Mutagenetix > Incidental Mutation

Incidental Mutation 'R9654:Btnl6'

727291

Institutional Source

Beutler Lab

Gene Symbol

Btnl6

Ensembl Gene

ENSMUSG00000092618

Gene Name

butyrophilin-like 6

Synonyms

Gm6519, NG13

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9654 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34726778-34736326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34733140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 241 (P241L)

Ref Sequence

ENSEMBL: ENSMUSP00000074927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075483]

AlphaFold

A2CG22

Predicted Effect

probably damaging
Transcript: ENSMUST00000075483
AA Change: P241L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: P241L

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	145	2.06e-5	SMART
SCOP:d1c5ch2	151	222	1e-2	SMART
Blast:IG_like	152	228	2e-23	BLAST
transmembrane domain	252	271	N/A	INTRINSIC
low complexity region	312	326	N/A	INTRINSIC
SPRY	384	509	1.23e-19	SMART
low complexity region	510	539	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,948,916 (GRCm39)	S938P	possibly damaging	Het
Abca17	G	T	17: 24,536,099 (GRCm39)	H523N	probably benign	Het
Alx1	T	A	10: 102,858,093 (GRCm39)	H202L	probably benign	Het
Amotl1	T	A	9: 14,462,981 (GRCm39)	H744L	probably benign	Het
Ankrd50	A	T	3: 38,511,018 (GRCm39)	S450T	probably benign	Het
Aoc1l1	T	C	6: 48,952,837 (GRCm39)	L254P	probably damaging	Het
Arhgef25	C	T	10: 127,021,955 (GRCm39)	S200N	probably damaging	Het
Arl4c	G	T	1: 88,629,361 (GRCm39)	S9*	probably null	Het
Bod1l	A	G	5: 41,975,707 (GRCm39)	M1869T	probably benign	Het
Cacng8	C	T	7: 3,443,002 (GRCm39)	R88W	probably damaging	Het
Ccdc154	C	T	17: 25,386,684 (GRCm39)	T262I	possibly damaging	Het
Clmn	C	A	12: 104,748,193 (GRCm39)	E451D	probably damaging	Het
Dnah14	A	T	1: 181,593,904 (GRCm39)	I3416L	probably benign	Het
Dnah17	A	G	11: 117,927,156 (GRCm39)		probably null	Het
Dnah3	T	A	7: 119,641,396 (GRCm39)	K1175*	probably null	Het
Dock8	C	T	19: 25,124,710 (GRCm39)	R1009W	probably damaging	Het
Fhip1a	G	T	3: 85,579,532 (GRCm39)	T891K	probably damaging	Het
Fkbp15	A	G	4: 62,230,553 (GRCm39)	V720A	probably benign	Het
Fryl	G	T	5: 73,275,801 (GRCm39)	P121Q	probably benign	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hbs1l	T	C	10: 21,183,604 (GRCm39)	V115A	possibly damaging	Het
Heatr5a	G	A	12: 52,005,778 (GRCm39)	P66S	probably damaging	Het
Hsd17b4	A	G	18: 50,272,533 (GRCm39)	D44G	probably benign	Het
Idh3a	T	C	9: 54,497,182 (GRCm39)	V41A	probably benign	Het
Itih1	T	A	14: 30,664,870 (GRCm39)	K37M	probably damaging	Het
Lama1	A	G	17: 68,101,266 (GRCm39)	T1920A		Het
Ltn1	G	C	16: 87,207,227 (GRCm39)	D904E	probably benign	Het
Map6	T	C	7: 98,986,166 (GRCm39)	I893T	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mr1	T	C	1: 155,013,430 (GRCm39)	H49R	possibly damaging	Het
Myh2	T	C	11: 67,088,171 (GRCm39)	V1929A	probably benign	Het
Ncoa4	C	A	14: 31,896,465 (GRCm39)	P230Q	probably benign	Het
Npy4r	T	A	14: 33,869,081 (GRCm39)	Q69L	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Nus1	T	G	10: 52,294,130 (GRCm39)	L98R	possibly damaging	Het
Or10ag55-ps1	C	T	2: 87,115,071 (GRCm39)	L146F	probably benign	Het
Or14c42-ps1	T	A	7: 86,210,950 (GRCm39)	N3K	unknown	Het
Or2w4	T	C	13: 21,795,915 (GRCm39)	T75A	possibly damaging	Het
Or4c11b	T	C	2: 88,625,263 (GRCm39)	L179S	probably damaging	Het
Or5k17	T	A	16: 58,746,752 (GRCm39)	I61F	probably benign	Het
Pcdha11	A	C	18: 37,145,333 (GRCm39)	T475P	probably damaging	Het
Pex5l	C	A	3: 33,010,827 (GRCm39)	A384S	probably benign	Het
Pgk2	T	A	17: 40,518,651 (GRCm39)	D259V	probably damaging	Het
Rhbdf1	T	C	11: 32,166,028 (GRCm39)	M52V	probably benign	Het
Rsph6a	T	A	7: 18,799,332 (GRCm39)	L321Q	probably damaging	Het
Sugp1	T	A	8: 70,522,656 (GRCm39)	M452K	probably damaging	Het
Sult2a6	T	G	7: 13,956,445 (GRCm39)	D272A	probably benign	Het
Tlr6	A	T	5: 65,112,697 (GRCm39)	L70Q	probably damaging	Het
Tmem178b	A	T	6: 40,222,534 (GRCm39)	Y83F	probably benign	Het
Tmprss4	C	T	9: 45,090,700 (GRCm39)		probably null	Het
Trpv4	A	G	5: 114,764,887 (GRCm39)	L709P	probably benign	Het
Utp15	G	A	13: 98,385,668 (GRCm39)	T519M	probably benign	Het
Vmn2r59	T	C	7: 41,693,217 (GRCm39)	N461S	probably benign	Het
Zap70	T	C	1: 36,818,327 (GRCm39)	V338A	probably benign	Het

Other mutations in Btnl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Btnl6	APN	17	34,733,017 (GRCm39)	missense	probably benign	0.00
IGL02501:Btnl6	APN	17	34,734,648 (GRCm39)	missense	possibly damaging	0.82
IGL02539:Btnl6	APN	17	34,727,288 (GRCm39)	missense	probably benign	0.00
IGL02629:Btnl6	APN	17	34,733,442 (GRCm39)	missense	probably damaging	1.00
IGL02724:Btnl6	APN	17	34,727,149 (GRCm39)	nonsense	probably null
IGL03366:Btnl6	APN	17	34,727,153 (GRCm39)	missense	probably damaging	1.00
R0013:Btnl6	UTSW	17	34,734,505 (GRCm39)	nonsense	probably null
R0025:Btnl6	UTSW	17	34,733,273 (GRCm39)	missense	probably benign	0.02
R0144:Btnl6	UTSW	17	34,732,994 (GRCm39)	missense	probably benign	0.29
R0255:Btnl6	UTSW	17	34,727,477 (GRCm39)	missense	probably benign	0.01
R1474:Btnl6	UTSW	17	34,732,620 (GRCm39)	missense	probably damaging	1.00
R1757:Btnl6	UTSW	17	34,733,062 (GRCm39)	missense	probably benign	0.09
R1838:Btnl6	UTSW	17	34,734,516 (GRCm39)	missense	probably damaging	0.99
R2149:Btnl6	UTSW	17	34,733,321 (GRCm39)	missense	possibly damaging	0.47
R2994:Btnl6	UTSW	17	34,734,498 (GRCm39)	missense	possibly damaging	0.82
R3441:Btnl6	UTSW	17	34,727,292 (GRCm39)	missense	probably benign	0.06
R3809:Btnl6	UTSW	17	34,727,202 (GRCm39)	missense	probably benign	0.00
R3936:Btnl6	UTSW	17	34,736,316 (GRCm39)	missense	probably benign
R4462:Btnl6	UTSW	17	34,727,031 (GRCm39)	missense	probably damaging	1.00
R4604:Btnl6	UTSW	17	34,727,435 (GRCm39)	missense	possibly damaging	0.91
R4618:Btnl6	UTSW	17	34,733,120 (GRCm39)	missense	probably damaging	0.98
R4832:Btnl6	UTSW	17	34,732,966 (GRCm39)	missense	possibly damaging	0.80
R5369:Btnl6	UTSW	17	34,726,959 (GRCm39)	nonsense	probably null
R5422:Btnl6	UTSW	17	34,733,081 (GRCm39)	missense	possibly damaging	0.93
R6046:Btnl6	UTSW	17	34,727,371 (GRCm39)	missense	probably damaging	1.00
R6170:Btnl6	UTSW	17	34,734,480 (GRCm39)	missense	probably damaging	0.99
R6385:Btnl6	UTSW	17	34,727,343 (GRCm39)	missense	probably benign	0.01
R8213:Btnl6	UTSW	17	34,727,857 (GRCm39)	splice site	probably null
R8676:Btnl6	UTSW	17	34,727,043 (GRCm39)	missense	probably benign	0.00
R8895:Btnl6	UTSW	17	34,734,391 (GRCm39)	missense	probably benign	0.01
R9665:Btnl6	UTSW	17	34,732,635 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACCTGTCCTTCACTGCTATGG -3'
(R):5'- AGCTCTGTGAGGAACGTCAC -3'

Sequencing Primer
(F):5'- GTGACTTACCAATAGTCCTCACAG -3'
(R):5'- TGTGAGGAACGTCACCTGCTC -3'

Posted On

2022-10-06