Mutagenetix > Incidental Mutation

Incidental Mutation 'R9515:Btnl1'

718513

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 #

R9515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34381144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 207 (V207E)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably benign
Transcript: ENSMUST00000080254
AA Change: V207E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: V207E

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Aamdc	A	G	7: 97,575,601	V18A	probably benign	Het
Adam12	T	A	7: 133,907,644	I796F	probably benign	Het
Adcy7	T	A	8: 88,311,018	V238E	possibly damaging	Het
Adgrv1	G	A	13: 81,543,378	H1697Y	probably damaging	Het
Adrb1	A	G	19: 56,723,393	D341G	probably benign	Het
Akap13	T	C	7: 75,704,527	Y80H	probably benign	Het
Akap9	C	T	5: 4,055,709	L2927F	probably damaging	Het
Alox8	T	A	11: 69,185,124	D667V	probably damaging	Het
Arhgap30	A	G	1: 171,408,434	E792G	probably benign	Het
Arhgef16	A	G	4: 154,280,975	V561A	possibly damaging	Het
Bcap29	A	T	12: 31,626,757	Y105N	probably damaging	Het
Best2	T	A	8: 85,013,518	T6S		Het
Bfsp2	C	A	9: 103,480,052	V59L	possibly damaging	Het
Brd3	T	A	2: 27,459,803	D246V		Het
C87499	T	A	4: 88,627,982	L374F	possibly damaging	Het
Ccdc122	T	A	14: 77,091,968	Y154N		Het
Cfap43	A	G	19: 47,785,375	Y656H	probably damaging	Het
Clca3a2	A	T	3: 144,803,047	Y670*	probably null	Het
Coprs	T	C	8: 13,885,081	Y158C	probably damaging	Het
Desi2	T	G	1: 178,256,604	M106R	unknown	Het
Dnaaf3	T	C	7: 4,528,101	E111G	probably damaging	Het
Epha10	T	A	4: 124,881,911	F13I	probably benign	Het
Fam193a	T	A	5: 34,458,027	F813L	possibly damaging	Het
Fbn1	C	A	2: 125,365,631	A981S	probably benign	Het
Gga2	T	A	7: 122,012,225	T37S	probably damaging	Het
Glra3	T	A	8: 56,125,264	F452Y	probably damaging	Het
Gm10338	T	A	14: 7,594,512	N96I	probably damaging	Het
Gm6502	G	A	5: 94,317,065	V437I	probably benign	Het
Gpd2	A	T	2: 57,305,854	E149V	possibly damaging	Het
Gpr137c	T	G	14: 45,278,772	L321*	probably null	Het
Gsdmc2	T	C	15: 63,830,829	I196M	probably benign	Het
Habp2	A	G	19: 56,306,821	D48G	probably benign	Het
Hdc	G	T	2: 126,616,229	P58T	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Hnrnpr	G	T	4: 136,336,304	V342F	probably damaging	Het
Hyal6	T	A	6: 24,734,930	Y287*	probably null	Het
Igsf8	T	C	1: 172,318,958	Y571H		Het
Kalrn	A	G	16: 34,034,494	S1999P	probably damaging	Het
Lama2	T	A	10: 27,001,174	N2672I	probably benign	Het
Lrrc7	T	C	3: 158,161,468	R879G	probably damaging	Het
Lrwd1	T	G	5: 136,131,559	H307P	probably benign	Het
Mau2	T	C	8: 70,027,503	Y318C	probably damaging	Het
Med13	T	C	11: 86,308,901	Q660R	probably benign	Het
Mepce	G	C	5: 137,785,497	P189R	probably damaging	Het
Mical3	T	A	6: 121,024,797	N578I	probably damaging	Het
Mug1	T	C	6: 121,884,676	S1366P	probably damaging	Het
Nol11	A	T	11: 107,173,452	D511E	possibly damaging	Het
Obscn	T	A	11: 59,103,514	H1514L	probably benign	Het
Olfr1021-ps1	A	T	2: 85,863,578	I56F	probably damaging	Het
Olfr1308	A	G	2: 111,960,239	V278A	possibly damaging	Het
Olfr1464-ps1	G	A	19: 13,282,194	T288I	unknown	Het
Olfr1537	T	C	9: 39,238,329	T32A	probably benign	Het
Olfr168	C	T	16: 19,530,276	A215T	probably benign	Het
Olfr854	T	C	9: 19,567,100	I95V	possibly damaging	Het
Olfr860	A	G	9: 19,846,520	L33P	possibly damaging	Het
Onecut3	C	A	10: 80,496,053	S349*	probably null	Het
Patl2	C	T	2: 122,124,893	G297E	probably benign	Het
Pdlim5	G	A	3: 142,304,350	T168M	probably damaging	Het
Pdzd2	A	C	15: 12,374,535	L1838R	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pkd1l3	T	C	8: 109,669,217	V2083A	probably damaging	Het
Pkhd1	T	A	1: 20,567,517	Y348F	probably damaging	Het
Plekhg5	T	A	4: 152,114,369	S1005T	probably benign	Het
Ppp4r1	T	A	17: 65,835,078	N709K	probably null	Het
Reln	T	C	5: 21,920,510	D2725G	possibly damaging	Het
Rnf41	T	A	10: 128,438,430	I317K	probably benign	Het
Rxfp2	T	C	5: 150,055,979	V268A	possibly damaging	Het
Sema5a	A	G	15: 32,679,227	H884R	probably damaging	Het
Serpinh1	A	T	7: 99,347,277	M236K	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,171	L1064P	probably damaging	Het
Skint6	T	C	4: 112,858,178	H947R	probably benign	Het
Slc12a3	T	A	8: 94,357,030	M895K	possibly damaging	Het
Slc22a3	C	A	17: 12,507,170	R52L	probably damaging	Het
Slc38a1	A	G	15: 96,590,084	L180P	probably damaging	Het
Slc4a3	T	C	1: 75,556,968	V1078A	probably damaging	Het
Snx30	T	A	4: 59,879,241	V160E	probably damaging	Het
Spata18	A	T	5: 73,672,497	I332F		Het
Stard9	C	G	2: 120,704,083	P3607R	probably damaging	Het
Svep1	T	A	4: 58,084,144	Y1876F	possibly damaging	Het
Sytl1	A	G	4: 133,258,980		probably null	Het
Tacc2	A	C	7: 130,764,311	K567Q	probably damaging	Het
Tfr2	A	G	5: 137,577,507	D295G	possibly damaging	Het
Tmem53	C	A	4: 117,267,925	H78Q	probably benign	Het
Tnnt2	G	A	1: 135,840,902	E10K	unknown	Het
Top2a	T	A	11: 99,012,144	I406F	probably damaging	Het
Ttc1	C	A	11: 43,730,478	R292I		Het
Ubr1	T	G	2: 120,873,146	T1568P	probably damaging	Het
Usp25	T	G	16: 77,055,188	V197G	probably damaging	Het
Usp9y	A	T	Y: 1,432,188	N432K	probably benign	Het
Vmn2r26	T	A	6: 124,061,178	Y571N	probably damaging	Het
Zfp7	T	C	15: 76,891,284	S509P	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
R8840:Btnl1	UTSW	17	34385603	missense	probably benign	0.17
R9120:Btnl1	UTSW	17	34379707	missense	possibly damaging	0.85
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'- AGGCCTCAAGATTGTGTCTTC -3'
(R):5'- TGGACAGTCAGAAACCAGCC -3'

Sequencing Primer
(F):5'- AAGATTGTGTCTTCTCTCCTCAGG -3'
(R):5'- GTCAGAAACCAGCCCGGAG -3'

Posted On

2022-07-18