Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Btnl1'

317054

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34381159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 212 (T212I)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080254
AA Change: T212I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: T212I

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,724,685 (GRCm38)		probably null	Het
Arhgdig	T	C	17: 26,199,825 (GRCm38)	D114G	possibly damaging	Het
Camkk1	C	T	11: 73,037,865 (GRCm38)	T410I	probably damaging	Het
Capn13	C	T	17: 73,337,449 (GRCm38)	G362R	probably benign	Het
Catsperd	A	G	17: 56,654,453 (GRCm38)	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632 (GRCm38)	I1626V	probably benign	Het
Cdon	C	A	9: 35,478,131 (GRCm38)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm38)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm38)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,709,588 (GRCm38)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,734,363 (GRCm38)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,739,248 (GRCm38)	V457A	probably damaging	Het
Flna	C	T	X: 74,236,925 (GRCm38)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 53,107,495 (GRCm38)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,388,511 (GRCm38)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,490,512 (GRCm38)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,314,443 (GRCm38)	V213A	probably damaging	Het
Herc4	G	T	10: 63,283,237 (GRCm38)	G322V	probably damaging	Het
Hgf	G	T	5: 16,615,858 (GRCm38)	G668*	probably null	Het
Htra1	T	C	7: 130,936,344 (GRCm38)	S25P	probably benign	Het
Ifi44	A	G	3: 151,745,489 (GRCm38)		probably null	Het
Klhl24	T	A	16: 20,114,562 (GRCm38)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,488,018 (GRCm38)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,969,763 (GRCm38)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,795,424 (GRCm38)	I634N	probably damaging	Het
Lipn	T	C	19: 34,078,940 (GRCm38)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,793,292 (GRCm38)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,821,151 (GRCm38)	T22I	probably benign	Het
Macf1	T	C	4: 123,450,072 (GRCm38)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,648,655 (GRCm38)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,490,077 (GRCm38)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,233,484 (GRCm38)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,488,791 (GRCm38)	L62P	probably damaging	Het
Or11h6	T	A	14: 50,642,848 (GRCm38)	I189N	probably damaging	Het
Or2b2	G	A	13: 21,703,068 (GRCm38)	W22*	probably null	Het
Or2b2	C	A	13: 21,703,069 (GRCm38)	L23M	probably damaging	Het
Or52ab4	T	G	7: 103,338,320 (GRCm38)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,392,707 (GRCm38)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,312,325 (GRCm38)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,133,067 (GRCm38)	F441L	probably damaging	Het
Prkaca	C	A	8: 83,995,310 (GRCm38)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Ripor3	A	G	2: 167,984,466 (GRCm38)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,149,351 (GRCm38)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,579,919 (GRCm38)		probably benign	Het
Ryr3	A	G	2: 112,900,908 (GRCm38)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,788,790 (GRCm38)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,089,126 (GRCm38)	I273L	possibly damaging	Het
Slc23a2	A	T	2: 132,091,217 (GRCm38)	L107*	probably null	Het
Slc44a4	T	C	17: 34,917,347 (GRCm38)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,667,029 (GRCm38)	V387I	probably benign	Het
Slu7	G	A	11: 43,443,391 (GRCm38)	A415T	probably benign	Het
Tlr5	A	T	1: 182,974,848 (GRCm38)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 57,071,024 (GRCm38)	G3D	probably benign	Het
Trim24	A	G	6: 37,915,257 (GRCm38)	T242A	probably damaging	Het
Triobp	T	A	15: 78,973,671 (GRCm38)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,139,177 (GRCm38)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,215,985 (GRCm38)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,692,993 (GRCm38)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,263,098 (GRCm38)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,778,365 (GRCm38)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,266,202 (GRCm38)	N27K	possibly damaging	Het
Zfp27	C	T	7: 29,895,367 (GRCm38)	R391H	possibly damaging	Het

Other mutations in Btnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Btnl1	APN	17	34,381,117 (GRCm38)	missense	probably damaging	1.00
IGL01743:Btnl1	APN	17	34,385,685 (GRCm38)	missense	probably damaging	1.00
IGL02194:Btnl1	APN	17	34,379,535 (GRCm38)	missense	possibly damaging	0.90
IGL02329:Btnl1	APN	17	34,382,265 (GRCm38)	missense	possibly damaging	0.85
IGL03275:Btnl1	APN	17	34,385,512 (GRCm38)	missense	probably damaging	0.99
3-1:Btnl1	UTSW	17	34,381,056 (GRCm38)	missense	probably damaging	1.00
R0021:Btnl1	UTSW	17	34,379,494 (GRCm38)	missense	probably benign	0.01
R0021:Btnl1	UTSW	17	34,379,494 (GRCm38)	missense	probably benign	0.01
R0371:Btnl1	UTSW	17	34,381,057 (GRCm38)	missense	probably damaging	0.99
R1689:Btnl1	UTSW	17	34,381,208 (GRCm38)	nonsense	probably null
R1982:Btnl1	UTSW	17	34,379,751 (GRCm38)	missense	possibly damaging	0.81
R2109:Btnl1	UTSW	17	34,379,604 (GRCm38)	missense	probably damaging	1.00
R2134:Btnl1	UTSW	17	34,385,634 (GRCm38)	missense	possibly damaging	0.48
R2760:Btnl1	UTSW	17	34,381,038 (GRCm38)	missense	probably damaging	1.00
R4586:Btnl1	UTSW	17	34,382,462 (GRCm38)	missense	probably damaging	1.00
R4611:Btnl1	UTSW	17	34,379,725 (GRCm38)	missense	probably damaging	0.99
R4625:Btnl1	UTSW	17	34,379,751 (GRCm38)	missense	probably null	0.99
R5579:Btnl1	UTSW	17	34,381,552 (GRCm38)	critical splice donor site	probably null
R5811:Btnl1	UTSW	17	34,385,529 (GRCm38)	missense	probably damaging	1.00
R6380:Btnl1	UTSW	17	34,379,494 (GRCm38)	missense	probably benign	0.01
R6602:Btnl1	UTSW	17	34,385,748 (GRCm38)	missense	probably damaging	0.99
R6633:Btnl1	UTSW	17	34,385,331 (GRCm38)	missense	possibly damaging	0.86
R8134:Btnl1	UTSW	17	34,385,673 (GRCm38)	missense	possibly damaging	0.86
R8136:Btnl1	UTSW	17	34,380,040 (GRCm38)	splice site	probably null
R8840:Btnl1	UTSW	17	34,385,603 (GRCm38)	missense	probably benign	0.17
R9120:Btnl1	UTSW	17	34,379,707 (GRCm38)	missense	possibly damaging	0.85
R9515:Btnl1	UTSW	17	34,381,144 (GRCm38)	missense	probably benign	0.00
R9528:Btnl1	UTSW	17	34,384,378 (GRCm38)	missense	possibly damaging	0.91
R9577:Btnl1	UTSW	17	34,384,361 (GRCm38)	missense	probably benign	0.16
RF041:Btnl1	UTSW	17	34,381,368 (GRCm38)	missense	probably benign	0.04
X0026:Btnl1	UTSW	17	34,377,932 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTTCACATGACAGGACCTGAG -3'
(R):5'- TTCCATGGACACGTCTTGGG -3'

Sequencing Primer
(F):5'- CCTGAGAATGATGGGATCCG -3'
(R):5'- CTCTGACAAGGTACAGGTGGAC -3'

Posted On

2015-05-15