Mutagenetix > Incidental Mutation

Incidental Mutation 'R9120:Btnl1'

692751

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

LOC240074, Btnl3, NG10, LOC240074

MMRRC Submission

068923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34596106-34605002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34598681 bp (GRCm39)

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: 41,209,141 (GRCm39)		probably benign	Het
Adgrb2	A	G	4: 129,906,302 (GRCm39)	N910S	possibly damaging	Het
Arhgap24	A	T	5: 103,040,016 (GRCm39)	I411F	probably benign	Het
BC030500	T	A	8: 59,365,911 (GRCm39)	L15Q	unknown	Het
BC051665	A	G	13: 60,932,916 (GRCm39)	V15A	probably benign	Het
Bicc1	T	C	10: 70,776,862 (GRCm39)	D732G	probably damaging	Het
Bpifb1	A	G	2: 154,046,692 (GRCm39)	I71V	probably benign	Het
Castor1	T	A	11: 4,170,767 (GRCm39)	V196D	possibly damaging	Het
Col9a2	G	T	4: 120,900,951 (GRCm39)		probably benign	Het
D7Ertd443e	T	A	7: 133,871,986 (GRCm39)	D625V	probably damaging	Het
Dchs2	A	T	3: 83,187,535 (GRCm39)	D1327V	probably damaging	Het
Ddx1	A	G	12: 13,275,458 (GRCm39)	V543A	possibly damaging	Het
Dgkz	G	T	2: 91,768,545 (GRCm39)	D714E	probably benign	Het
Dlk1	A	G	12: 109,424,051 (GRCm39)	D105G	probably benign	Het
Fndc3a	A	G	14: 72,802,133 (GRCm39)	F557L	probably benign	Het
Gm28042	C	T	2: 119,869,462 (GRCm39)	L609F	probably damaging	Het
Gsap	A	G	5: 21,458,434 (GRCm39)	I473V	probably damaging	Het
Jag1	A	T	2: 136,930,354 (GRCm39)	M730K	probably benign	Het
Kazald1	A	T	19: 45,065,211 (GRCm39)	T31S	probably benign	Het
Ldhb	A	G	6: 142,439,935 (GRCm39)	W202R	probably damaging	Het
Lrrcc1	C	T	3: 14,615,489 (GRCm39)	Q528*	probably null	Het
Magi2	A	T	5: 20,733,305 (GRCm39)	K525I	possibly damaging	Het
Map2	A	G	1: 66,453,218 (GRCm39)	I703V	probably damaging	Het
Mdn1	A	T	4: 32,701,814 (GRCm39)	M1516L	probably damaging	Het
Mpzl2	T	A	9: 44,958,583 (GRCm39)	S186R	probably benign	Het
Mtif2	T	C	11: 29,483,951 (GRCm39)	M208T	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Or10ac1	A	C	6: 42,515,583 (GRCm39)	Y124*	probably null	Het
Or1j4	T	A	2: 36,740,143 (GRCm39)	Y28*	probably null	Het
Or5d38	A	G	2: 87,955,123 (GRCm39)	S69P	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8g51	A	G	9: 38,608,735 (GRCm39)	F309S	probably benign	Het
Pgap4	A	G	4: 49,587,093 (GRCm39)	V25A	probably benign	Het
Plod2	G	T	9: 92,424,380 (GRCm39)		probably benign	Het
Rgs14	A	C	13: 55,528,792 (GRCm39)	D311A	probably damaging	Het
Rin1	C	A	19: 5,103,048 (GRCm39)	P446T	probably damaging	Het
Ripor3	T	C	2: 167,822,835 (GRCm39)	K909E	possibly damaging	Het
Rnf139	T	C	15: 58,771,685 (GRCm39)	L570P	probably damaging	Het
Snx17	A	G	5: 31,355,026 (GRCm39)	E347G	probably damaging	Het
Spaca1	A	G	4: 34,029,168 (GRCm39)	S220P	probably damaging	Het
Spen	G	T	4: 141,200,233 (GRCm39)	T2798K		Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trim63	G	A	4: 134,055,003 (GRCm39)		probably benign	Het
Trmt2a	C	A	16: 18,067,722 (GRCm39)	R132S	probably damaging	Het
Ttn	T	C	2: 76,768,716 (GRCm39)	E2952G	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn1r211	A	T	13: 23,035,936 (GRCm39)	F244I	probably damaging	Het
Vmn2r86	T	G	10: 130,289,677 (GRCm39)	S73R	probably benign	Het
Wdr27	A	G	17: 15,152,846 (GRCm39)	L87P	probably damaging	Het
Zfp148	A	G	16: 33,317,596 (GRCm39)	N756S	probably benign	Het
Zfp57	G	A	17: 37,320,650 (GRCm39)	R168H	probably benign	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
R6380:Btnl1	UTSW	17	34,598,468 (GRCm39)	missense	probably benign	0.01
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
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'- GTTTTCTGTGAAGGGACCAGC -3'
(R):5'- GATGTTAAACTCTGATGGTGGCAG -3'

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

Posted On

2021-12-30