Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Btnl10'

210080

Institutional Source

Beutler Lab

Gene Symbol

Btnl10

Ensembl Gene

ENSMUSG00000020490

Gene Name

butyrophilin-like 10

Synonyms

Butr1, BUTR-1

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58917908-58927158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58920541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 230 (P230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104446 (fasta)

Gene Model

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

AlphaFold

Q9JK39

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020792
AA Change: P230Q

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020792
Gene: ENSMUSG00000020490
AA Change: P230Q

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

possibly damaging
Transcript: ENSMUST00000069941
AA Change: P230Q

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
AA Change: P230Q

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

possibly damaging
Transcript: ENSMUST00000108818
AA Change: P230Q

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104446
Gene: ENSMUSG00000020490
AA Change: P230Q

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

possibly damaging
Transcript: ENSMUST00000142499
AA Change: P230Q

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
AA Change: P230Q

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,226,575 (GRCm38)	D292E	probably damaging	Het
4931406P16Rik	T	A	7: 34,258,036 (GRCm38)	I59L	probably benign	Het
Abca8b	C	A	11: 109,957,098 (GRCm38)	L852F	possibly damaging	Het
Abcc6	T	C	7: 46,020,134 (GRCm38)		probably null	Het
Alg11	T	G	8: 22,065,568 (GRCm38)	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624 (GRCm38)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844 (GRCm38)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763 (GRCm38)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259 (GRCm38)	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148 (GRCm38)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090 (GRCm38)		probably null	Het
C3	A	G	17: 57,209,489 (GRCm38)	Y1348H	probably damaging	Het
Cebpz	A	T	17: 78,934,907 (GRCm38)	Y439*	probably null	Het
Cic	C	A	7: 25,286,840 (GRCm38)	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749 (GRCm38)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699 (GRCm38)	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494 (GRCm38)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369 (GRCm38)	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558 (GRCm38)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562 (GRCm38)	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629 (GRCm38)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455 (GRCm38)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817 (GRCm38)	G461V	possibly damaging	Het
Epg5	T	A	18: 77,959,032 (GRCm38)	D555E	probably benign	Het
Fes	T	C	7: 80,386,861 (GRCm38)	R113G	probably damaging	Het
Gm10684	A	G	9: 45,110,213 (GRCm38)		probably benign	Het
Gm12185	T	C	11: 48,915,404 (GRCm38)	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476 (GRCm38)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837 (GRCm38)	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556 (GRCm38)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684 (GRCm38)	Y216*	probably null	Het
Hephl1	A	C	9: 15,074,124 (GRCm38)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,411,910 (GRCm38)		probably null	Het
Hs3st6	A	G	17: 24,758,136 (GRCm38)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511 (GRCm38)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144 (GRCm38)	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408 (GRCm38)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841 (GRCm38)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834 (GRCm38)	I58F	probably benign	Het
Mga	T	A	2: 119,926,594 (GRCm38)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222 (GRCm38)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,081,023 (GRCm38)	D320Y	probably damaging	Het
Olfr1220	G	A	2: 89,097,544 (GRCm38)	P128S	probably damaging	Het
Olfr1395	A	C	11: 49,148,274 (GRCm38)	N6H	possibly damaging	Het
Olfr458	C	T	6: 42,460,426 (GRCm38)	V198M	probably benign	Het
Olfr60	T	C	7: 140,345,465 (GRCm38)	I175V	probably benign	Het
Olfr74	A	T	2: 87,974,059 (GRCm38)	V202D	possibly damaging	Het
Olfr740	T	A	14: 50,453,838 (GRCm38)	M262K	probably damaging	Het
Pabpc4	G	T	4: 123,289,068 (GRCm38)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,962 (GRCm38)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191 (GRCm38)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685 (GRCm38)	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148 (GRCm38)	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720 (GRCm38)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277 (GRCm38)	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990 (GRCm38)	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904 (GRCm38)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308 (GRCm38)	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497 (GRCm38)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447 (GRCm38)		probably null	Het
Slit2	A	G	5: 48,281,988 (GRCm38)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm38)	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199 (GRCm38)		probably benign	Het
Ssu2	A	T	6: 112,384,427 (GRCm38)	L23M	probably benign	Het
St5	G	A	7: 109,525,326 (GRCm38)	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279 (GRCm38)		probably null	Het
Tekt1	T	C	11: 72,351,935 (GRCm38)	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692 (GRCm38)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109 (GRCm38)	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107 (GRCm38)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207 (GRCm38)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,831,559 (GRCm38)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,885,545 (GRCm38)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041 (GRCm38)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052 (GRCm38)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442 (GRCm38)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570 (GRCm38)	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230 (GRCm38)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220 (GRCm38)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898 (GRCm38)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548 (GRCm38)	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155 (GRCm38)	P191L	probably damaging	Het

Other mutations in Btnl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Btnl10	APN	11	58,919,315 (GRCm38)	missense	probably damaging	0.98
IGL03368:Btnl10	APN	11	58,919,386 (GRCm38)	missense	possibly damaging	0.61
FR4304:Btnl10	UTSW	11	58,923,930 (GRCm38)	small insertion	probably benign
FR4449:Btnl10	UTSW	11	58,923,928 (GRCm38)	small insertion	probably benign
FR4589:Btnl10	UTSW	11	58,923,929 (GRCm38)	small insertion	probably benign
FR4737:Btnl10	UTSW	11	58,923,931 (GRCm38)	small insertion	probably benign
FR4976:Btnl10	UTSW	11	58,923,929 (GRCm38)	small insertion	probably benign
R0420:Btnl10	UTSW	11	58,923,451 (GRCm38)	missense	probably damaging	1.00
R1875:Btnl10	UTSW	11	58,923,760 (GRCm38)	missense	probably damaging	0.97
R3176:Btnl10	UTSW	11	58,922,390 (GRCm38)	missense	probably benign	0.00
R3177:Btnl10	UTSW	11	58,922,390 (GRCm38)	missense	probably benign	0.00
R3276:Btnl10	UTSW	11	58,922,390 (GRCm38)	missense	probably benign	0.00
R3277:Btnl10	UTSW	11	58,922,390 (GRCm38)	missense	probably benign	0.00
R4600:Btnl10	UTSW	11	58,923,600 (GRCm38)	missense	probably benign	0.01
R4611:Btnl10	UTSW	11	58,920,357 (GRCm38)	missense	probably damaging	1.00
R5447:Btnl10	UTSW	11	58,922,318 (GRCm38)	missense	probably benign	0.13
R5484:Btnl10	UTSW	11	58,923,825 (GRCm38)	missense	probably damaging	0.98
R5787:Btnl10	UTSW	11	58,920,343 (GRCm38)	missense	probably damaging	1.00
R5824:Btnl10	UTSW	11	58,923,440 (GRCm38)	missense	probably benign	0.05
R5859:Btnl10	UTSW	11	58,922,312 (GRCm38)	missense	probably benign	0.10
R6109:Btnl10	UTSW	11	58,920,304 (GRCm38)	missense	probably damaging	0.98
R6123:Btnl10	UTSW	11	58,920,304 (GRCm38)	missense	probably damaging	0.98
R6318:Btnl10	UTSW	11	58,926,865 (GRCm38)	utr 3 prime	probably benign
R7064:Btnl10	UTSW	11	58,919,308 (GRCm38)	missense	possibly damaging	0.74
R7083:Btnl10	UTSW	11	58,919,137 (GRCm38)	missense	probably damaging	1.00
R7152:Btnl10	UTSW	11	58,922,397 (GRCm38)	missense	probably benign
R7393:Btnl10	UTSW	11	58,923,706 (GRCm38)	missense	probably damaging	1.00
R7507:Btnl10	UTSW	11	58,920,558 (GRCm38)	missense	probably benign	0.05
R7893:Btnl10	UTSW	11	58,923,809 (GRCm38)	missense	probably benign	0.01
R8485:Btnl10	UTSW	11	58,920,316 (GRCm38)	missense	possibly damaging	0.92
R8529:Btnl10	UTSW	11	58,922,412 (GRCm38)	missense	probably benign	0.00
R8909:Btnl10	UTSW	11	58,922,372 (GRCm38)	missense	probably benign	0.00
R9205:Btnl10	UTSW	11	58,920,519 (GRCm38)	missense	probably damaging	1.00
R9564:Btnl10	UTSW	11	58,922,363 (GRCm38)	missense	probably benign	0.13
R9565:Btnl10	UTSW	11	58,922,363 (GRCm38)	missense	probably benign	0.13
R9675:Btnl10	UTSW	11	58,923,616 (GRCm38)	missense	probably damaging	1.00
RF018:Btnl10	UTSW	11	58,923,926 (GRCm38)	small insertion	probably benign
RF043:Btnl10	UTSW	11	58,923,926 (GRCm38)	small insertion	probably benign
X0064:Btnl10	UTSW	11	58,923,610 (GRCm38)	missense	probably damaging	1.00
Z1186:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1186:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1186:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1187:Btnl10	UTSW	11	58,923,929 (GRCm38)	small insertion	probably benign
Z1187:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1187:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1187:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1188:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1188:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1188:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1189:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1189:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1189:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1190:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1190:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1190:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1191:Btnl10	UTSW	11	58,923,929 (GRCm38)	small insertion	probably benign
Z1191:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1191:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1191:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1192:Btnl10	UTSW	11	58,923,928 (GRCm38)	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58,923,927 (GRCm38)	small insertion	probably benign
Z1192:Btnl10	UTSW	11	58,919,312 (GRCm38)	missense	probably benign
Z1192:Btnl10	UTSW	11	58,926,824 (GRCm38)	missense	unknown
Z1192:Btnl10	UTSW	11	58,923,931 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGAATCCGTGTGACTGAC -3'
(R):5'- TTGTCTTGGAAACCAACATCCC -3'

Sequencing Primer
(F):5'- ACCTCAGCAGGCTGGTAC -3'
(R):5'- CTACGACCCTCTTGGCCAG -3'

Posted On

2014-06-30