Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Btnl10'

258276

Institutional Source

Beutler Lab

Gene Symbol

Btnl10

Ensembl Gene

ENSMUSG00000020490

Gene Name

butyrophilin-like 10

Synonyms

Butr1, BUTR-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58917908-58927158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58922390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 282 (K282E)

Ref Sequence

ENSEMBL: ENSMUSP00000124234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020792] [ENSMUST00000069941] [ENSMUST00000108818] [ENSMUST00000142499]

AlphaFold

Q9JK39

Predicted Effect

probably benign
Transcript: ENSMUST00000020792

SMART Domains

Protein: ENSMUSP00000020792
Gene: ENSMUSG00000020490

Domain	Start	End	E-Value	Type
IGv	49	130	2.62e-7	SMART
Pfam:C2-set_2	150	233	3.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069941
AA Change: K282E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
AA Change: K282E

Domain	Start	End	E-Value	Type
IGv	49	130	2.62e-7	SMART
Pfam:C2-set_2	150	233	5.5e-7	PFAM
PRY	300	352	1.11e-11	SMART
SPRY	353	474	6.55e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108818

SMART Domains

Protein: ENSMUSP00000104446
Gene: ENSMUSG00000020490

Domain	Start	End	E-Value	Type
IGv	49	130	2.62e-7	SMART
Pfam:C2-set_2	150	233	3.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142499
AA Change: K282E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
AA Change: K282E

Domain	Start	End	E-Value	Type
IGv	49	130	2.62e-7	SMART
Pfam:C2-set_2	151	233	1e-8	PFAM
PRY	300	352	1.11e-11	SMART
SPRY	353	474	6.55e-24	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Btnl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Btnl10	APN	11	58919315	missense	probably damaging	0.98
IGL03368:Btnl10	APN	11	58919386	missense	possibly damaging	0.61
FR4304:Btnl10	UTSW	11	58923930	small insertion	probably benign
FR4449:Btnl10	UTSW	11	58923928	small insertion	probably benign
FR4589:Btnl10	UTSW	11	58923929	small insertion	probably benign
FR4737:Btnl10	UTSW	11	58923931	small insertion	probably benign
FR4976:Btnl10	UTSW	11	58923929	small insertion	probably benign
R0420:Btnl10	UTSW	11	58923451	missense	probably damaging	1.00
R1875:Btnl10	UTSW	11	58923760	missense	probably damaging	0.97
R1908:Btnl10	UTSW	11	58920541	missense	possibly damaging	0.74
R3176:Btnl10	UTSW	11	58922390	missense	probably benign	0.00
R3177:Btnl10	UTSW	11	58922390	missense	probably benign	0.00
R3276:Btnl10	UTSW	11	58922390	missense	probably benign	0.00
R4600:Btnl10	UTSW	11	58923600	missense	probably benign	0.01
R4611:Btnl10	UTSW	11	58920357	missense	probably damaging	1.00
R5447:Btnl10	UTSW	11	58922318	missense	probably benign	0.13
R5484:Btnl10	UTSW	11	58923825	missense	probably damaging	0.98
R5787:Btnl10	UTSW	11	58920343	missense	probably damaging	1.00
R5824:Btnl10	UTSW	11	58923440	missense	probably benign	0.05
R5859:Btnl10	UTSW	11	58922312	missense	probably benign	0.10
R6109:Btnl10	UTSW	11	58920304	missense	probably damaging	0.98
R6123:Btnl10	UTSW	11	58920304	missense	probably damaging	0.98
R6318:Btnl10	UTSW	11	58926865	utr 3 prime	probably benign
R7064:Btnl10	UTSW	11	58919308	missense	possibly damaging	0.74
R7083:Btnl10	UTSW	11	58919137	missense	probably damaging	1.00
R7152:Btnl10	UTSW	11	58922397	missense	probably benign
R7393:Btnl10	UTSW	11	58923706	missense	probably damaging	1.00
R7507:Btnl10	UTSW	11	58920558	missense	probably benign	0.05
R7893:Btnl10	UTSW	11	58923809	missense	probably benign	0.01
R8485:Btnl10	UTSW	11	58920316	missense	possibly damaging	0.92
R8529:Btnl10	UTSW	11	58922412	missense	probably benign	0.00
R8909:Btnl10	UTSW	11	58922372	missense	probably benign	0.00
R9205:Btnl10	UTSW	11	58920519	missense	probably damaging	1.00
R9564:Btnl10	UTSW	11	58922363	missense	probably benign	0.13
R9565:Btnl10	UTSW	11	58922363	missense	probably benign	0.13
R9675:Btnl10	UTSW	11	58923616	missense	probably damaging	1.00
RF018:Btnl10	UTSW	11	58923926	small insertion	probably benign
RF043:Btnl10	UTSW	11	58923926	small insertion	probably benign
X0064:Btnl10	UTSW	11	58923610	missense	probably damaging	1.00
Z1186:Btnl10	UTSW	11	58919312	missense	probably benign
Z1186:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1186:Btnl10	UTSW	11	58926824	missense	unknown
Z1187:Btnl10	UTSW	11	58919312	missense	probably benign
Z1187:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1187:Btnl10	UTSW	11	58923929	small insertion	probably benign
Z1187:Btnl10	UTSW	11	58926824	missense	unknown
Z1188:Btnl10	UTSW	11	58919312	missense	probably benign
Z1188:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1188:Btnl10	UTSW	11	58926824	missense	unknown
Z1189:Btnl10	UTSW	11	58919312	missense	probably benign
Z1189:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1189:Btnl10	UTSW	11	58926824	missense	unknown
Z1190:Btnl10	UTSW	11	58919312	missense	probably benign
Z1190:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1190:Btnl10	UTSW	11	58926824	missense	unknown
Z1191:Btnl10	UTSW	11	58919312	missense	probably benign
Z1191:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1191:Btnl10	UTSW	11	58923929	small insertion	probably benign
Z1191:Btnl10	UTSW	11	58926824	missense	unknown
Z1192:Btnl10	UTSW	11	58919312	missense	probably benign
Z1192:Btnl10	UTSW	11	58923927	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58923928	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58923931	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58926824	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGTGTACGAGTGTCTAACAAAG -3'
(R):5'- TTGACCAAGGACTCTCTCGG -3'

Sequencing Primer
(F):5'- GTCTAACAAAGACGATCCCCTCCTG -3'
(R):5'- CAAGGACTCTCTCGGTGGTGAAG -3'

Posted On

2015-01-23