625 (GRCm39)	I406T	probably benign	Het
Npc1l1	A	G	11: 6,167,705 (GRCm39)		probably null	Het
Or10z1	A	G	1: 174,078,007 (GRCm39)	V162A	probably damaging	Het
Or5ac20	A	T	16: 59,104,743 (GRCm39)	M39K	probably damaging	Het
Ostf1	C	T	19: 18,558,689 (GRCm39)	G198E	probably benign	Het
Pcsk5	A	G	19: 17,558,619 (GRCm39)	V596A	probably damaging	Het
Pde4c	T	C	8: 71,202,754 (GRCm39)	*647Q	probably null	Het
Pkm	A	T	9: 59,577,917 (GRCm39)	I245F	probably damaging	Het
Prss3b	T	A	6: 41,009,940 (GRCm39)	R131S	probably benign	Het
Ptprj	T	C	2: 90,299,985 (GRCm39)	H179R	probably benign	Het
Rapgef2	A	T	3: 78,976,739 (GRCm39)	S1356T	probably benign	Het
Rbm45	T	A	2: 76,200,594 (GRCm39)	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scel	A	T	14: 103,823,929 (GRCm39)	I386F	probably benign	Het
Serpinb5	A	T	1: 106,809,487 (GRCm39)	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,449,406 (GRCm39)	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,909,625 (GRCm39)	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,788,067 (GRCm39)	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,628,262 (GRCm39)	D25G	probably benign	Het
Snrnp40	T	C	4: 130,256,439 (GRCm39)	S55P	probably damaging	Het
Snx9	T	A	17: 5,970,855 (GRCm39)	C399S	probably damaging	Het
Ttbk2	T	C	2: 120,655,743 (GRCm39)		probably benign	Het
Vmn1r1	A	G	1: 181,985,341 (GRCm39)	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,659,672 (GRCm39)	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491 (GRCm39)	P1851L	possibly damaging	Het
Zfp472	A	T	17: 33,196,717 (GRCm39)	D264V	probably damaging	Het

Other mutations in Btnl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Btnl6	APN	17	34,733,017 (GRCm39)	missense	probably benign	0.00
IGL02501:Btnl6	APN	17	34,734,648 (GRCm39)	missense	possibly damaging	0.82
IGL02539:Btnl6	APN	17	34,727,288 (GRCm39)	missense	probably benign	0.00
IGL02629:Btnl6	APN	17	34,733,442 (GRCm39)	missense	probably damaging	1.00
IGL02724:Btnl6	APN	17	34,727,149 (GRCm39)	nonsense	probably null
IGL03366:Btnl6	APN	17	34,727,153 (GRCm39)	missense	probably damaging	1.00
R0013:Btnl6	UTSW	17	34,734,505 (GRCm39)	nonsense	probably null
R0025:Btnl6	UTSW	17	34,733,273 (GRCm39)	missense	probably benign	0.02
R0144:Btnl6	UTSW	17	34,732,994 (GRCm39)	missense	probably benign	0.29
R0255:Btnl6	UTSW	17	34,727,477 (GRCm39)	missense	probably benign	0.01
R1474:Btnl6	UTSW	17	34,732,620 (GRCm39)	missense	probably damaging	1.00
R1757:Btnl6	UTSW	17	34,733,062 (GRCm39)	missense	probably benign	0.09
R1838:Btnl6	UTSW	17	34,734,516 (GRCm39)	missense	probably damaging	0.99
R2149:Btnl6	UTSW	17	34,733,321 (GRCm39)	missense	possibly damaging	0.47
R2994:Btnl6	UTSW	17	34,734,498 (GRCm39)	missense	possibly damaging	0.82
R3441:Btnl6	UTSW	17	34,727,292 (GRCm39)	missense	probably benign	0.06
R3809:Btnl6	UTSW	17	34,727,202 (GRCm39)	missense	probably benign	0.00
R3936:Btnl6	UTSW	17	34,736,316 (GRCm39)	missense	probably benign
R4462:Btnl6	UTSW	17	34,727,031 (GRCm39)	missense	probably damaging	1.00
R4604:Btnl6	UTSW	17	34,727,435 (GRCm39)	missense	possibly damaging	0.91
R4618:Btnl6	UTSW	17	34,733,120 (GRCm39)	missense	probably damaging	0.98
R4832:Btnl6	UTSW	17	34,732,966 (GRCm39)	missense	possibly damaging	0.80
R5422:Btnl6	UTSW	17	34,733,081 (GRCm39)	missense	possibly damaging	0.93
R6046:Btnl6	UTSW	17	34,727,371 (GRCm39)	missense	probably damaging	1.00
R6170:Btnl6	UTSW	17	34,734,480 (GRCm39)	missense	probably damaging	0.99
R6385:Btnl6	UTSW	17	34,727,343 (GRCm39)	missense	probably benign	0.01
R8213:Btnl6	UTSW	17	34,727,857 (GRCm39)	splice site	probably null
R8676:Btnl6	UTSW	17	34,727,043 (GRCm39)	missense	probably benign	0.00
R8895:Btnl6	UTSW	17	34,734,391 (GRCm39)	missense	probably benign	0.01
R9654:Btnl6	UTSW	17	34,733,140 (GRCm39)	missense	probably damaging	1.00
R9665:Btnl6	UTSW	17	34,732,635 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACAGAGAGTTCCTGGCATG -3'
(R):5'- TTATCTGTCAGGCAAGCTCC -3'

Sequencing Primer
(F):5'- CATGCTGGAGGAATGGAGAGTCTTC -3'
(R):5'- GGTGACATCTCCTTCTATAACATGAG -3'

Posted On

2016-09-06