Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Btnl1'

515288

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

LOC240074, Btnl3, NG10, LOC240074

MMRRC Submission

044529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34596106-34605002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34598468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 28 (E28G)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080254]

AlphaFold

Q7TST0

Predicted Effect

probably benign
Transcript: ENSMUST00000080254
AA Change: E28G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: E28G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	48	129	1.28e-10	SMART
Blast:IG_like	153	223	1e-26	BLAST
transmembrane domain	249	271	N/A	INTRINSIC
Pfam:SPRY	389	506	1.8e-9	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cdyl2	T	A	8: 117,309,923 (GRCm39)	K344N	probably damaging	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lfng	T	A	5: 140,600,151 (GRCm39)		probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or51a5	A	T	7: 102,771,136 (GRCm39)	F281Y	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 155,894,234 (GRCm39)	E274G	possibly damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,043,968 (GRCm39)	S221P	probably damaging	Het

Other mutations in Btnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Btnl1	APN	17	34,600,091 (GRCm39)	missense	probably damaging	1.00
IGL01743:Btnl1	APN	17	34,604,659 (GRCm39)	missense	probably damaging	1.00
IGL02194:Btnl1	APN	17	34,598,509 (GRCm39)	missense	possibly damaging	0.90
IGL02329:Btnl1	APN	17	34,601,239 (GRCm39)	missense	possibly damaging	0.85
IGL03275:Btnl1	APN	17	34,604,486 (GRCm39)	missense	probably damaging	0.99
3-1:Btnl1	UTSW	17	34,600,030 (GRCm39)	missense	probably damaging	1.00
R0021:Btnl1	UTSW	17	34,598,468 (GRCm39)	missense	probably benign	0.01
R0021:Btnl1	UTSW	17	34,598,468 (GRCm39)	missense	probably benign	0.01
R0371:Btnl1	UTSW	17	34,600,031 (GRCm39)	missense	probably damaging	0.99
R1689:Btnl1	UTSW	17	34,600,182 (GRCm39)	nonsense	probably null
R1982:Btnl1	UTSW	17	34,598,725 (GRCm39)	missense	possibly damaging	0.81
R2109:Btnl1	UTSW	17	34,598,578 (GRCm39)	missense	probably damaging	1.00
R2134:Btnl1	UTSW	17	34,604,608 (GRCm39)	missense	possibly damaging	0.48
R2760:Btnl1	UTSW	17	34,600,012 (GRCm39)	missense	probably damaging	1.00
R4084:Btnl1	UTSW	17	34,600,133 (GRCm39)	missense	possibly damaging	0.91
R4586:Btnl1	UTSW	17	34,601,436 (GRCm39)	missense	probably damaging	1.00
R4611:Btnl1	UTSW	17	34,598,699 (GRCm39)	missense	probably damaging	0.99
R4625:Btnl1	UTSW	17	34,598,725 (GRCm39)	missense	probably null	0.99
R5579:Btnl1	UTSW	17	34,600,526 (GRCm39)	critical splice donor site	probably null
R5811:Btnl1	UTSW	17	34,604,503 (GRCm39)	missense	probably damaging	1.00
R6602:Btnl1	UTSW	17	34,604,722 (GRCm39)	missense	probably damaging	0.99
R6633:Btnl1	UTSW	17	34,604,305 (GRCm39)	missense	possibly damaging	0.86
R8134:Btnl1	UTSW	17	34,604,647 (GRCm39)	missense	possibly damaging	0.86
R8136:Btnl1	UTSW	17	34,599,014 (GRCm39)	splice site	probably null
R8840:Btnl1	UTSW	17	34,604,577 (GRCm39)	missense	probably benign	0.17
R9120:Btnl1	UTSW	17	34,598,681 (GRCm39)	missense	possibly damaging	0.85
R9515:Btnl1	UTSW	17	34,600,118 (GRCm39)	missense	probably benign	0.00
R9528:Btnl1	UTSW	17	34,603,352 (GRCm39)	missense	possibly damaging	0.91
R9577:Btnl1	UTSW	17	34,603,335 (GRCm39)	missense	probably benign	0.16
RF041:Btnl1	UTSW	17	34,600,342 (GRCm39)	missense	probably benign	0.04
X0026:Btnl1	UTSW	17	34,596,906 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCGAGACATTTATACACTGAAC -3'
(R):5'- CAATGGCTTGTCTCACCATCTG -3'

Sequencing Primer
(F):5'- CTGTGAAAGTGCAGTGTTG -3'
(R):5'- GTATTCCGGCATCTGCACC -3'

Posted On

2018-05-04