Mutagenetix > Incidental Mutation

Incidental Mutation 'R2000:Btnl9'

225849

Institutional Source

Beutler Lab

Gene Symbol

Btnl9

Ensembl Gene

ENSMUSG00000040283

Gene Name

butyrophilin-like 9

Synonyms

D330012D11Rik

MMRRC Submission

040010-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49059152-49077916 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49059948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 600 (N600S)

Ref Sequence

ENSEMBL: ENSMUSP00000066598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000066531]

AlphaFold

Q8BJE2

Predicted Effect

probably benign
Transcript: ENSMUST00000046522
AA Change: N515S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: N515S

Domain	Start	End	E-Value	Type
IG	44	151	1.24e-8	SMART
Pfam:Ig_2	155	243	9.2e-3	PFAM
Pfam:C2-set_2	156	238	1.7e-9	PFAM
transmembrane domain	259	281	N/A	INTRINSIC
PRY	324	377	8.68e-14	SMART
SPRY	378	503	1.3e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066531
AA Change: N600S

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

SMART Domains

Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: N600S

Domain	Start	End	E-Value	Type
IG	44	151	1.24e-8	SMART
Pfam:Ig_3	155	231	1e-4	PFAM
Pfam:C2-set_2	156	238	2.2e-6	PFAM
transmembrane domain	360	382	N/A	INTRINSIC
PRY	419	462	3.61e-2	SMART
SPRY	463	588	1.3e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131363

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,693,584 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,777,508 (GRCm39)	Y186H	probably damaging	Het
Birc6	T	C	17: 74,911,614 (GRCm39)	V1528A	possibly damaging	Het
Brpf3	A	C	17: 29,040,531 (GRCm39)	E984A	probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874 (GRCm39)	L136H	probably damaging	Het
Cd46	A	G	1: 194,760,012 (GRCm39)	I280T	probably benign	Het
Cip2a	A	T	16: 48,835,332 (GRCm39)	Q699L	probably damaging	Het
Crebbp	A	T	16: 3,902,116 (GRCm39)	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,870,160 (GRCm39)		probably benign	Het
Dph7	T	A	2: 24,861,653 (GRCm39)	D355E	probably benign	Het
Dync1li1	C	A	9: 114,542,631 (GRCm39)	F264L	probably benign	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Fosl1	A	G	19: 5,500,383 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,084,400 (GRCm39)	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113 (GRCm39)	F14S	probably benign	Het
Gm15446	T	C	5: 110,090,677 (GRCm39)	S310P	possibly damaging	Het
Gmppa	A	C	1: 75,418,172 (GRCm39)	D190A	probably damaging	Het
Gpr108	C	T	17: 57,543,712 (GRCm39)	G455S	probably benign	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Gvin-ps6	G	A	7: 106,022,438 (GRCm39)	S188L	probably benign	Het
Gzf1	T	C	2: 148,526,531 (GRCm39)	I334T	probably benign	Het
Hadh	A	T	3: 131,038,888 (GRCm39)	I156K	probably benign	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Ice1	C	T	13: 70,750,546 (GRCm39)	V47M	possibly damaging	Het
Ifnl3	G	T	7: 28,222,354 (GRCm39)	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,716,176 (GRCm39)	Y978*	probably null	Het
Kif1a	G	T	1: 92,982,051 (GRCm39)	T792N	probably damaging	Het
Lgals9	T	C	11: 78,863,996 (GRCm39)	N50D	probably benign	Het
Lrp2	A	G	2: 69,297,434 (GRCm39)	Y3176H	probably damaging	Het
Lvrn	A	T	18: 47,038,374 (GRCm39)	N976I	probably benign	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Myo1c	A	T	11: 75,561,405 (GRCm39)	M820L	probably damaging	Het
Neb	A	T	2: 52,102,982 (GRCm39)	C4222*	probably null	Het
Nkain2	T	A	10: 32,766,281 (GRCm39)		probably benign	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Pnma8a	T	A	7: 16,694,964 (GRCm39)	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,887,446 (GRCm39)	E486G	probably damaging	Het
Pth2	C	A	7: 44,831,146 (GRCm39)	R98S	possibly damaging	Het
Ramacl	A	T	13: 67,056,214 (GRCm39)	N69I	possibly damaging	Het
Rif1	T	A	2: 51,971,310 (GRCm39)	F263I	probably damaging	Het
Rnf213	A	T	11: 119,326,848 (GRCm39)	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,560,321 (GRCm39)	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,176,206 (GRCm39)	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,050,200 (GRCm39)	E273G	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttf1	T	A	2: 28,955,197 (GRCm39)	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,293,166 (GRCm39)		probably null	Het
Uox	A	C	3: 146,316,154 (GRCm39)	K30Q	possibly damaging	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Wwc1	A	T	11: 35,767,374 (GRCm39)	L419Q	probably damaging	Het
Xrn1	C	T	9: 95,927,616 (GRCm39)	Q1463*	probably null	Het
Yeats2	G	A	16: 20,005,141 (GRCm39)	A393T	probably benign	Het
Zfp101	C	T	17: 33,600,491 (GRCm39)	A422T	possibly damaging	Het

Other mutations in Btnl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Btnl9	APN	11	49,066,518 (GRCm39)	missense	probably damaging	1.00
IGL01923:Btnl9	APN	11	49,071,409 (GRCm39)	missense	probably benign	0.00
IGL02129:Btnl9	APN	11	49,060,100 (GRCm39)	missense	probably damaging	1.00
IGL02248:Btnl9	APN	11	49,071,625 (GRCm39)	missense	probably benign	0.27
IGL02795:Btnl9	APN	11	49,065,694 (GRCm39)	splice site	probably benign
IGL02889:Btnl9	APN	11	49,069,604 (GRCm39)	missense	probably damaging	1.00
IGL02796:Btnl9	UTSW	11	49,060,008 (GRCm39)	missense	probably damaging	0.99
R0084:Btnl9	UTSW	11	49,069,606 (GRCm39)	missense	possibly damaging	0.91
R0362:Btnl9	UTSW	11	49,060,443 (GRCm39)	missense	possibly damaging	0.73
R0417:Btnl9	UTSW	11	49,066,422 (GRCm39)	missense	probably damaging	1.00
R1199:Btnl9	UTSW	11	49,071,574 (GRCm39)	missense	probably damaging	1.00
R1260:Btnl9	UTSW	11	49,060,371 (GRCm39)	missense	probably damaging	0.98
R1802:Btnl9	UTSW	11	49,066,617 (GRCm39)	missense	probably benign	0.06
R2068:Btnl9	UTSW	11	49,060,390 (GRCm39)	missense	probably damaging	0.98
R2130:Btnl9	UTSW	11	49,071,523 (GRCm39)	missense	probably damaging	0.99
R2142:Btnl9	UTSW	11	49,061,453 (GRCm39)	splice site	probably null
R2229:Btnl9	UTSW	11	49,059,945 (GRCm39)	missense	probably damaging	1.00
R2255:Btnl9	UTSW	11	49,060,143 (GRCm39)	nonsense	probably null
R2386:Btnl9	UTSW	11	49,069,602 (GRCm39)	missense	probably damaging	1.00
R3177:Btnl9	UTSW	11	49,060,503 (GRCm39)	missense	probably damaging	1.00
R3277:Btnl9	UTSW	11	49,060,503 (GRCm39)	missense	probably damaging	1.00
R3835:Btnl9	UTSW	11	49,071,512 (GRCm39)	missense	probably damaging	1.00
R5287:Btnl9	UTSW	11	49,060,434 (GRCm39)	missense	probably benign	0.20
R5352:Btnl9	UTSW	11	49,069,667 (GRCm39)	missense	probably benign	0.01
R5433:Btnl9	UTSW	11	49,066,830 (GRCm39)	intron	probably benign
R5490:Btnl9	UTSW	11	49,060,395 (GRCm39)	missense	probably damaging	1.00
R5576:Btnl9	UTSW	11	49,069,712 (GRCm39)	missense	probably benign	0.00
R6008:Btnl9	UTSW	11	49,073,792 (GRCm39)	critical splice donor site	probably null
R6770:Btnl9	UTSW	11	49,066,392 (GRCm39)	splice site	probably null
R7126:Btnl9	UTSW	11	49,060,082 (GRCm39)	missense	probably damaging	1.00
R7276:Btnl9	UTSW	11	49,066,617 (GRCm39)	missense	probably benign	0.06
R7787:Btnl9	UTSW	11	49,066,866 (GRCm39)	missense	unknown
R7923:Btnl9	UTSW	11	49,071,565 (GRCm39)	missense	probably damaging	0.97
R8050:Btnl9	UTSW	11	49,066,442 (GRCm39)	missense	probably benign	0.25
R8558:Btnl9	UTSW	11	49,071,619 (GRCm39)	missense	probably benign	0.00
R8788:Btnl9	UTSW	11	49,066,614 (GRCm39)	missense	probably benign	0.03
R8945:Btnl9	UTSW	11	49,065,661 (GRCm39)	missense	probably benign	0.38
R9105:Btnl9	UTSW	11	49,066,461 (GRCm39)	missense	probably benign	0.29
R9656:Btnl9	UTSW	11	49,060,008 (GRCm39)	missense	probably damaging	0.99
X0026:Btnl9	UTSW	11	49,060,068 (GRCm39)	missense	probably damaging	1.00
Z1192:Btnl9	UTSW	11	49,066,805 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCAAAGGTGAACTCATTGC -3'
(R):5'- TTCTTCAACGTGTCTGATGGC -3'

Sequencing Primer
(F):5'- GCCAAAGGTGAACTCATTGCTTATG -3'
(R):5'- GATGGCTCGCACATCTTCAG -3'

Posted On

2014-08-25