Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02329:Btnl1'

288591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02329

Quality Score

Status

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34382265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 322 (E322G)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080254
AA Change: E322G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: E322G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016C15Rik	A	T	1: 177,743,301	Q67L	probably benign	Het
Atg2a	T	C	19: 6,249,929		probably null	Het
Bfsp1	T	C	2: 143,862,646	T96A	probably benign	Het
Cand2	T	C	6: 115,789,607	V391A	probably damaging	Het
Ccdc169	A	G	3: 55,171,281	M188V	probably benign	Het
Cngb1	T	C	8: 95,242,359	I1174V	probably benign	Het
Cpeb4	T	C	11: 31,872,316	V10A	possibly damaging	Het
Cpt1b	T	C	15: 89,423,739	T206A	probably benign	Het
Dapk3	T	C	10: 81,190,165	S97P	probably benign	Het
Drc3	T	C	11: 60,370,578	L185P	probably damaging	Het
Efr3b	T	C	12: 3,992,923		probably null	Het
Erbb3	T	A	10: 128,573,219	I742F	probably damaging	Het
Fktn	A	G	4: 53,720,181	Y65C	probably benign	Het
Fstl5	G	A	3: 76,588,995	G355D	probably damaging	Het
Grm8	A	T	6: 27,363,116	I800N	probably damaging	Het
Gss	C	T	2: 155,567,853	R221H	probably benign	Het
H2-M10.4	A	T	17: 36,460,467	V273D	probably damaging	Het
Large1	C	A	8: 73,048,317	W255L	possibly damaging	Het
Meig1	T	C	2: 3,409,251	K71E	probably damaging	Het
Mtor	A	G	4: 148,534,939	N1760D	probably benign	Het
Ncapd2	A	T	6: 125,189,818	N24K	probably damaging	Het
Nphp3	A	C	9: 104,025,968	S715R	probably benign	Het
Papolg	T	G	11: 23,891,869	H18P	probably damaging	Het
Psd	T	C	19: 46,319,659	H667R	possibly damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rtp1	T	C	16: 23,431,193	S103P	probably damaging	Het
Snx21	T	C	2: 164,792,390		probably benign	Het
Tiam1	G	T	16: 89,800,036	H301N	probably benign	Het
Trcg1	A	T	9: 57,240,393	I11F	possibly damaging	Het
Trpm6	A	G	19: 18,854,217	K1482R	probably benign	Het
Tyw1	G	T	5: 130,267,080	G116V	probably benign	Het
Zfp341	T	C	2: 154,632,304	C343R	possibly damaging	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
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
R9528:Btnl1	UTSW	17	34384378	missense	possibly damaging	0.91
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

Posted On

2015-04-16