Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:Btnl1'

722382

Institutional Source

Beutler Lab

Gene Symbol

Btnl1

Ensembl Gene

ENSMUSG00000062638

Gene Name

butyrophilin-like 1

Synonyms

Btnl3, LOC240074, LOC240074, NG10

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34377132-34385776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34384361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 332 (D332G)

Ref Sequence

ENSEMBL: ENSMUSP00000079140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080254]

AlphaFold

Q7TST0

Predicted Effect

probably benign
Transcript: ENSMUST00000080254
AA Change: D332G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: D332G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	48	129	1.28e-10	SMART
Blast:IG_like	153	223	1e-26	BLAST
transmembrane domain	249	271	N/A	INTRINSIC
Pfam:SPRY	389	506	1.8e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	G	T	18: 24,475,606 (GRCm38)	A128S	probably benign	Het
4930539E08Rik	A	T	17: 28,909,408 (GRCm38)	I177K	probably benign	Het
AA792892	A	T	5: 94,383,946 (GRCm38)	R230*	probably null	Het
Abca14	T	C	7: 120,211,545 (GRCm38)	Y116H	probably benign	Het
Aipl1	C	T	11: 72,037,427 (GRCm38)	G11D	probably damaging	Het
Ankar	C	A	1: 72,681,908 (GRCm38)	V464L	probably benign	Het
Arap2	A	T	5: 62,611,717 (GRCm38)	I1526N	probably damaging	Het
Atad5	T	A	11: 80,114,170 (GRCm38)	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,624,214 (GRCm38)	T243A	probably benign	Het
Baz2b	T	C	2: 59,978,687 (GRCm38)	T73A	probably benign	Het
Brms1l	A	G	12: 55,860,091 (GRCm38)	S148G	probably damaging	Het
Card9	T	A	2: 26,352,332 (GRCm38)	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,463,273 (GRCm38)	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,311,116 (GRCm38)	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964 (GRCm38)	E487G	unknown	Het
Col22a1	T	C	15: 71,965,746 (GRCm38)	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,090,458 (GRCm38)	V180A		Het
Dmxl2	A	G	9: 54,416,380 (GRCm38)	V1066A	unknown	Het
Dnah9	C	T	11: 65,976,521 (GRCm38)	V2744M	probably benign	Het
Fam83e	G	T	7: 45,727,015 (GRCm38)	R384L	possibly damaging	Het
Fbxo42	T	A	4: 141,180,432 (GRCm38)	Y134*	probably null	Het
Fmn1	C	T	2: 113,364,125 (GRCm38)	P57S	unknown	Het
Gm6309	T	C	5: 146,168,890 (GRCm38)	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,330,552 (GRCm38)	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,825,057 (GRCm38)	I422F	probably damaging	Het
Itfg1	A	G	8: 85,776,169 (GRCm38)	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 189,256,694 (GRCm38)		probably null	Het
Kif14	T	C	1: 136,471,400 (GRCm38)	V433A	probably benign	Het
Kif3a	T	C	11: 53,584,404 (GRCm38)	F363S	probably damaging	Het
Lman2l	T	C	1: 36,428,409 (GRCm38)	D186G	probably damaging	Het
Lmntd2	T	C	7: 141,211,077 (GRCm38)	T448A	probably benign	Het
Magi2	C	T	5: 20,609,284 (GRCm38)	A898V	probably damaging	Het
Mri1	A	G	8: 84,256,300 (GRCm38)	V164A	probably damaging	Het
Myb	C	T	10: 21,154,713 (GRCm38)	D62N	probably benign	Het
Nxpe2	G	A	9: 48,326,332 (GRCm38)	R208*	probably null	Het
Olfr3	C	A	2: 36,812,555 (GRCm38)	C179F	probably damaging	Het
Olfr945	A	G	9: 39,258,441 (GRCm38)	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,022,073 (GRCm38)	A615V	probably benign	Het
Pou4f3	C	G	18: 42,395,498 (GRCm38)	P169A	probably benign	Het
Prss36	T	C	7: 127,934,501 (GRCm38)	I556V	probably benign	Het
Psg23	A	T	7: 18,612,142 (GRCm38)	D209E	probably benign	Het
Ptpn13	C	A	5: 103,528,809 (GRCm38)	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,203 (GRCm38)	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,831,063 (GRCm38)	L143M	probably damaging	Het
Shroom1	A	G	11: 53,466,785 (GRCm38)	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,196,300 (GRCm38)	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,316,356 (GRCm38)	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,729,459 (GRCm38)		probably null	Het
Tm9sf4	T	C	2: 153,195,374 (GRCm38)	F385S	probably benign	Het
Trpm4	A	T	7: 45,305,008 (GRCm38)	L1133*	probably null	Het
Trpm5	A	G	7: 143,079,394 (GRCm38)		probably null	Het
Ube4b	A	G	4: 149,383,774 (GRCm38)	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,080,925 (GRCm38)	T420A	probably benign	Het
Vipr1	G	A	9: 121,642,927 (GRCm38)		probably null	Het
Zc3h6	T	A	2: 129,016,182 (GRCm38)	I711K		Het
Zer1	T	C	2: 30,101,038 (GRCm38)	Y726C	probably damaging	Het

Other mutations in Btnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Btnl1	APN	17	34,381,117 (GRCm38)	missense	probably damaging	1.00
IGL01743:Btnl1	APN	17	34,385,685 (GRCm38)	missense	probably damaging	1.00
IGL02194:Btnl1	APN	17	34,379,535 (GRCm38)	missense	possibly damaging	0.90
IGL02329:Btnl1	APN	17	34,382,265 (GRCm38)	missense	possibly damaging	0.85
IGL03275:Btnl1	APN	17	34,385,512 (GRCm38)	missense	probably damaging	0.99
3-1:Btnl1	UTSW	17	34,381,056 (GRCm38)	missense	probably damaging	1.00
R0021:Btnl1	UTSW	17	34,379,494 (GRCm38)	missense	probably benign	0.01
R0021:Btnl1	UTSW	17	34,379,494 (GRCm38)	missense	probably benign	0.01
R0371:Btnl1	UTSW	17	34,381,057 (GRCm38)	missense	probably damaging	0.99
R1689:Btnl1	UTSW	17	34,381,208 (GRCm38)	nonsense	probably null
R1982:Btnl1	UTSW	17	34,379,751 (GRCm38)	missense	possibly damaging	0.81
R2109:Btnl1	UTSW	17	34,379,604 (GRCm38)	missense	probably damaging	1.00
R2134:Btnl1	UTSW	17	34,385,634 (GRCm38)	missense	possibly damaging	0.48
R2760:Btnl1	UTSW	17	34,381,038 (GRCm38)	missense	probably damaging	1.00
R4084:Btnl1	UTSW	17	34,381,159 (GRCm38)	missense	possibly damaging	0.91
R4586:Btnl1	UTSW	17	34,382,462 (GRCm38)	missense	probably damaging	1.00
R4611:Btnl1	UTSW	17	34,379,725 (GRCm38)	missense	probably damaging	0.99
R4625:Btnl1	UTSW	17	34,379,751 (GRCm38)	missense	probably null	0.99
R5579:Btnl1	UTSW	17	34,381,552 (GRCm38)	critical splice donor site	probably null
R5811:Btnl1	UTSW	17	34,385,529 (GRCm38)	missense	probably damaging	1.00
R6380:Btnl1	UTSW	17	34,379,494 (GRCm38)	missense	probably benign	0.01
R6602:Btnl1	UTSW	17	34,385,748 (GRCm38)	missense	probably damaging	0.99
R6633:Btnl1	UTSW	17	34,385,331 (GRCm38)	missense	possibly damaging	0.86
R8134:Btnl1	UTSW	17	34,385,673 (GRCm38)	missense	possibly damaging	0.86
R8136:Btnl1	UTSW	17	34,380,040 (GRCm38)	splice site	probably null
R8840:Btnl1	UTSW	17	34,385,603 (GRCm38)	missense	probably benign	0.17
R9120:Btnl1	UTSW	17	34,379,707 (GRCm38)	missense	possibly damaging	0.85
R9515:Btnl1	UTSW	17	34,381,144 (GRCm38)	missense	probably benign	0.00
R9528:Btnl1	UTSW	17	34,384,378 (GRCm38)	missense	possibly damaging	0.91
RF041:Btnl1	UTSW	17	34,381,368 (GRCm38)	missense	probably benign	0.04
X0026:Btnl1	UTSW	17	34,377,932 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCTAGGGAGCAGTTCCTGAG -3'
(R):5'- GAACAGTGTGGCCAAGCTTG -3'

Sequencing Primer
(F):5'- GCAGTTCCTGAGAGCACAG -3'
(R):5'- CAGCTTGAACAAGTGTATGCC -3'

Posted On

2022-08-09