Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02033:Btnl10'

184433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btnl10

Ensembl Gene

ENSMUSG00000020490

Gene Name

butyrophilin-like 10

Synonyms

BUTR-1, Butr1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02033

Quality Score

Status

Chromosome

Chromosomal Location

58808703-58817791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58810141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

Ref Sequence

ENSEMBL: ENSMUSP00000124234 (fasta)

Gene Model

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

AlphaFold

Q9JK39

Predicted Effect

probably damaging
Transcript: ENSMUST00000020792
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020792
Gene: ENSMUSG00000020490
AA Change: E94G

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 damaging
Transcript: ENSMUST00000069941
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
AA Change: E94G

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 damaging
Transcript: ENSMUST00000108818
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104446
Gene: ENSMUSG00000020490
AA Change: E94G

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 damaging
Transcript: ENSMUST00000142499
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
AA Change: E94G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,407,995 (GRCm39)	F107L	possibly damaging	Het
Adam30	G	T	3: 98,068,787 (GRCm39)	V79F	probably benign	Het
Akap8l	T	C	17: 32,557,246 (GRCm39)	R122G	probably damaging	Het
Apc	T	A	18: 34,443,772 (GRCm39)	S570R	probably damaging	Het
Col25a1	A	T	3: 130,182,597 (GRCm39)		probably benign	Het
Cubn	A	C	2: 13,344,657 (GRCm39)	I2208S	probably damaging	Het
Cyp17a1	A	T	19: 46,661,046 (GRCm39)	Y79*	probably null	Het
Dach1	T	A	14: 98,138,865 (GRCm39)	H474L	possibly damaging	Het
Dnai4	G	T	4: 102,923,490 (GRCm39)	N123K	possibly damaging	Het
Dscaml1	A	T	9: 45,595,080 (GRCm39)	I728F	probably damaging	Het
Erp29	G	T	5: 121,590,305 (GRCm39)	S33R	probably benign	Het
Fat3	A	C	9: 15,826,648 (GRCm39)	S4435A	possibly damaging	Het
Fbxw13	T	C	9: 109,010,484 (GRCm39)	I385V	probably damaging	Het
Hspg2	T	C	4: 137,279,565 (GRCm39)	M3160T	probably benign	Het
Lrrc28	C	T	7: 67,209,605 (GRCm39)		probably null	Het
Myh15	T	C	16: 48,965,707 (GRCm39)	V1204A	probably benign	Het
Or5b104	T	C	19: 13,072,221 (GRCm39)	S91G	possibly damaging	Het
Pcare	T	A	17: 72,058,076 (GRCm39)	I534F	probably damaging	Het
Pde5a	G	A	3: 122,596,710 (GRCm39)	E434K	possibly damaging	Het
Pgr	T	A	9: 8,965,111 (GRCm39)	V753E	probably damaging	Het
Pik3c3	T	A	18: 30,445,703 (GRCm39)	S563R	possibly damaging	Het
Ppt2	A	G	17: 34,844,728 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,331,619 (GRCm39)		probably benign	Het
Pygo1	G	T	9: 72,852,683 (GRCm39)	S290I	possibly damaging	Het
Ralgapa1	G	T	12: 55,689,262 (GRCm39)	H1946N	possibly damaging	Het
Rap1gds1	A	G	3: 138,661,232 (GRCm39)		probably benign	Het
Sema4g	G	A	19: 44,985,854 (GRCm39)	R256H	probably damaging	Het
Slc22a12	T	G	19: 6,587,844 (GRCm39)	D370A	probably benign	Het
Spata16	G	A	3: 26,967,483 (GRCm39)		probably null	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpv6	A	T	6: 41,604,551 (GRCm39)		probably benign	Het
Vwa8	T	G	14: 79,221,649 (GRCm39)	L535R	possibly damaging	Het

Other mutations in Btnl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03368:Btnl10	APN	11	58,810,212 (GRCm39)	missense	possibly damaging	0.61
FR4304:Btnl10	UTSW	11	58,814,756 (GRCm39)	small insertion	probably benign
FR4449:Btnl10	UTSW	11	58,814,754 (GRCm39)	small insertion	probably benign
FR4589:Btnl10	UTSW	11	58,814,755 (GRCm39)	small insertion	probably benign
FR4737:Btnl10	UTSW	11	58,814,757 (GRCm39)	small insertion	probably benign
FR4976:Btnl10	UTSW	11	58,814,755 (GRCm39)	small insertion	probably benign
R0420:Btnl10	UTSW	11	58,814,277 (GRCm39)	missense	probably damaging	1.00
R1875:Btnl10	UTSW	11	58,814,586 (GRCm39)	missense	probably damaging	0.97
R1908:Btnl10	UTSW	11	58,811,367 (GRCm39)	missense	possibly damaging	0.74
R3176:Btnl10	UTSW	11	58,813,216 (GRCm39)	missense	probably benign	0.00
R3177:Btnl10	UTSW	11	58,813,216 (GRCm39)	missense	probably benign	0.00
R3276:Btnl10	UTSW	11	58,813,216 (GRCm39)	missense	probably benign	0.00
R3277:Btnl10	UTSW	11	58,813,216 (GRCm39)	missense	probably benign	0.00
R4600:Btnl10	UTSW	11	58,814,426 (GRCm39)	missense	probably benign	0.01
R4611:Btnl10	UTSW	11	58,811,183 (GRCm39)	missense	probably damaging	1.00
R5447:Btnl10	UTSW	11	58,813,144 (GRCm39)	missense	probably benign	0.13
R5484:Btnl10	UTSW	11	58,814,651 (GRCm39)	missense	probably damaging	0.98
R5787:Btnl10	UTSW	11	58,811,169 (GRCm39)	missense	probably damaging	1.00
R5824:Btnl10	UTSW	11	58,814,266 (GRCm39)	missense	probably benign	0.05
R5859:Btnl10	UTSW	11	58,813,138 (GRCm39)	missense	probably benign	0.10
R6109:Btnl10	UTSW	11	58,811,130 (GRCm39)	missense	probably damaging	0.98
R6123:Btnl10	UTSW	11	58,811,130 (GRCm39)	missense	probably damaging	0.98
R6318:Btnl10	UTSW	11	58,817,691 (GRCm39)	utr 3 prime	probably benign
R7064:Btnl10	UTSW	11	58,810,134 (GRCm39)	missense	possibly damaging	0.74
R7083:Btnl10	UTSW	11	58,809,963 (GRCm39)	missense	probably damaging	1.00
R7152:Btnl10	UTSW	11	58,813,223 (GRCm39)	missense	probably benign
R7393:Btnl10	UTSW	11	58,814,532 (GRCm39)	missense	probably damaging	1.00
R7507:Btnl10	UTSW	11	58,811,384 (GRCm39)	missense	probably benign	0.05
R7893:Btnl10	UTSW	11	58,814,635 (GRCm39)	missense	probably benign	0.01
R8485:Btnl10	UTSW	11	58,811,142 (GRCm39)	missense	possibly damaging	0.92
R8529:Btnl10	UTSW	11	58,813,238 (GRCm39)	missense	probably benign	0.00
R8909:Btnl10	UTSW	11	58,813,198 (GRCm39)	missense	probably benign	0.00
R9205:Btnl10	UTSW	11	58,811,345 (GRCm39)	missense	probably damaging	1.00
R9564:Btnl10	UTSW	11	58,813,189 (GRCm39)	missense	probably benign	0.13
R9565:Btnl10	UTSW	11	58,813,189 (GRCm39)	missense	probably benign	0.13
R9675:Btnl10	UTSW	11	58,814,442 (GRCm39)	missense	probably damaging	1.00
RF018:Btnl10	UTSW	11	58,814,752 (GRCm39)	small insertion	probably benign
RF043:Btnl10	UTSW	11	58,814,752 (GRCm39)	small insertion	probably benign
X0064:Btnl10	UTSW	11	58,814,436 (GRCm39)	missense	probably damaging	1.00
Z1186:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1186:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1186:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1187:Btnl10	UTSW	11	58,814,755 (GRCm39)	small insertion	probably benign
Z1187:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1187:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1187:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1188:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1188:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1188:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1189:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1189:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1189:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1190:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1190:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1190:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1191:Btnl10	UTSW	11	58,814,755 (GRCm39)	small insertion	probably benign
Z1191:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1191:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1191:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1192:Btnl10	UTSW	11	58,814,754 (GRCm39)	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58,814,753 (GRCm39)	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58,810,138 (GRCm39)	missense	probably benign
Z1192:Btnl10	UTSW	11	58,817,650 (GRCm39)	missense	unknown
Z1192:Btnl10	UTSW	11	58,814,757 (GRCm39)	small insertion	probably benign

Posted On

2014-05-07