Mutagenetix > Incidental Mutation

Incidental Mutation 'R1260:Btnl9'

151581

Institutional Source

Beutler Lab

Gene Symbol

Btnl9

Ensembl Gene

ENSMUSG00000040283

Gene Name

butyrophilin-like 9

Synonyms

D330012D11Rik

MMRRC Submission

039327-MU

Accession Numbers

Essential gene?

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

Stock #

R1260 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

49059152-49077916 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49060371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 374 (E374G)

Ref Sequence

ENSEMBL: ENSMUSP00000046229 (fasta)

Gene Model

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

AlphaFold

Q8BJE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046522
AA Change: E374G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: E374G

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

possibly damaging
Transcript: ENSMUST00000066531
AA Change: E459G

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: E459G

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Car2	G	A	3: 14,960,640 (GRCm39)	A133T	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cpa6	T	C	1: 10,395,544 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,021,330 (GRCm39)	H462R	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Med7	C	G	11: 46,331,460 (GRCm39)	I18M	probably damaging	Het
Mertk	A	G	2: 128,604,072 (GRCm39)	K402R	probably benign	Het
Myh7	T	A	14: 55,225,908 (GRCm39)	I478F	probably benign	Het
Or14j10	T	A	17: 37,934,594 (GRCm39)	T311S	probably benign	Het
Pdp2	T	C	8: 105,321,249 (GRCm39)	V366A	probably damaging	Het
Plin4	A	T	17: 56,411,348 (GRCm39)	C894*	probably null	Het
Plxnc1	A	G	10: 94,667,227 (GRCm39)	V1149A	probably damaging	Het
Rassf9	G	A	10: 102,348,446 (GRCm39)		probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Stab1	T	C	14: 30,873,846 (GRCm39)	D984G	probably damaging	Het
Usp45	T	C	4: 21,826,204 (GRCm39)	S675P	probably 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
R1802:Btnl9	UTSW	11	49,066,617 (GRCm39)	missense	probably benign	0.06
R2000:Btnl9	UTSW	11	49,059,948 (GRCm39)	missense	probably benign	0.04
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'- ACGTTGAAGAAAGACAGCTTCCCG -3'
(R):5'- GAGTGTGATACCACCAGTTGCTCC -3'

Sequencing Primer
(F):5'- TCGTAGTCCAACAGGACGC -3'
(R):5'- gggaggtggagggaagtag -3'

Posted On

2014-01-29