Mutagenetix > Incidental Mutation

Incidental Mutation 'R9528:Btnl1'

719361

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9528 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34384378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 338 (F338I)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080254
AA Change: F338I

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: F338I

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	T	8: 106,504,497	D105V	unknown	Het
Abi2	T	C	1: 60,434,294	S57P	probably damaging	Het
Acap2	C	A	16: 31,111,090	K358N	possibly damaging	Het
Adgrd1	A	G	5: 129,179,676	Y703C	probably benign	Het
Alpi	A	G	1: 87,099,050		probably null	Het
Bpifb9b	A	G	2: 154,311,377	E121G	probably benign	Het
Clptm1l	G	A	13: 73,612,431	S311N	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Col6a3	T	A	1: 90,804,067	K1488M	probably damaging	Het
Crot	A	T	5: 8,993,575	Y16N	possibly damaging	Het
Dnajc13	T	C	9: 104,237,705	S56G	probably benign	Het
Dpep3	C	A	8: 105,977,619	A230S	probably benign	Het
Gabrr2	T	C	4: 33,081,483	I173T	probably benign	Het
Klhl5	T	C	5: 65,156,243		probably null	Het
Lekr1	T	C	3: 65,684,187	F115S	unknown	Het
Lipc	A	T	9: 70,934,559	M1K	probably null	Het
Lrfn5	T	A	12: 61,839,622	N65K	probably benign	Het
Mmp17	G	C	5: 129,606,328	E509D	probably benign	Het
Myo1f	T	C	17: 33,578,182		probably null	Het
Olfr304	T	A	7: 86,385,851	R270*	probably null	Het
Olfr63	T	A	17: 33,269,471	V249E	probably damaging	Het
Olfr850	A	G	9: 19,478,148	F34S	probably damaging	Het
Olfr98	T	A	17: 37,263,196	H156L	probably benign	Het
Pclo	G	A	5: 14,677,677	R2183Q	unknown	Het
Plec	T	A	15: 76,176,833	H2968L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,955,891	E125G	probably benign	Het
Prkcd	T	C	14: 30,601,811	D458G	probably damaging	Het
Ptch1	A	C	13: 63,513,801	N1174K	probably benign	Het
Sarnp	A	G	10: 128,872,457	R180G	probably damaging	Het
Secisbp2	A	G	13: 51,656,943	K214E	possibly damaging	Het
Sorl1	C	A	9: 42,022,335		probably null	Het
Speg	T	A	1: 75,387,803	I276N	possibly damaging	Het
Txnrd3	A	G	6: 89,672,972	Y518C	probably damaging	Het
Unc13c	T	A	9: 73,930,678	I964F	possibly damaging	Het
Wars2	A	G	3: 99,204,606	H140R	possibly damaging	Het
Zfp148	T	A	16: 33,496,290	I444N	probably benign	Het

Other mutations in Btnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Btnl1	APN	17	34381117	missense	probably damaging	1.00
IGL01743:Btnl1	APN	17	34385685	missense	probably damaging	1.00
IGL02194:Btnl1	APN	17	34379535	missense	possibly damaging	0.90
IGL02329:Btnl1	APN	17	34382265	missense	possibly damaging	0.85
IGL03275:Btnl1	APN	17	34385512	missense	probably damaging	0.99
3-1:Btnl1	UTSW	17	34381056	missense	probably damaging	1.00
R0021:Btnl1	UTSW	17	34379494	missense	probably benign	0.01
R0021:Btnl1	UTSW	17	34379494	missense	probably benign	0.01
R0371:Btnl1	UTSW	17	34381057	missense	probably damaging	0.99
R1689:Btnl1	UTSW	17	34381208	nonsense	probably null
R1982:Btnl1	UTSW	17	34379751	missense	possibly damaging	0.81
R2109:Btnl1	UTSW	17	34379604	missense	probably damaging	1.00
R2134:Btnl1	UTSW	17	34385634	missense	possibly damaging	0.48
R2760:Btnl1	UTSW	17	34381038	missense	probably damaging	1.00
R4084:Btnl1	UTSW	17	34381159	missense	possibly damaging	0.91
R4586:Btnl1	UTSW	17	34382462	missense	probably damaging	1.00
R4611:Btnl1	UTSW	17	34379725	missense	probably damaging	0.99
R4625:Btnl1	UTSW	17	34379751	missense	probably null	0.99
R5579:Btnl1	UTSW	17	34381552	critical splice donor site	probably null
R5811:Btnl1	UTSW	17	34385529	missense	probably damaging	1.00
R6380:Btnl1	UTSW	17	34379494	missense	probably benign	0.01
R6602:Btnl1	UTSW	17	34385748	missense	probably damaging	0.99
R6633:Btnl1	UTSW	17	34385331	missense	possibly damaging	0.86
R8134:Btnl1	UTSW	17	34385673	missense	possibly damaging	0.86
R8136:Btnl1	UTSW	17	34380040	splice site	probably null
R8840:Btnl1	UTSW	17	34385603	missense	probably benign	0.17
R9120:Btnl1	UTSW	17	34379707	missense	possibly damaging	0.85
R9515:Btnl1	UTSW	17	34381144	missense	probably benign	0.00
R9577:Btnl1	UTSW	17	34384361	missense	probably benign	0.16
RF041:Btnl1	UTSW	17	34381368	missense	probably benign	0.04
X0026:Btnl1	UTSW	17	34377932	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTTCCTGAGAGCACAGAG -3'
(R):5'- AACAGTGTGGCCAAGCTTG -3'

Sequencing Primer
(F):5'- TTCCTGAGAGCACAGAGAGCAC -3'
(R):5'- CCCCATTCAGCTTGAACAAGTGTATG -3'

Posted On

2022-07-18