Mutagenetix > Incidental Mutation

Incidental Mutation 'R9656:Btnl9'

727337

Institutional Source

Beutler Lab

Gene Symbol

Btnl9

Ensembl Gene

ENSMUSG00000040283

Gene Name

butyrophilin-like 9

Synonyms

D330012D11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9656 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49059152-49077916 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49060008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 580 (D580G)

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: D495G

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: D495G

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 damaging
Transcript: ENSMUST00000066531
AA Change: D580G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: D580G

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

0.1206

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	G	A	8: 10,037,991 (GRCm39)	G196E	possibly damaging	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,922,061 (GRCm39)	T635I	possibly damaging	Het
Bbs10	T	A	10: 111,135,545 (GRCm39)	N219K	probably benign	Het
Bsn	T	A	9: 107,994,407 (GRCm39)	T623S	probably benign	Het
Cckar	A	G	5: 53,857,318 (GRCm39)	L364P	probably damaging	Het
Ccn5	A	G	2: 163,670,985 (GRCm39)	D164G	probably benign	Het
Cfap46	A	T	7: 139,235,816 (GRCm39)	M631K		Het
Col1a1	T	A	11: 94,839,372 (GRCm39)	S1006T	unknown	Het
Cpe	T	C	8: 65,047,980 (GRCm39)	Y428C	probably damaging	Het
Cyp2d26	C	A	15: 82,677,059 (GRCm39)	V122L	probably benign	Het
Fam114a1	T	C	5: 65,163,246 (GRCm39)	I181T	probably benign	Het
Fam83b	A	G	9: 76,452,863 (GRCm39)	V68A	probably benign	Het
Fanca	A	C	8: 124,031,482 (GRCm39)	V403G	probably benign	Het
Grin2a	T	C	16: 9,397,471 (GRCm39)	H872R	possibly damaging	Het
Grpel2	G	T	18: 61,859,361 (GRCm39)	R4S	probably benign	Het
Gstm1	T	C	3: 107,925,072 (GRCm39)	Y7C	probably damaging	Het
Hace1	A	T	10: 45,547,545 (GRCm39)	I497F	probably benign	Het
Hspg2	T	C	4: 137,279,196 (GRCm39)	V3093A	probably benign	Het
Ighv3-4	A	T	12: 114,217,295 (GRCm39)	F99I	possibly damaging	Het
Ints3	T	C	3: 90,299,839 (GRCm39)	M963V	probably null	Het
Krt12	T	C	11: 99,309,471 (GRCm39)	E263G		Het
L1td1	T	C	4: 98,622,223 (GRCm39)	F262L	probably benign	Het
Lrp2bp	A	G	8: 46,466,158 (GRCm39)	H110R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Ncoa6	A	G	2: 155,274,846 (GRCm39)	I135T	probably damaging	Het
Nfatc3	G	A	8: 106,830,766 (GRCm39)	R695H	probably damaging	Het
Nkx1-2	T	A	7: 132,201,228 (GRCm39)	K10*	probably null	Het
Or2t44	G	A	11: 58,677,635 (GRCm39)	A192T	possibly damaging	Het
Or4f54	A	T	2: 111,122,633 (GRCm39)	T7S	probably benign	Het
Or5b110-ps1	T	C	19: 13,260,035 (GRCm39)	H129R	possibly damaging	Het
Or5b21	A	G	19: 12,839,247 (GRCm39)	Y36C	probably damaging	Het
Otog	A	G	7: 45,959,567 (GRCm39)	T719A	probably damaging	Het
Prkdc	T	G	16: 15,617,818 (GRCm39)	I3216M	probably benign	Het
Pygm	A	G	19: 6,438,187 (GRCm39)	D252G	probably benign	Het
Rae1	T	A	2: 172,854,590 (GRCm39)	Y332*	probably null	Het
Rbm12	A	T	2: 155,940,121 (GRCm39)	D50E	unknown	Het
Rbm6	G	A	9: 107,656,778 (GRCm39)	R1000W	probably damaging	Het
Rd3l	A	T	12: 111,946,614 (GRCm39)	V54E	possibly damaging	Het
Rft1	T	C	14: 30,404,714 (GRCm39)	V370A	probably benign	Het
Rfx8	T	C	1: 39,709,679 (GRCm39)	I449M	probably benign	Het
Satb1	A	T	17: 52,112,264 (GRCm39)	S117T	possibly damaging	Het
Slc24a2	T	C	4: 86,968,144 (GRCm39)	Y370C	probably damaging	Het
Slc5a4b	C	A	10: 75,944,391 (GRCm39)	V85L	probably damaging	Het
Snrpn	A	T	7: 59,635,715 (GRCm39)	V95E	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Spata33	A	T	8: 123,948,758 (GRCm39)	N130I	possibly damaging	Het
Spmip2	T	A	3: 79,313,183 (GRCm39)	F86I	probably benign	Het
Tap1	A	G	17: 34,412,525 (GRCm39)	S521G	probably damaging	Het
Tbc1d13	C	T	2: 30,032,429 (GRCm39)	T180I	possibly damaging	Het
Tgm7	G	A	2: 120,940,191 (GRCm39)		probably benign	Het
Tiam1	A	G	16: 89,664,459 (GRCm39)	M583T	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn1r43	A	T	6: 89,847,440 (GRCm39)	H15Q	possibly damaging	Het
Zfp329	A	T	7: 12,544,417 (GRCm39)	V369E	probably damaging	Het
Zfp467	T	A	6: 48,419,603 (GRCm39)	E35V	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
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
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'- TGTCCAGGAGTTCAGGACAG -3'
(R):5'- AGGTCTCCAACAACGGCAAG -3'

Sequencing Primer
(F):5'- AGTTCAGGACAGTGCTTGGACC -3'
(R):5'- TGCCCAGTATTGCAGCTG -3'

Posted On

2022-10-06