Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Btnl9'

423850

Institutional Source

Beutler Lab

Gene Symbol

Btnl9

Ensembl Gene

ENSMUSG00000040283

Gene Name

butyrophilin-like 9

Synonyms

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49165585-49187159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49178840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 204 (N204S)

Ref Sequence

ENSEMBL: ENSMUSP00000066598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000066531] [ENSMUST00000153999]

AlphaFold

Q8BJE2

Predicted Effect

probably benign
Transcript: ENSMUST00000046522
AA Change: N204S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: N204S

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: N204S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: N204S

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: ENSMUST00000128462

Predicted Effect

probably benign
Transcript: ENSMUST00000153999

SMART Domains

Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283

Domain	Start	End	E-Value	Type
IG	44	151	1.24e-8	SMART
transmembrane domain	165	187	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,618,701	L206*	probably null	Het
Adgrv1	T	C	13: 81,494,657	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,473,746	T41M	probably damaging	Het
Akap6	A	T	12: 52,796,097	E76V	probably damaging	Het
Ank2	C	A	3: 127,498,991		probably benign	Het
Atp6ap1l	A	C	13: 90,883,756	L269R	probably damaging	Het
Blk	A	G	14: 63,375,971	S363P	probably damaging	Het
Cc2d2a	G	T	5: 43,706,213	W672C	probably damaging	Het
Ccnf	A	G	17: 24,243,273		probably null	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Chst1	A	G	2: 92,613,365	T61A	possibly damaging	Het
Col6a4	G	A	9: 106,061,544	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,961,411	T976P	unknown	Het
Corin	C	T	5: 72,305,033	S811N	probably benign	Het
Dnal1	T	C	12: 84,136,548	V27A	possibly damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,472,901	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,318	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,334,079	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,752,162		noncoding transcript	Het
Gm27047	G	A	6: 130,631,019		noncoding transcript	Het
Grm5	A	G	7: 88,074,850	I783V	probably damaging	Het
Hk1	A	T	10: 62,304,770	S113T	probably damaging	Het
Iqca	A	T	1: 90,130,196	N260K	probably benign	Het
Iws1	A	T	18: 32,083,404	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,464,358	I68T	probably damaging	Het
Man2a1	T	C	17: 64,731,246	I75T	probably damaging	Het
Med13	T	A	11: 86,301,468	I824L	possibly damaging	Het
Meioc	A	T	11: 102,675,313	E585V	probably benign	Het
Mrgpre	A	C	7: 143,781,094	F224C	probably damaging	Het
Muc5b	T	A	7: 141,864,558	F3747Y	possibly damaging	Het
Nlrp4e	T	C	7: 23,353,173	V839A	probably benign	Het
Nup210	A	T	6: 91,069,316	V545E	probably damaging	Het
Ola1	T	C	2: 73,099,330	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,840,311	N516S	probably benign	Het
Phlpp1	A	G	1: 106,172,725	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,428,083	V85A	probably damaging	Het
Rasa3	A	C	8: 13,631,778	L57R	possibly damaging	Het
Rp1	T	C	1: 4,347,098	S1264G	probably benign	Het
Rprd1b	A	G	2: 158,058,736	E247G	probably damaging	Het
Sag	G	T	1: 87,812,993	V46L	probably benign	Het
Sat2	A	T	11: 69,622,315	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,601,036	Y199N	probably benign	Het
Slc9a3r2	C	T	17: 24,642,255	R66H	probably damaging	Het
Snx2	A	G	18: 53,197,925		probably null	Het
Thbs4	T	C	13: 92,763,590	D466G	probably damaging	Het
Tmem208	A	G	8: 105,328,431	D91G	probably damaging	Het
Tmf1	A	G	6: 97,176,809	L101P	probably damaging	Het
Tnni1	A	G	1: 135,805,592	T51A	probably benign	Het
Tor3a	T	G	1: 156,674,193	E38A	probably damaging	Het
Trim31	T	A	17: 36,899,918	D147E	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Vmn1r48	G	T	6: 90,036,147	A232E	probably benign	Het
Vmn1r89	T	G	7: 13,219,357	F7V	probably benign	Het
Zfp160	A	G	17: 21,026,852	T555A	probably benign	Het
Zfp981	C	A	4: 146,537,005	T129K	probably benign	Het
Zfpm2	T	A	15: 40,870,542	F106I	probably benign	Het

Other mutations in Btnl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Btnl9	APN	11	49175691	missense	probably damaging	1.00
IGL01923:Btnl9	APN	11	49180582	missense	probably benign	0.00
IGL02129:Btnl9	APN	11	49169273	missense	probably damaging	1.00
IGL02248:Btnl9	APN	11	49180798	missense	probably benign	0.27
IGL02795:Btnl9	APN	11	49174867	splice site	probably benign
IGL02889:Btnl9	APN	11	49178777	missense	probably damaging	1.00
IGL02796:Btnl9	UTSW	11	49169181	missense	probably damaging	0.99
R0084:Btnl9	UTSW	11	49178779	missense	possibly damaging	0.91
R0362:Btnl9	UTSW	11	49169616	missense	possibly damaging	0.73
R0417:Btnl9	UTSW	11	49175595	missense	probably damaging	1.00
R1199:Btnl9	UTSW	11	49180747	missense	probably damaging	1.00
R1260:Btnl9	UTSW	11	49169544	missense	probably damaging	0.98
R1802:Btnl9	UTSW	11	49175790	missense	probably benign	0.06
R2000:Btnl9	UTSW	11	49169121	missense	probably benign	0.04
R2068:Btnl9	UTSW	11	49169563	missense	probably damaging	0.98
R2130:Btnl9	UTSW	11	49180696	missense	probably damaging	0.99
R2142:Btnl9	UTSW	11	49170626	splice site	probably null
R2229:Btnl9	UTSW	11	49169118	missense	probably damaging	1.00
R2255:Btnl9	UTSW	11	49169316	nonsense	probably null
R2386:Btnl9	UTSW	11	49178775	missense	probably damaging	1.00
R3177:Btnl9	UTSW	11	49169676	missense	probably damaging	1.00
R3277:Btnl9	UTSW	11	49169676	missense	probably damaging	1.00
R3835:Btnl9	UTSW	11	49180685	missense	probably damaging	1.00
R5287:Btnl9	UTSW	11	49169607	missense	probably benign	0.20
R5433:Btnl9	UTSW	11	49176003	intron	probably benign
R5490:Btnl9	UTSW	11	49169568	missense	probably damaging	1.00
R5576:Btnl9	UTSW	11	49178885	missense	probably benign	0.00
R6008:Btnl9	UTSW	11	49182965	critical splice donor site	probably null
R6770:Btnl9	UTSW	11	49175565	splice site	probably null
R7126:Btnl9	UTSW	11	49169255	missense	probably damaging	1.00
R7276:Btnl9	UTSW	11	49175790	missense	probably benign	0.06
R7787:Btnl9	UTSW	11	49176039	missense	unknown
R7923:Btnl9	UTSW	11	49180738	missense	probably damaging	0.97
R8050:Btnl9	UTSW	11	49175615	missense	probably benign	0.25
R8558:Btnl9	UTSW	11	49180792	missense	probably benign	0.00
R8788:Btnl9	UTSW	11	49175787	missense	probably benign	0.03
R8945:Btnl9	UTSW	11	49174834	missense	probably benign	0.38
R9105:Btnl9	UTSW	11	49175634	missense	probably benign	0.29
R9656:Btnl9	UTSW	11	49169181	missense	probably damaging	0.99
X0026:Btnl9	UTSW	11	49169241	missense	probably damaging	1.00
Z1192:Btnl9	UTSW	11	49175978	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCTGGGCGAATCAACATGG -3'
(R):5'- GGAATTTTATGCATGGTGAGCC -3'

Sequencing Primer
(F):5'- GCGAATCAACATGGAGCTTTTG -3'
(R):5'- ATGCATGGTGAGCCTGATC -3'

Posted On

2016-08-04