Mutagenetix > Incidental Mutation

Incidental Mutation 'R8840:Btnl1'

674391

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 #

R8840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34385603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 453 (T453A)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably benign
Transcript: ENSMUST00000080254
AA Change: T453A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: T453A

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc4	G	A	5: 52,859,131	D484N	probably damaging	Het
Antxr2	T	A	5: 98,004,910	L109F	probably damaging	Het
Arhgap9	A	G	10: 127,325,140	T179A	possibly damaging	Het
Atp6v1b1	A	T	6: 83,756,863	I359F		Het
Bub1	T	C	2: 127,808,007	I644V	probably benign	Het
Ccdc163	T	A	4: 116,710,286		probably null	Het
Ccdc8	T	A	7: 16,994,717	F44I	probably damaging	Het
Ccz1	T	C	5: 144,004,164	I191V	probably damaging	Het
Cldn1	T	C	16: 26,371,536	K31E	possibly damaging	Het
Ctr9	A	G	7: 111,043,030	D321G	probably damaging	Het
Dmxl2	T	C	9: 54,401,855	N1871D	possibly damaging	Het
Dopey2	A	G	16: 93,810,117	I2103V	probably benign	Het
Dscaml1	A	G	9: 45,723,420	E1211G	probably damaging	Het
Eppk1	T	A	15: 76,109,894	D929V	probably benign	Het
Fam151a	T	C	4: 106,745,622	V246A	probably benign	Het
Fsip2	A	G	2: 82,991,262	I5780V	probably benign	Het
Gart	A	T	16: 91,636,122	M313K	probably benign	Het
Gm13023	C	A	4: 143,795,068	T418K	probably damaging	Het
Gnl1	T	G	17: 35,982,594	L224V	probably damaging	Het
Hectd3	T	C	4: 116,998,407	V368A	probably benign	Het
Ibsp	C	T	5: 104,310,140	A181V	probably benign	Het
Kdm1a	T	C	4: 136,560,405	E421G	probably damaging	Het
Kmt2a	A	T	9: 44,809,719	Y3831N	unknown	Het
Meltf	T	C	16: 31,897,202	L733P	probably damaging	Het
Nod2	T	C	8: 88,672,751	F898L	probably benign	Het
Npr3	A	T	15: 11,905,243	Y133N	probably damaging	Het
Olfr947-ps1	G	A	9: 39,289,722	T56I	unknown	Het
Pkd1l3	T	C	8: 109,623,210	V229A	unknown	Het
Primpol	A	T	8: 46,593,696	F188L	probably damaging	Het
Rbm15	A	G	3: 107,332,989	V31A	probably benign	Het
Robo2	T	A	16: 73,985,682	D322V	probably damaging	Het
Rpl3l	A	G	17: 24,733,737	N114S	probably damaging	Het
Sacs	A	G	14: 61,191,728	D412G	probably benign	Het
Sbno2	A	G	10: 80,057,526	S1314P	probably damaging	Het
Sez6	A	G	11: 77,976,487	D770G	probably damaging	Het
Skint7	T	C	4: 111,987,986	F332L	probably benign	Het
Spaca6	A	T	17: 17,831,103	I34F	possibly damaging	Het
Suclg2	T	A	6: 95,569,634	E287V	probably damaging	Het
Trhr2	T	C	8: 122,358,882	Y121C	probably damaging	Het
Ttn	T	G	2: 76,776,027	D18146A	probably damaging	Het
Wdr3	G	A	3: 100,149,937	T450I	probably damaging	Het
Xab2	A	G	8: 3,613,254	F470L	probably benign	Het
Ythdc2	A	G	18: 44,860,624	H912R	probably damaging	Het
Zfp64	A	T	2: 168,926,715	S326T	probably benign	Het
Zswim4	C	T	8: 84,214,070	R800Q	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGAAGGCTTCATGTTGGG -3'
(R):5'- CTGTGCACATCACTTAGGGCTG -3'

Sequencing Primer
(F):5'- AGGCTTCATGTTGGGAAGATACTAC -3'
(R):5'- CACATCACTTAGGGCTGTGCTG -3'

Posted On

2021-07-15