Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Btnl9'

259173

Institutional Source

Beutler Lab

Gene Symbol

Btnl9

Ensembl Gene

ENSMUSG00000040283

Gene Name

butyrophilin-like 9

Synonyms

D330012D11Rik

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

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

Stock #

R3177 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49059152-49077916 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49060503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

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: D330G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: D330G

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

SMART Domains

Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283

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: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,613 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,143,928 (GRCm39)		noncoding transcript	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	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
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
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

Posted On

2015-01-23