Mutagenetix > Incidental Mutation

Incidental Mutation 'RF041:Btnl1'

604839

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

LOC240074, Btnl3, NG10, LOC240074

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF041 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34596106-34605002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34600342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 246 (T246M)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

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

AlphaFold

Q7TST0

Predicted Effect

probably benign
Transcript: ENSMUST00000080254
AA Change: T246M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: T246M

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,928,050 (GRCm39)		probably benign	Het
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,529,836 (GRCm39)		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,857 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,529,855 (GRCm39)		probably benign	Het
Abcf1	CTCTTC	CTC	17: 36,274,093 (GRCm39)		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,989,557 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,257 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGTGG	17: 5,045,870 (GRCm39)		probably benign	Het
AY761185	CACTGTGGG	C	8: 21,433,928 (GRCm39)		probably null	Het
Cdc40	C	T	10: 40,719,119 (GRCm39)	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,780 (GRCm39)		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,327,743 (GRCm39)		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,466,598 (GRCm39)		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,981,135 (GRCm39)		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,981,151 (GRCm39)		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 71,313,655 (GRCm39)		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,179,991 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,447,812 (GRCm39)		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,520,773 (GRCm39)		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 92,925,448 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,435 (GRCm39)		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,183,406 (GRCm39)		probably benign	Het
Med12l	GC	GCACC	3: 59,183,416 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)		probably null	Het
Ngfr	CAGG	C	11: 95,478,337 (GRCm39)		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)		probably null	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,458,074 (GRCm39)		probably benign	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,384,504 (GRCm39)		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,721,307 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,608,421 (GRCm39)		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,966,648 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,025 (GRCm39)		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338 (GRCm39)		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,371,187 (GRCm39)		unknown	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
R9120:Btnl1	UTSW	17	34,598,681 (GRCm39)	missense	possibly damaging	0.85
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
X0026:Btnl1	UTSW	17	34,596,906 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCAATGTGATCTGCTCCATC -3'
(R):5'- ATGCTGCTGTCCCCACATATAC -3'

Sequencing Primer
(F):5'- ATGTGATCTGCTCCATCCAAAATC -3'
(R):5'- ACCTCTGATCTTCAGTACAGATTTTG -3'

Posted On

2019-12-04