Mutagenetix > Incidental Mutation

Incidental Mutation 'R9120:Btnl1'

692751

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 #

R9120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34379707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 99 (Q99L)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080254
AA Change: Q99L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: Q99L

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 40,756,104		probably benign	Het
Adgrb2	A	G	4: 130,012,509	N910S	possibly damaging	Het
Arhgap24	A	T	5: 102,892,150	I411F	probably benign	Het
BC030500	T	A	8: 58,912,877	L15Q	unknown	Het
BC051665	A	G	13: 60,785,102	V15A	probably benign	Het
Bicc1	T	C	10: 70,941,032	D732G	probably damaging	Het
Bpifb1	A	G	2: 154,204,772	I71V	probably benign	Het
Col9a2	G	T	4: 121,043,754		probably benign	Het
D7Ertd443e	T	A	7: 134,270,257	D625V	probably damaging	Het
Dchs2	A	T	3: 83,280,228	D1327V	probably damaging	Het
Ddx1	A	G	12: 13,225,457	V543A	possibly damaging	Het
Dgkz	G	T	2: 91,938,200	D714E	probably benign	Het
Dlk1	A	G	12: 109,458,125	D105G	probably benign	Het
Fndc3a	A	G	14: 72,564,693	F557L	probably benign	Het
Gatsl3	T	A	11: 4,220,767	V196D	possibly damaging	Het
Gm28042	C	T	2: 120,038,981	L609F	probably damaging	Het
Gsap	A	G	5: 21,253,436	I473V	probably damaging	Het
Jag1	A	T	2: 137,088,434	M730K	probably benign	Het
Kazald1	A	T	19: 45,076,772	T31S	probably benign	Het
Ldhb	A	G	6: 142,494,209	W202R	probably damaging	Het
Lrrcc1	C	T	3: 14,550,429	Q528*	probably null	Het
Magi2	A	T	5: 20,528,307	K525I	possibly damaging	Het
Map2	A	G	1: 66,414,059	I703V	probably damaging	Het
Mdn1	A	T	4: 32,701,814	M1516L	probably damaging	Het
Mpzl2	T	A	9: 45,047,285	S186R	probably benign	Het
Mtif2	T	C	11: 29,533,951	M208T	probably benign	Het
Myo3a	T	C	2: 22,544,426	V873A	probably benign	Het
Olfr1166	A	G	2: 88,124,779	S69P	probably damaging	Het
Olfr350	T	A	2: 36,850,131	Y28*	probably null	Het
Olfr455	A	C	6: 42,538,649	Y124*	probably null	Het
Olfr478	T	C	7: 108,031,680	Y221C	probably damaging	Het
Olfr919	A	G	9: 38,697,439	F309S	probably benign	Het
Plod2	G	T	9: 92,542,327		probably benign	Het
Rgs14	A	C	13: 55,380,979	D311A	probably damaging	Het
Rin1	C	A	19: 5,053,020	P446T	probably damaging	Het
Ripor3	T	C	2: 167,980,915	K909E	possibly damaging	Het
Rnf139	T	C	15: 58,899,836	L570P	probably damaging	Het
Snx17	A	G	5: 31,197,682	E347G	probably damaging	Het
Spaca1	A	G	4: 34,029,168	S220P	probably damaging	Het
Spen	G	T	4: 141,472,922	T2798K		Het
Tacc1	G	T	8: 25,169,239	S570R	probably damaging	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tmem246	A	G	4: 49,587,093	V25A	probably benign	Het
Trim63	G	A	4: 134,327,692		probably benign	Het
Trmt2a	C	A	16: 18,249,858	R132S	probably damaging	Het
Ttn	T	C	2: 76,938,372	E2952G	unknown	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn1r211	A	T	13: 22,851,766	F244I	probably damaging	Het
Vmn2r86	T	G	10: 130,453,808	S73R	probably benign	Het
Wdr27	A	G	17: 14,932,584	L87P	probably damaging	Het
Zfp148	A	G	16: 33,497,226	N756S	probably benign	Het
Zfp57	G	A	17: 37,009,758	R168H	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
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

Predicted Primers

PCR Primer
(F):5'- GTTTTCTGTGAAGGGACCAGC -3'
(R):5'- GATGTTAAACTCTGATGGTGGCAG -3'

Sequencing Primer
(F):5'- AGCTGAGCCCATCACTGTC -3'
(R):5'- CAGTTACATTGTGACCTTGTGCCAAG -3'

Posted On

2021-12-30