Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Btnl1'

30503

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

038577-MU

Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34381057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 178 (V178A)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080254
AA Change: V178A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: V178A

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

0.2000

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,288,047	R1068C	probably benign	Het
Afmid	C	T	11: 117,835,140		probably benign	Het
Aqr	A	G	2: 114,157,604	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033	T288R	possibly damaging	Het
Ccdc110	T	A	8: 45,942,806	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,562,812	E51*	probably null	Het
Cep290	T	A	10: 100,518,564		probably benign	Het
Cilp2	T	C	8: 69,881,606	E914G	probably damaging	Het
Col6a2	T	C	10: 76,614,473	N208S	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,326,683	R229G	probably damaging	Het
Dach1	C	T	14: 97,969,903	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,450,823	N321S	probably benign	Het
Enpep	C	T	3: 129,283,867		probably null	Het
Fat1	T	C	8: 44,951,892	L560P	probably damaging	Het
Fdxr	T	C	11: 115,276,089	H58R	possibly damaging	Het
Filip1	G	T	9: 79,860,091	P147T	probably damaging	Het
Fras1	G	A	5: 96,555,331	E318K	possibly damaging	Het
Gm4759	A	T	7: 106,422,779	C339S	unknown	Het
Grk2	T	C	19: 4,291,586		probably null	Het
Havcr1	T	C	11: 46,752,589	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,277,368		probably benign	Het
Ildr2	G	A	1: 166,303,564	V330I	probably damaging	Het
Ino80d	T	C	1: 63,057,956		probably benign	Het
Iqsec1	A	G	6: 90,670,403		probably benign	Het
Irf2bpl	C	T	12: 86,881,643	W752*	probably null	Het
Kdr	T	A	5: 75,941,834	H1211L	probably benign	Het
Klri2	A	G	6: 129,732,143	*249R	probably null	Het
Ktn1	A	T	14: 47,724,003	K1054*	probably null	Het
Lactb2	A	G	1: 13,650,760	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560	C15*	probably null	Het
Mrs2	T	C	13: 24,993,095	I430V	probably benign	Het
Myo3b	C	T	2: 70,252,960		probably benign	Het
Nbas	C	T	12: 13,331,095	T696I	probably damaging	Het
Nsun6	T	C	2: 15,030,087	D240G	probably damaging	Het
Nup107	T	C	10: 117,763,769	E615G	probably damaging	Het
Olfr1283	A	T	2: 111,369,153	I174L	probably benign	Het
Olfr205	A	G	16: 59,329,222	C96R	possibly damaging	Het
Olfr411	T	A	11: 74,346,934	I217F	probably damaging	Het
Olfr447	A	T	6: 42,911,938	R138S	probably benign	Het
Pabpc1l	G	A	2: 164,035,272	V256M	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sik1	T	C	17: 31,848,984	D409G	probably benign	Het
Slc22a22	A	T	15: 57,249,735	D369E	possibly damaging	Het
Smg1	T	A	7: 118,168,300		probably benign	Het
Snap29	C	A	16: 17,406,203	D27E	probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Sorcs3	A	G	19: 48,603,894	I333V	probably benign	Het
Spag7	A	G	11: 70,664,796	M105T	probably damaging	Het
Srgap3	A	T	6: 112,771,471	S407T	probably damaging	Het
Supt6	T	C	11: 78,223,157	N854S	probably benign	Het
Syne2	T	C	12: 75,933,845	S1460P	probably damaging	Het
Taok3	C	T	5: 117,206,687	Q160*	probably null	Het
Tchhl1	C	A	3: 93,469,577	A27E	probably damaging	Het
Tet1	T	C	10: 62,878,399	D539G	probably damaging	Het
Tut1	T	C	19: 8,962,773	F374L	probably damaging	Het
Unc5c	C	T	3: 141,827,522	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,590,132	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,257,294	H285L	probably benign	Het
Wdr62	G	A	7: 30,242,158	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,788,723	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190	N106S	probably damaging	Het
Zfp345	G	T	2: 150,472,063	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,204,667	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,526,674	E89K	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTGACACCCTCTGGCACTAAC -3'
(R):5'- TGGGATTTTGGATGGAGCAGATCAC -3'

Sequencing Primer
(F):5'- CTGAGGTCAAGCAGTGTCAC -3'
(R):5'- TGGAGCAGATCACATTGCC -3'

Posted On

2013-04-24